麻豆传媒

Volker Straub is The Harold Macmillan Professor of Medicine and Professor of Neuromuscular Genetics at the Institute of Translational and Clinical Research at 麻豆传媒, United Kingdom. He is the Director of the University’s John Walton Muscular Dystrophy Research Centre and the Centre of Research Excellence for Rare Disease (RD NUCoRE). He holds honorary clinical appointments with the 麻豆传媒 upon Tyne Hospitals NHS Foundation Trust and the North Tees and Hartlepool NHS Foundation Trust.

Volker was trained as a pediatric neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy (DMD) and worked as a postdoctoral research fellow in Dr Kevin Campbell’s laboratory at the Howard Hughes Medical Institute at the University of Iowa in Iowa City, Iowa, USA, on limb girdle muscular dystrophies (LGMD).

Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research also involves the application of magnetic resonance imaging, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders.

One of Volker’s main interests in muscle diseases is around translational research. He was the co-founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD (), which he coordinated together with Kate Bushby. Volker is he academic lead of the TACT secretariat. TACT offers guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases.

Volker is the CI/ PI for a number of natural history and interventional trials in DMD, LGMD, Pompe disease, spinal muscular atrophy and other NMDs. Volker, together with Ana Topf, led the MYO-SEQ study, a pan European next generation sequencing programme targeted at patients with limb girdle weakness of unknown origin. Volker chaired the European MYO-MRI COST Action (BM1304) to develop applications of MR imaging and spectroscopy techniques in neuromuscular disease and represents the UK on the COST Scientific Committee. He is the co-director of the MRC International Centre for Genomic Medicine in Neuromuscular Diseases and an Executive Board member of the World Muscle Society. He is an author on >500 peer-reviewed publications.

SCOPUS:

Research Interests

Neuromuscular research

The majority of neuromuscular diseases are rare genetic conditions. They either affect the anterior horn cell, the peripheral nerve, the neuromuscular junction or the muscle cell itself. The neuromuscular research group at the Institute of Human Genetics has both a clinical and a research interest in neuromuscular diseases. In our specialized clinics we follow more than a thousand local patients with a broad spectrum of neuromuscular conditions most of which show progressive muscle weakness and wasting. Even for experts in the field it is becoming increasingly difficult to distinguish and accurately diagnose all forms of neuromuscular diseases on clinical grounds alone, as there is currently a still growing number of about 200 different disease entities. This urges a collaborative effort among clinicians and scientists who work on diagnosis, pathogenesis, and on therapeutic approaches in neuromuscular diseases.

A main interest of the neuromuscular team is around translational research. Together with Professor Bushby, Professor Straub was coordinating a network of excellence for translational research in rare inherited neuromuscular diseases funded by the European Commission. The ultimate goal of the network, called TREAT-NMD () is to accelerate the development of curative treatments for patients with neuromuscular diseases. 

Professor Straub has a long-standing interest in the pathogenesis of muscular dystrophies. He is the Director of the John Walton Muscular Dystrophy Research Centre. Mechanisms of muscle fibre damage and repair are studied in zebrafish and mouse models for the diseases. The application of contrast enhanced MRI and quantitative MRI gives an insight into the dynamic processes underlying muscle fibre de- and regeneration. Professor Straub is the Deputy Dean for Translational and Clinical Research, the Director for the University's Centre of Research Excellence for Rare Disease, and an Executive Board member of the World Muscle Society.

Our work is supported by the EU, the Muscular Dystrophy Campaign, the Association Francaise contre les Myopathies, the NIHR, and LifeArc.

• Articles

  • Costa-Comellas L, Monforte M, Sanchez-Montanez A, Romero-Duque P, Pegoraro E, Diaz-Manera J, Vlodavets D, Maggi L, Moscatelli M, D'Amico A, Olive M, Alonso-Perez J, Comi G, Escudero-Fernandez JM, Urcuyo GS, Pichiecchio A, Berardinelli A, Claeys KG, Bruno C, Panicucci C, Bortolani S, Torchia E, Ricci E, Monges S, Bevilacqua JA, Diaz-Jara J, Walter MC, Thiele S, Lokken N, Vissing J, Quijano-Roy S, Carlier RY, Voermans NC, Marini-Bettolo C, Guglieri M, Straub V, Leonardis L, Munell F, Gomez-Andres D, Tasca G. . Annals of Clinical and Translational Neurology 2026, epub ahead of print.
  • Miranda R, Weerkamp PMM, Kolesnik A, Geagan C, Chieffo D, Suarez-Bagnasco M, Skuse D, Vroom E, Niks EH, Vissing J, Desguerre I, Straub V, Muntoni F, Mercuri E, Hendriksen JGM, Angeard N, Athanasiou D, Bakker S-A, Boddaert N, Drummond E, Durrlemann C, Fortunato F, Garcia-Moreno LM, Gervasi M, Govaart R, Guliaeva I, Hankinson C, Hemar L, Hendel R, Kan H, Kerkela L, Landon G, Malinova M, Mandy W, Moriconi F, Pellizzari M, Poncet S, Sakellariou E, Siminiuc S, Slipsager AW, Smythe L, Spitali P, Stemmerik MPG, Vogel A, Wolstencroft J, Zanetti C. . Developmental Medicine and Child Neurology 2026, epub ahead of print.
  • Riguzzi P, Grover E, Schiava M, James MK, Diaz-Manera J, Tasca G, Bourke J, Borland H, Moat D, Elseed M, Michell-Sodhi J, Bolano-Diaz C, Wong K, Barreto Haagsma A, Robinson E, Reeves T, Waldock P, Harris E, McCallum M, Gadaleta G, Pegoraro E, Bello L, Messer B, Muni-Lofra R, Straub V, Marini Bettolo C, Guglieri M. . Journal of Neurology, Neurosurgery, and Psychiatry 2026, 97(5), 456-463.
  • Henning F, Naidu K, Thomas P, Schoeman M, Zaharie D, Patel K, Dominik N, Efthymiou S, Wilson LA, Hanna MG, Straub V, Sagath L, Lehtokari V-L. . Neuromuscular Disorders 2026, 62, 106415.
  • Birkbeck MG, Schofield IS, Wilson I, Bashford J, Hall J, Marini-Bettolo C, Straub V, Whittaker RG, Blamire AM. . Neuromuscular Disorders 2026, 60, 106337.
  • Luce L, Kocak GS, Verdu-Diaz J, Alonso-Perez J, Claeys KG, Stojkovic T, Fernandez-Eulate G, Laforet P, Miladi N, Di Pace F, Moreno CAM, Zanoteli E, Weihl CC, Straub V, Topf A, Diaz-Manera J, D'Amico A, Lopez de Munain A, Alonso-Jimenez A, Camacho-Salas A, Gangfuss A, Nascimento A, Sarkozy A, van der Kooi AJ, Fraga-Bau A, Melegh B, Schoser B, Udd B, Koritnik B, Ortez C, Marini Bettolo C, Panicucci C, Weiss C, Bruno C, Semplicini C, Dominguez-Gonzalez C, Garrido C, Gomez-Andres D, Malfatti E, Pegoraro E, De Vos E, Munell F, Dekomien G, Comi GP, Tasca G, Richard I, De Bleecker JL, Haberlova J, Storgaard JH, Palmio J, Vissing J, de Leon-Hernandez JC, Hadzsiev K, Costa-Comellas L, Leonardis L, ten Dam L, Gonzalez-Quereda L, Bello L, Politano L, Santos M, de Visser M, Rohlenova M, Garibaldi M, Guglieri M, Deconinck N, Lokken N, Abdel-Mannan O, Gallano P, Fernandez-Torron R, Schara-Schmidt U, Nigro V, Zangaro V. . Annals of Clinical and Translational Neurology 2026, epub ahead of print.
  • Mayhew AG, Signorovitch J, Johnson M, Frean M, Ward SJ, Posner N, Merla V, Mahn Matthias, Stimpson G, Guglieri M, Straub S, Muni-Lofra R, Manzur A, Baranello G, Muntoni F. . Journal of Neuromuscular Diseases 2025, 12(3), 435-440.
  • Neal M, Bolano-Diaz C, Richardson M, Michell-Sodhi J, Muni-Lofra R, James M, Hollingsworth K, Hilsden H, Wilson I, Blamire A, Straub V, Thelwall P, Diaz-Manera J. . Journal of Cachexia, Sarcopenia and Muscle 2025, 16(1), e13709.
  • Vandenborne K, Walter GA, Straub V, Willcocks RJ, Forbes SC, Mercuri EM, Muntoni F, Ding K, Ennamuri S, Reid C, Murphy AP, Manfrini M, Mendell JR, Elkins JS, Rodino-Klapac LR. . JAMA Neurology 2025, 82(7), 734-744.
  • Muntoni F, Signorovitch J, Goemans N, Done N, Sajeev G, Li J, Akbarnejad H, Sharma A, Ward SJ, Niks EH, Servais L, Mercuri E, Guglieri M, Straub V, de Groot I, Ridout D, Deconinck N, Tulinius M, Flanigan K, Henricson E, de Resende MBD, Vita GL, Schara U, Kirschner J, Topaloglu H, Monges S, Cances C, Domingos J, Ricotti V, Selby V, Wolfe A, Abbott L, Milev E, Panagiotopoulou E, Iodice M, Ash M, Servais L, Voit T, Decostre V, Gilabert S, Hogrel J-Y, Murphy A, Mayhew A, Van der Holst M, Krom YD, van Heur-Neuman MJ, de Groot IJ, Jansen M, Pelsma M, Bobbert M, Verschuuren JJGM, Manzur A, Manzur A, Robb S, Quinlivan R, Sarkozy A, Munot P, Baranello G, Scoto M, Main M, Patel H, Samsuddin S, Gupta VA, Bushby K, Bertolli C, Muni-Lofra R, James M, Moat D, Sodhi J, Roper H, Parasuraman D, McMurchie H, Rabb R, Pysden K, Pallant L, Peachey G, Madhu R, Shillington A, Jungbluth H, Sheehan J, Spahr R, Bateman E, Cammiss C, Groves L, Emery N, Baxter P, Goulborne N, Senior M, Scott E, Hartley L, Parsons B, Mason F, Jenkins L, Toms B, Frimpong-Ansah C, Jarvis H, Dalgleish J, Keddie A, Di Marco M, Dunne J, Miah A, Selley A, Geary M, Palmer J, Greenfield K, MacAuley S, Robbins H, Iqbal M, Ward C, Taylor J, O'Hara A, Tewnion J, Chandratre S, Ramdas S, White M, Ramjattan H, Yirrel J, Van den Hauwe M, McDonald C. . PLoS ONE 2025, 20(6), e0325736.
  • Tedesco B, Peric S, Kocak GS, Tan J, Duong H, Topf A, Rakocevic-Stojanovic V, Milenkovic S, Parkhurst Y, Gibbs L, Martin-Rios A, Lambiase PD, Guttmann OP, Marini-Bettolo C, Harris E, Harms MB, Ivanovic V, Marchesi V, Milone M, Timmerman V, Straub V, Poletti A, Kimonis V. . European Journal of Human Genetics 2025, 33, 1015-1024.
  • Verdu-Diaz J, Bolano-Diaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak G, Mucida-Alvim D, Smith I, Vissing J, Poulsen N, Luo S, Dominguez-Gonzalez C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua J, Diaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-Perez J, Olive M, Niks E, Kan H, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, LeBars E, Childs A, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, DiPace F, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jimenez A, Carlier R, Okhovat A, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, Diaz-Manera J, Myo-Guide Consortium. . Journal of Cachexia, Sarcopenia and Muscle 2025, 16(3), e13815.
  • Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Dominguez-Gonzalez C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olive M, Diaz-Manera J. . Neurology: Genetics 2025, 11(4), e200265.
  • Richardson M, Kinet V, Wong K, Elseed M, Moat D, Harris E, Michel-Sodhi J, Bolano-Diaz C, McCallum M, Robinson E, Schiava M, Grover E, Salman D, Guglieri M, Tasca G, Ghimenton E, Diaz-Manera J, Mayhew A, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R. . Neuromuscular Disorders 2025, 52, 105421.
  • Watson-Fargie T, Coomber A, Edwards R, Barr M, Brennan K, Fletcher E, Miller-Hodges E, O'Sullivan D, Stewart K, Hopton S, He L, Alston CL, Taylor RW, Topf A, Straub V, Stewart W, Longman C, Farrugia ME. . Neuromuscular Disorders 2025, 49, 105343.
  • White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, The Jain COS Consortium, Straub V, Bernatchez P. . Journal of Cachexia, Sarcopenia and Muscle 2025, 16(4), e70042.
  • Schiava M, Dang UJ, Wood C, Wong SC, Ward LM, Muni Lofra R, Mayhew A, Martens WB, Gregory S, Griggs RC, Guglieri M, Manzur A, Rachel A, Gangfuss A, Childs AM, Kumar A, Herr BE, Darras BT, Speed C, Campbell C, McDonald CM, Wilichowski E, McColl E, Pegoraro E, Ciafaloni E, Henricson EK, Ricci F, Vita GL, Baranello G, Vita G, Roper H, McMillan HJ, Horrocks IA, Hughes I, Howard JF, Kirschner J, Han JJ, Mah JK, Statland JM, Wilkinson J, Bushby K, O'Reardon K, Flanigan KM, Hart KA, Morrison L, Maggi L, Bello L, von der Hagen M, Brown MW, Thangarajh M, Wicklund M, McDermott MP, Eagle M, Krzesniak-Swinarska M, Kuntz NL, Joyce N, Shieh PB, Kang PB, Tawil R, Barohn RJ, Finkel RS, Butterfield RJ, Spinty S, Chang T, Mongini TE, Willis T, Schara-Schmidt U, Straub V, Burnette WB, King WM, Alhaswani Z. . Developmental Medicine and Child Neurology 2026, 68(3), 429-440.
  • Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, Denomme-Pichon A-S, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg E-J, Kellner M, Kleefstra T, Lacombe D, Lochmuller H, Lopez-Martin E, Macaya A, Marce-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasova Schwabova J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Sablauskas K, Savarese M, Schols L, Schutz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnalkova E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B, de Voer RM, de Sainte Agathe J-M, de Sainte Agathe J-M, Vissers LELM, Brookes AJ, Evangelista T, Gilissen C, Graessner H, Hoogerbrugge N, Ossowski S, Riess O, Schule R, Synofzik M, Verloes A, Matalonga L, Brunner HG, Lohmann K, Topf A, Vissers LELM, Beltran S, Hoischen A. . Nature Medicine 2025, 31, 478-489.
  • Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. . Annals of Clinical and Translational Neurology 2025, 11(9), 2268-2276.
  • Chesshyre M, Ridout D, Stimpson G, Ricotti V, De Lucia S, Niks EH, Straub V, Servais L, Hogrel J-Y, Baranello G, Manzur A, UK NorthStar Clinical Network, Muntoni F, on behalf of the iMDEX Network. . Developmental Medicine and Child Neurology 2025, 67(10), 1280-1289.
  • Fernandez-Eulate G, Gitiaux C, Thiele S, Jungbluth H, Potulska-Chromik A, Marini-Bettolo C, Davion JB, Moris G, Gallardo E, Olive M, de Fuenmayor-Fernandez de la Hoz CP, Audic F, Isapof A, Walter MC, Angelini C, Bertini E, Schara-Schmidt U, Claeys KG, Dohrn MF, Dembele M, Fer F, Brochier G, Evangelista T, Kostera-Pruszczyk A, Attarian S, Straub V, Dominguez-Gonzalez C, Vissing J, Richard P, Metay C, Khraiche D, Wahbi K, Stojkovic T. . Brain 2025, 148(12), 4435-4447.
  • Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Peric S, Fahmy N, Udd B, Horakova M, Lusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmuller H, Horvath R, Bonnemann CG, Donkervoort S, Haliloglu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Topf A, Straub V, Pajusalu S, Ounap K, Tiao G, Rehm HL, O'Donnell-Luria A. . Genetics in Medicine 2025, 27(4), 101336.
  • Elseed M, Sampson JN, Polvikoski T, Henderson M, Parkhurst Y, Bertoli M, Schiava M, Lofra RM, Moat D, Wong K, Michell-Sodhi J, Guglieri M, Straub V, Harris E, Marini-Bettolo C. . Neuromuscular Disorders 2025, 47, 105258.
  • McCarty RM, Saade D, Munot P, Laverty CG, Pinz H, Zou Y, McAnally M, Yun P, Tian C, Hu Y, Feng L, Phadke R, Ceulemans S, Magoulas P, Skalsky AJ, Friedman JR, Braddock SR, Neuhaus SB, Malicki DM, Bainbridge MN, Nahas S, Dimmock DP, Kingsmore SF, Lotze TE, Foley AR, Muntoni F, Straub V, Donkervoort S, Bonnemann CG. . Annals of Clinical and Translational Neurology 2025, 12(3), 602-614.
  • Iruzubieta P, Verdu-Diaz J, Topf A, Luce L, Claeys KG, De Ridder W, Gonzalez-Quereda L, de Fuenmayor-Fernandez de la Hoz CP, Poza JJ, Zulaica M, de Jonghe P, Duff J, Mroczek M, Martin-Jimenez P, Hernandez-Lain A, Dominguez-Gonzalez C, Baets J, Gallano P, Diaz-Manera J, Straub V, Lopez de Munain A, Fernandez-Torron R. . Journal of Neurology 2025, 272(2), 150.
  • Riguzzi P, Borland H, James MK, Bourke J, Bettolo CM, Lofra RM, Diaz-Manera J, Tasca G, Schiava M, ElSeed M, Harris E, Grover E, Geagan C, Diaz CB, Haagsma AB, Salman D, Reeves T, Kocak GS, Robinson E, Waldock P, McCallum M, Michell-Sodhi J, Moat D, Wong K, Topf A, Pegoraro E, Bello L, Straub V, Guglieri M. . Journal of Neurology 2025, 272(7), 448.
  • Schiava M, Bourke JP, Diaz-Manera J, Johnson A, Elseed MA, Tasca G, Kadhim K, Straub V, Bettolo CM, Guglieri M. . Neuromuscular Disorders 2025, 46, 105276.
  • Wong KSW, Sen A, Michell-Sodhi J, Moat D, McCallum M, Richardson M, Harris E, Mayhew AG, Guglieri M, Grover E, Diaz-Manera J, Robinson E, Elseed M, Mason J, Geagan C, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R. . Neurology: Clinical Practice 2025, 16(2), e200590.
  • Govaarts R, Doorenweerd N, Najac CF, Broek EM, Tamsma ME, Hollingsworth KG, Niks EH, Ronen I, Straub V, Kan HE. . NMR in Biomedicine 2024, 37(11), e5212.
  • Borland H, Moore U, Dressman HG, Human A, Mayhew AG, Hilsden H, Rufibach LE, Duong T, Maron E, DeWolf B, Rose K, Siener C, Thiele S, Praxedes NS-A, Canal A, Holsten S, Sakamoto C, Pedrosa-Hernandez I, Bello L, Alfano LN, Lowes LP, The Jain COS Consortium, James MK, Straub V. . Neuromuscular Disorders 2024, 43, 20-28.
  • Muntoni F, Signorovitch J, Sajeev G, Done N, Yao Z, Goemans N, McDonald C, Mercuri E, Niks EH, Wong B, Vandenborne K, Straub V, de Groot IJM, Tian C, Manzur A, Dieye I, Lane H, Ward SJ, Servais L, Deconinck N, Tulinius M, Flanigan K, Henricson E, Dutra de Resende MB, Vita GL, Schara U, Kirschner J, Topaloglu H, Monges S, Cances C, Domingos J, Ricotti V, Selby V, Wolfe A, Abbott L, Milev E, Panagiotopoulou E, Iodice M, Ash M, Voit T, Decostre V, Gilabert S, Hogrel J-Y, Murphy A, Mayhew A, Van der Holst M, Krom YD, van Heur-Neuman MJ, Jansen M, Pelsma M, Bobbert M, Verschuuren JJGM, Robb S, Quinlivan R, Sarkozy A, Munot P, Baranello G, Scoto M, Main M, Patel H, Samsuddin S, Gupta VA, Bushby K, Bertolli C, Muni-Lofra R, James M, Moat D, Sodhi J, Roper H, Parasuraman D, McMurchie H, Rabb R, Pysden K, Pallant L, Peachey G, Madhu R, Shillington A, Jungbluth H, Sheehan J, Spahr R, Bateman E, Cammiss C, Groves L, Emery N, Baxter P, Goulborne N, Senior M, Scott E, Hartley L, Parsons B, Mason F, Jenkins L, Toms B, Frimpong-Ansah C, Jarvis H, Dalgleish J, Keddie A, Di Marco M, Dunne J, Miah A, Selley A, Geary M, Palmer J, Greenfield K, MacAuley S, Robbins H, Iqbal M, Ward C, Taylor J, O'Hara A, Tewnion J, Chandratre S, Ramdas S, White M, Ramjattan H, Yirrel J, Arora H, Willcocks RJ, Lott DJ, Senesac CR, Triplett WT, Byrne BJ, Walte GA, Sweeney HL, Harrington AT, Tennekoon GI, Zilke KL, Finanger EL, Russman BS, Daniels MJ, Xu D, Finkel RS, Bettica P, Billeter M, Van den Hauwe M, Rybalsky I, Shellenbarger KC, McCormick AE, McGuire MN, Bonarrigo K, Fowler AE, Kiefer M, Bange J, Hu S, Chik F, Chen J, Shen P. . PLoS ONE 2024, 19(7), e0304984.
  • Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V. . Journal of Medical Genetics 2024, 61(10), 992-998.
  • Sen A, Hedley V, Degraeuwe E, Hirschfeld S, Cornet R, Walls R, Owen J, Robinson PN, Neilan EG, Liener T, Nisato G, Modi N, Woodworth S, Palmeri A, Gaentzsch R, Walsh M, Berkery T, Lee J, Persijn L, Baker K, An Haack K, Segovia Simon S, Jacobsen J, Reggiardo G, Kirwin M, Trueman J, Pansieri C, Bonifazi D, Nally S, Bonifazi F, Leary R, Straub V. . Data 2024, 9(4), 55.
  • Pinol-Jurado P, Verdu-Diaz J, Fernandez-Simon E, Dominguez-Gonzalez C, Hernandez-Lain A, Lawless C, Vincent A, Gonzalez-Chamorro A, Villalobos E, Monceau A, Laidler Z, Mehra P, Clark J, Filby A, McDonald D, Rushton P, Bowey A, Alonso Perez J, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Suarez-Calvet X, Diaz-Manera J. . Scientific Reports 2024, 14(1), 3365.
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  • Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, DeCostre V, Mendez JB, Praxedes NSA, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prugel J, Maro E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Neurology 2019, 92(5), e461-e474.
  • Jarmula A, Lusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Topf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ. . Scientific Reports 2019, 9(1), 11533.
  • Cox D, Henderson M, Straub V, Barresi R. . Neuromuscular Disorders 2019, 29(11), 874-880.
  • Wong SC, Straub V, Ward LM, Quinlivan R, On behalf of the 236th ENMC workshop participants. . Neuromuscular Disorders 2019, 29(3), 251-259.
  • Vissing J, Johnson K, Topf A, Nafissi S, Diaz-Manera J, French VM, Schindler RF, Sarathchandra P, Lokken N, Rinne S, Freund M, Decher N, Muller T, Duno M, Krag T, Brand T, Straub V. . Annals of Neurology 2019, 86(6), 832-843.
  • Porcari P, Hall MG, Clark CA, Greally E, Straub V, Blamire AM. . NMR in Biomedicine 2018, 31(3), e3881.
  • Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel J-Y, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(11), 1224-1226.
  • Blain AM, Greally E, McClorey G, Manzano R, Betts CA, Godfrey C, O'Donovan L, Coursindel T, Gait MJ, Wood MJ, MacGowan GA, Straub VW. . PLoS ONE 2018, 13(6), e0198897.
  • Díaz-Manera J, Fernandez-Torron R, Rossello JL, James M, Mayhew A, Smith FE, Moore U, Blamire A, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Gala RS, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero HJ, Foster S, Peduto A, Sawyer AM, Hilsden H, Lochmuller L, Grieben U, Spuler S, Rocha CT, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V. . Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(10), 1071-1081.
  • Tasca G, Monforte M, Diaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Lokken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlova J, Magnano G, Walter MC, Quijano-Roy S, Carlier R-Y, van Engelen BGM, Vissing J, Straub V, Bonnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. . Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(1), 72-77.
  • Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmuller H, Straub V, Bushby K, Barresi R, Muntoni F. . Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(7), 762-768.
  • Østergaard ST, Johnson K, Stojkovic T, Krag T, DeRidder W, DeJonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. . Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(5), 506-512.
  • Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, GrahamJr JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. . Neurology 2018, 91(6), e562-e570.
  • Catapano F, Domingos J, Perry M, Ricotti V, Phillips L, Servais L, Seferian A, Groot ID, Krom YD, Niks EH, Verschuuren JJGM, Straub V, Voit T, Morgan J, Muntoni F. . Epigenomics 2018, 10(7), 875-890.
  • Johnson K, Bertoli M, Phillips L, Topf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Lusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernandez-Torron R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. . Skeletal Muscle 2018, 8(1), 23.
  • Wood CL, Straub V. . Current opinion in neurology 2018, 31(5), 583-591.
  • Strang-Karlsson S, Johnson K, Topf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. . Neuromuscular Disorders 2018, 28(7), 614-618.
  • Gonzalez-Quereda L, Gallardo E, Topf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J. . Neuromuscular Disorders 2018, 28(8), 633-638.
  • Harris E, Marini-Bettolo C, Topf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmuller H, Bushby K, Straub V. . Neuromuscular Disorders 2018, 28(1), 48-53.
  • Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmuller H. . Journal of Neurology 2017, 264(5), 979-988.
  • Kohler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Ayme S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJS, DeMare LE, Devereau AD, De Vries BBA, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jahn JA, James R, Krause R, Laulederkind SJF, Lochmuller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MWM, Vulliamy T, Yu J, Von Ziegenweidt J, Zankl A, Zuchner S, Zemojtel T, Jacobsen JOB, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. . Nucleic Acids Research 2017, 45(D1), D865-D876.
  • Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM, The DDD Study, Wright CF. . Human Molecular Genetics 2017, 26(3), 519-526.
  • Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmuller H, Evangelista T. . Journal of Neurology 2017, 264(6), 1271-1280.
  • Burch PM, Pogoryelova O, Palandra J, Goldstein R, Bennett D, Fitz L, Guglieri M, Bettolo CM, Straub V, Evangelista T, Neubert H, Lochmuller H, Morris C. . Journal of Neurology 2017, 264(3), 541-553.
  • Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M. . Brain 2017, 140(1), 37-48.
  • Deciphering Developmental Disorders Study, Study authors include, Bourn D, Burn J, Fisher R, Goodship J, Hellens S, Henderson A, Montgomery T, Sneddon L, Splitt M, Straub V, Wright M, Yates L. . Nature 2017, 542, 433-438.
  • Molster CM, Lister K, Metternick-Jones S, Baynam G, Clarke AJ, Straub V, Dawkins HJS, Laing N. . Frontiers in Public Health 2017, 5, 25.
  • Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J. . American Journal of Human Genetics 2017, 100(3), 523-536.
  • Villard L, Nordmark-Andersson E, Crowley B, Straub V, Bertoli M. . Journal of Pediatric Orthopaedics 2017, 37(5 Supplement 1), S29-S30.
  • Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bonnemann CG, MacArthur DG. . Science Translational Medicine 2017, 9(386).
  • Johnson K, Topf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Peric S, Hahn A, Maddison P, Akay E, Bastian AE, Lusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. . Orphanet Journal of Rare Diseases 2017, 12, 173.
  • Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnusson O, Lek M, MacArthur D, Bushby K, Lochmuller H, Straub V. . Orphanet Journal of Rare Diseases 2017, 12(151), -.
  • Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs A-M, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. . Contemporary Clinical Trials 2017, 58, 34-39.
  • Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Topf A, Straub V. . Neuromuscular Disorders 2017, 28(1), 101.
  • Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. . Neuromuscular Disorders 2017, 27(9), 793-803.
  • Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Topf A, Bushby K, McArthur D, Lochmuller H, Ferlini A, Straub V, Barresi R. . Neuromuscular Disorders 2017, 27(9), 861-872.
  • Koeks Z, Bladen CL, Salgado D, Van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, Van Den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Diaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topalolu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Beroud C, Verschuuren JJ, Lochmuller H. . Journal of Neuromuscular Diseases 2017, 4(4), 293-306.
  • Harris E, Topf A, Vihola A, Evila A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmuller H, Bushby K, Udd B, Straub V. . Neuromuscular Disorders 2017, 27(11), 1009-1017.
  • Peric S, Glumac JN, Töpf A, Savic-Pavicevic D, Phillips L, Johnson K, Cassop-Thompson M, Xu L, Bertoli M, Lek M, MacArthur D, Brkusanin M, Milenkovic S, Rasic VM, Banko B, Maksimovic R, Lochmüller H, Stojanovic VR, Straub V. . European Journal of Human Genetics 2017, 25(5), 572-581.
  • Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Topf A, Straub V. . Neuromuscular Disorders 2017, 27(11), 1043-1046.
  • Van Ruiten HJA, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M. . European Journal of Paediatric Neurology 2016, 20(6), 904-909.
  • Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F, Robb S, Quinlivan R, Sarkozy A, Butler J, Bushby K, Straub V, Guglieri M, Eagle M, Roper H, McMurchie H, Childs A, Pysden K, Pallant L, Spinty S, Peachey G, Shillington A, Wraige E, Jungbluth H, Sheehan J, Spahr R, Hughes I, Bateman E, Cammiss C, Willis T, Groves L, Emery N, Baxter P, Senior M, Scott E, Hartley L, Parsons B, Majumdar A, Jenkins L, Toms B, Naismith K, Keddie A, Horrocks I, Di Marco M, Chow G, Miah A, De Goede C, Thomas N, Geary M, Palmer J, White C, Greenfield K, Wilson I. . Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(2), 149-155.
  • Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A. . Lancet Neurology 2016, 15(8), 882-890.
  • Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. . Journal of Neurology 2016, 263(5), 906-915.
  • Srinivasan R, Rawlings D, Wood CL, Cheetham T, Moreno ACJ, Mayhew A, Eagle M, Guglieri M, Straub V, Owen C, Bushby K, Sarkozy A. . Muscle & Nerve 2016, 54(1), 79-85.
  • Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. . Neurology 2016, 87(3), 295-298.
  • Willis TA, Wood CL, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V. . Clinical Genetics 2016, 90(2), 166-170.
  • Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D. . European Journal of Human Genetics 2016, 1–7.
  • Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmuller H, Straub V, Bushby K, Castrignano T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang XP, Hodge BA, Esser KA, Ferlini A. . Journal of Cell Science 2016, 129(8), 1671-1684.
  • Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V, Chinnery PF. . Neurology 2016, 87(10), 1031-1035.
  • Bello L, Punetha J, Gordish-Dressman H, Giri M, Hoffman EP, Bello L, Barp A, Vianello S, Pegoraro E, Flanigan KM, Weiss RB, Spitali P, Aartsma-Rus A, Straub V, Lochmuller H, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, McDonald CM, Dunn DM, Swoboda KJ, Gappmaier E, Howard MT, Sampson JB, Bromberg MB, Butterfield R, Kerr L, Pestronk A, Florence JM, Connolly A, Lopate G, Golumbek P, Schierbecker J, Malkus B, Renna R, Siener C, Finkel RS, Bonnemann CG, Medne L, Glanzman AM, Flickinger J, Mendell JR, King WM, Lowes L, Alfano L, Mathews KD, Stephan C, Laubenthal K, Baldwin K, Wong B, Morehart P, Meyer A, Day JW, Naughton CE, Margolis M, Cnaan A, Abresch RT, Henricson EK, Morgenroth LP, Duong T, Chidambaranathan VV, Biggar WD, McAdam LC, Mah J, Tulinius M, Leshner R, Rocha CT, Thangarajh M, Kornberg A, Ryan M, Nevo Y, Dubrovsky A, Clemens PR, Abdel-Hamid H, Connolly AM, Pestronk A, Teasley J, Bertorini TE, North K, Webster R, Kolski H, Kuntz N, Driscoll S, Carlo J, Gorni K, Lotze T, Day JW, Karachunski P, Bodensteiner JB. . American Journal of Human Genetics 2016, 99(5), 1163-1171.
  • Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M. . Brain 2016, 139(8), 2154-2163.
  • van den Bergen JC, Hiller M, Bohringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmuller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJGM, 't Hoen PAC, Spitali P. . Journal of Neurology, Neurosurgery & Psychiatry 2015, 86(10), 1060-1065.
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  • Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K. . Orphanet Journal of Rare Diseases 2015, 10, 49.
  • Wood CL, Cheetham TD, Guglieri M, Bushby K, Owen C, Johnstone H, Straub V. . Neuropediatrics 2015, 46(6), 371-376.
  • Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmuller H, Horvath R. . Neuromuscular Disorders 2015, 25(6), 516-521.
  • Palmio J, Jonson PH, Evila A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B. . Neuromuscular Disorders 2015, 25(11), 835-842.
  • Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmüller H, Morris C. . Journal of Neuromuscular Diseases 2015, 2(3), 241-255.
  • Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V. . Neuromuscular Disorders 2015, 25(1), 96-105.
  • Loughran T, Higgins DM, McCallum M, Coombs A, Straub V, Hollingsworth KG. . Radiology 2015, 275(2), 570-578.
  • Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. . Developmental Medicine & Child Neurology 2015, 58(5), 508-515.
  • Vila MC, Klimek MB, Novak JS, Rayavarapu S, Uaesoontrachoon K, Boehler JF, Fiorillo AA, Hogarth MW, Zhang A, Shaughnessy C, Gordish-Dressman H, Burki U, Straub V, Lu QL, Partridge TA, Brown KJ, Hathout Y, van den Anker J, Hoffman EP, Nagaraju K. . Skeletal Muscle 2015, 5(1), 44.
  • Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. . Neuromuscular Disorders 2015, 25(12), 937-944.
  • Burki U, Keane J, Blain A, O'Donovan L, Gait MJ, Laval SH, Straub V. . Nucleic Acid Therapeutics 2015, 25(5), 275-284.
  • Straub V, Veldhuizen O, Bertoli M, Eagle M, Campion G, Ferreira I, Braakman T, Labourkas A, Giannakopoulos S, Aygun H, Wojczewski S, Voit T, Carlier P, Moraux A, Servais L, Niks E, Verschuuren J, Spitali P, Aartsma-Rus A, SCOPE-DMD Consortium. . Human Gene Therapy Clinical Development 2015, 26(2), 90-92.
  • Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V. . Neuromuscular Disorders 2015, 25(4), 349-352.
  • Blain AM, Greally E, Laval SH, Blamire AM, MacGowan GA, Straub VW. . Neuromuscular Disorders 2015, 25(1), 24-31.
  • Blain A, Greally E, Laval SH, Blamire AM, MacGowan GA, Straub VW. . Journal of Cardiovascular Translational Research 2015, 8(3), 198-207.
  • Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmuller H. . Journal of Neurology, Neurosurgery & Psychiatry 2014, 85(12), 1359-1365.
  • Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H. . Brain 2014, 137(1), 44-56.
  • Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery PF, Sarkozy A. . Journal of Neurology, Neurosurgery & Psychiatry 2014, 85(3), 331-338.
  • Landfeldt R, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. . Neurology 2014, 83(6), 529-536.
  • Voit T, Topaloglu H, Straub V, Muntoni F, Deconinck N, Campion G, De Kimpe SJ, Eagle M, Guglieri M, Hood S, Liefaard L, Lourbakos A, Morgan A, Nakielny J, Quarcoo N, Ricotti V, Rolfe K, Servais L, Wardell C, Wilson R, Wright P, Kraus JE. . The Lancet Neurology 2014, 13(10), 987-996.
  • Rutschow D, Bauer R, Gohringer C, Bekeredjian R, Schinkel S, Straub V, Koenen M, Weichenhan D, Katus HA, Muller OJ. . European Journal of Human Genetics 2014, 22(1), 119-125.
  • Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. . Human Molecular Genetics 2014, 23(9), 2339-2352.
  • Willis TA, Hollingsworth KG, Coombs A, Sveen M-L, Andersen S, Stojkovic T, Eagle M, Mayhew A, Loureiro de Sousa P, Dewar L, Morrow JM, Sinclair CDJ, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel J-Y, Carlier PG, Vissing J, Straub V. . PLoS ONE 2014, 9, e90377.
  • Haberlova J, Mitrovic Z, Zarkovic K, Lovric D, Baric V, Berlengi L, Bilic K, Fumic K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Baric I, Lochmuller H. . Neuromuscular Disorders 2014, 24(11), 990-992.
  • Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, DeGrassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, vonderHagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H. . Journal of Neuromuscular Diseases 2014, 1(1), 75-90.
  • Hicks D, Farsani G, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann C, Roberts M, Lochmüller H, Bushby K, Straub V. . Human Molecular Genetics 2014, 23(9), 2353-2363.
  • Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. . Human Molecular Genetics 2014, 23(9), 2353-2363.
  • Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GVG, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmuller H. . Journal of Neurology 2014, 261(1), 152-163.
  • Hollingsworth KG, Higgins DM, McCallum M, Ward L, Coombs A, Straub V. . Magnetic Resonance in Medicine 2014, 72(6), 1610-1619.
  • Hollingsworth KG, Higgins DM, McCallum M, Ward L, Coombs A, Straub V. . Magnetic Resonance in Medicine 2014, 72(6), 1610-1619.
  • van Ruiten HJA, Straub V, Bushby K, Guglieri M. . Archives of Disease in Childhood 2014, 99(12), 1074-1077.
  • Martin FC, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmuller H, Niks EH, Verschuuren JJGM, Aartsma-Rus A, Deelder AM, van der Burgt YEM, 't Hoen PAC. . Proteomics - Clinical Applications 2014, 8(3-4), 269-278.
  • Anthony K, Arechavala-Gomeza V, Taylor LE, Vulin A, Kaminoh Y, Torelli S, Feng L, Janghra N, Bonne G, Beuvin M, Barresi R, Henderson M, Laval S, Lourbakos A, Campion G, Straub V, Voit T, Sewry CA, Morgan JE, Flanigan KM, Muntoni F. . Neurology 2014, 83(22), 2062-2069.
  • Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. . JAMA Neurology 2014, 71(1), 32-40.
  • Ayoglu B, Chaouch A, Lochmuller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Ponten F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlen M, Cirak S, 't Hoen PAC, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Szigyarto CA. . EMBO Molecular Medicine 2014, 6(7), 918-936.
  • Rodger S, Lochmuller H, Tassoni A, Gramsch K, Konig K, Bushby K, Straub V, Korinthenberg R, Kirschner J. . Orphanet Journal of Rare Disease 2013, 8, 171.
  • Hollingsworth KG, Willis TA, Bates MG, Dixon BJ, Lochmüller H, Bushby K, Bourke J, MacGowan GA, Straub V. . European Journal of Heart Failure 2013, 15(9), 986-994.
  • Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CDJ, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. . PLoS ONE 2013, 8(8), e70993.
  • Wagner M, Chaouch A, Muller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmuller H. . Neuromuscular Disorders 2013, 23(1), 89-92.
  • Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamande S, Hu Y, Gualandi F, Auh S, Muntoni F, Bonnemann CG. . Brain 2013, 136(12), 3625-3633.
  • Hollingsworth KG, Garrood P, Eagle M, Bushby K, Straub V. . Muscle & Nerve 2013, 48(4), 586-588.
  • Greally E, Davison BJ, Blain A, Laval S, Blamire A, Straub V, MacGowan GA. . Journal of Cardiovascular Magnetic Resonance 2013, 15, 4.
  • Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. . PLoS One 2013, 8(11), e80263.
  • Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F, North Star Clinical Network. . Developmental Medicine & Child Neurology 2013, 55(11), 1046-1052.
  • Blain A, Greally E, Laval S, Blamire A, Straub V, MacGowan GA. . PLoS One 2013, 8(2), e57260.
  • Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Penisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Glaser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmuller H. . Human Mutation 2013, 34(8), 1111-1118.
  • Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. . Brain 2012, 135(6), 1695-1713.
  • Baumann M, Giunta C, Krabichler B, Ruschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou YQ, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C. . American Journal of Human Genetics 2012, 90(2), 201-216.
  • Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Glaser D, Carlier PG, Bushby K, Lochmuller H, Straub V. . Neuromuscular Disorders 2012, 22(s2), S122-S129.
  • Guergueltcheva V, Muller J, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera C, Nascimento A, Vilchez J, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb J, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein O, Najafi A, Urtizberea A, Soler D, Muntoni F, Hanna M, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmuller H. . Journal of Neurology 2012, 259(5), 838-850.
  • Klein A, Lillis S, Munteanu I, Scoto M, Zhou HY, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. . Human Mutation 2012, 33(6), 981-988.
  • Blain A, Greally E, Laval S, Blamire A, MacGowan G, Straub V. . Biocybernetics and Biomedical Engineering 2012, 32(4), 3-15.
  • Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmuller H, Ginjaar HB, Aartsma-Rus AM, van Ommen GJB, den Dunnen JT, 't Hoen PAC. . Neuromuscular Disorders 2011, 21(8), 569-578.
  • Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmuller H, Bushby K, Straub V. . European Journal of Human Genetics 2011, 19(10), 1038-1044.
  • Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmuller H, Serdaroglu-Oflazer P. . Neurology 2011, 76(3), 227-235.
  • Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F. . Neurology 2011, 76(4), 346-353.
  • Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F, Straub V (collaborator), Sarkozy A (collaborator), Strehle E (collaborator), Venkateswaran R (collaborator), North Star Clinical Network for Paediatric Neuromuscular Disease. . Developmental Medicine and Child Neurology 2011, 53(6), 535-542.
  • Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. . Neuromuscular Disorders 2011, 21(3), 194-203.
  • Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez Mallebrera C, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. . American Journal of Human Genetics 2011, 88(2), 162-172.
  • Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. . The Lancet 2011, 378(9791), 595-605.
  • Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van-den-Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F. . Brain 2011, 134(12), 3547-3559.
  • Wood AJ, Muller JS, Jepson CD, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V. . Human Molecular Genetics 2011, 20(24), 4879-4890.
  • Wilmshurst J, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller C, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling J, Al-Sarraj S, Treves S, Abbs S, Manzur A, Sewry C, Muntoni F, Jungbluth H. . Annals of Neurology 2010, 68(5), 717-726.
  • Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry C, Morgan J, Muntoni F. . Neuromuscular Disorders 2010, 20(5), 295-301.
  • Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K. . Human Mutation 2010, 31(7), E1544-E1550.
  • Geranmayeh F, Clement E, Feng L, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs A, Jungbluth H, De Goede C, Lynch B, Lin J, Chow G, Sousa C, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. . Neuromuscular Disorders 2010, 20(4), 241-250.
  • Klinge L, Harris JB, Charlton R, Laval S, Hornsey M, Chiu Y, Straub V, Lochmuller H, Bushby K. . Muscle and Nerve 2010, 41(2), 166-173.
  • Goehringer C, Rutschow D, Bauer R, Schinkel S, Weichenhan D, Bekeredjian R, Straub V, Kleinschmidt JA, Katus HA, Muller OJ. . Cardiovascular Research 2009, 82(3), 404-410.
  • Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, Landeghem vanF, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG. . European Journal of Human Genetics 2009, 17(5), 656-63.
  • Bauer R, Hudson J, Müller HD, Sommer C, Dekomien G, Bourke J, Routledge D, Bushby K, Klepper J, Straub V. . European Journal of Human Genetics 2009, 17(9), 1148-1153.
  • Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby KMD. . Brain 2009, 132(1), 147-155.
  • Bauer R, Straub V, Blain A, Bushby K, MacGowan GA. . European Journal of Heart Failure 2009, 11(5), 463-471.
  • Chiu YH, Hornsey MA, Klinge L, Jorgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmuller H, Bushby K. . Human Molecular Genetics 2009, 18(11), 1976-1989.
  • Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K. . Neuromuscular Disorders 2008, 18(11), 894-903.
  • Straub VW, Bushby KMD. . Neurotherapeutics 2008, 5(4), 619-626.
  • Bauer R, MacGowan GA, Blain A, Bushby K, Straub V. . Cardiovascular Research 2008, 79(4), 652-661.
  • Klinge L, Dekomien G, Aboumousa A, Charlton RG, Epplen JT, Barresi R, Bushby KMD, Straub VW. . Neuromuscular Disorders 2008, 18(12), 934-941.
  • Garrood PVA, Eagle M, Jardine PE, Bushby KMD, Straub VW. . Neuromuscular Disorders 2008, 18(1), 71-73.
  • Guglieri M, Straub V, Bushby K, Lochmüller H. . Current Opinion in Neurology 2008, 21(5), 576-584.
  • Klinge L, Dean AF, Kress W, Dixon P, Charlton RG, Müller JS, Anderson LV, Straub VW, Barresi R, Lochmüller H, Bushby K. . Neuromuscular Disorders 2008, 18(4), 288-290.
  • Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang R-Z, Finkel RS, Tennekoon G, Schreiber G, Van Der Knaap MS, Marks H, Straub V, Flanigan KM, Chu M-L, Muntoni F, Bushby KMD, Bonnemann CG. . Human Mutation 2008, 29(6), 809-822.
  • Thornhill P, Bassett D, Lochmuller H, Bushby K, Straub V. . Brain 2008, 131(6), 1551-1561.
  • Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. . Neuromuscular Disorders 2008, 18(7), 572-578.
  • Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. . Annals of Neurology 2008, 64(5), 573-82.
  • Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S. . American Journal of Human Genetics 2008, 82(1), 88-99.
  • Hicks D, Lampe AK, Barresi R, Charlton RG, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller HKM, Straub VW, Bushby KMD. . Neurology 2008, 70(14), 1192-1199.
  • Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. . Annals of Neurology 2008, 63(5), 561-71.
  • Jungbluth H, Muntoni F, Ferreiro A, Core Myopathy Consortium. . Neuromuscular Disorders 2008, 18(12), 989-996.
  • Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. . Brain 2007, 130(10), 2725-2735.
  • Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Muller CR, Brown S, Treves S, Muntoni F. . Brain 2007, 130(8), 2024-2036.
  • Straub VA, Grant J, O'Shea M, Benjamin PR. . Journal of Neurophysiology 2007, 97(2), 1088-99.
  • Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, Bushby K. . FASEB Journal 2007, 21(8), 1768-1776.
  • Vavoulis DV, Straub VA, Kemenes I, Kemenes G, Feng J, Benjamin PR. . European Journal of Neuroscience 2007, 25(9), 2805-2818.
  • Huang Y, Laval SH, Van Remoortere A, Baudier J, Benaud C, Anderson LVB, Straub V, Deelder A, Frants RR, Den Dunnen JT, Bushby K, Van Der Maarel SM. . FASEB Journal 2007, 21(3), 732-742.
  • Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM. . Neuromuscular Disorders 2006, 16(9-10), 553-558.
  • Arundell M, Patel BA, Straub V, Allen MC, Janse C, O'Hare D, Parker K, Gard PR, Yeoman MS. . Neurobiology of Aging 2006, 27(12), 1880-1891.
  • Straub VA, Kemenes I, O'Shea M, Benjamin PR. . Journal of Neuroscience 2006, 26(15), 4139-4146.
  • Korneev SA, Straub V, Kemenes I, Korneeva EI, Ott SR, Benjamin PR, O'Shea M. . Journal of Neuroscience 2005, 25(5), 1188-1192.
  • Frosk P, Greenberg CR, Tennese AAP, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, De Paula F, Morgan K, Fujiwara TM, Wrogemann K. . Human Mutation 2005, 25(1), 38-44.
  • Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, Wallot M, Richards S, Voit T. . Neuromuscular Disorders 2005, 15(1), 24-31.
  • Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F. . Neurology 2005, 65(12), 1930-1935.
  • Klinge L, Straub V, Neudorf U, Voit T. . Neuropediatrics 2005, 36(1), 6-11.
  • Dohna-Schwake C, Ragette R, Mellies U, Straub V, Teschler H, Voit T. . Neurology 2004, 62(3), 513-514.
  • Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. . Neuropediatrics 2004, 35(6), 353-359.
  • Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Jones DH, Voit T, Bushby K, Muntoni F. . Neuropediatrics 2004, 35(4), 224-229.
  • Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. . Annals of Neurology 2004, 56(5), 738-741.
  • Amthor H, Egelhof T, McKinnell I, Ladd ME, Janssen I, Weber J, Sinn H, Schrenk HH, Forsting M, Voit T, Straub V. . Neuromuscular Disorders 2004, 14(12), 791-796.
  • Jungbluth H, Beggs A, Bonnemann C, Bushby K, Ceuterick-de Groote C, Estournet-Mathiaud B, Goemans N, Guicheney P, Lescure A, Lunardi J, Muntoni F, Quinlivan R, Sewry C, Straub V, Treves S, Ferreiro A. . Neuromuscular Disorders 2004, 14(11), 754-766.
  • Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. . Human Molecular Genetics 2003, 12(5), 527-534.
  • Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. . Annals of Neurology 2003, 53(4), 537-542.
  • Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K. . American Journal of Human Genetics 2003, 73(5), 1106-1119.
  • Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. . Neuromuscular Disorders 2003, 13(7-8), 579-588.
  • Korneev SA, Kemenes I, Straub V, Staras K, Korneeva EI, Kemenes G, Benjamin PR, O'Shea M. . Journal of Neuroscience 2002, 22(11), RC227.
  • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. . Nature 2002, 418(6896), 417-421.
  • Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. . American Journal of Human Genetics 2002, 71(4), 739-749.
  • Straub VA, Staras K, Kemenes G, Benjamin PR. . Journal of Neurophysiology 2002, 88(4), 1569-1583.
  • Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. . Biochemical and Biophysical Research Communications 2002, 291(5), 1283-1286.
  • Voit T, Parano E, Straub V, Schroder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R. . Neuromuscular Disorders 2002, 12(7-8), 623-630.
  • Straub V, Ratjen F, Amthor H, Voit T, Grasemann H. . Journal of Pediatrics 2002, 141(1), 132-134.
  • Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. . Annals of Neurology 2002, 51(6), 750-759.
  • Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. . Neurology 2001, 56(7), 869-877.
  • Perry SJ, Straub VA, Schofield MG, Burke JF, Benjamin PR. Neuronal expression of an FMRFamide-gated Na+ channel and its modulation by acid pH. J Neurosci 2001, 21(15), 5559-67.
  • Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LVB, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. . Human Molecular Genetics 2001, 10(25), 2851-2859.
  • Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T. . Developmental Cell 2001, 1(5), 717-724.
  • Straub VW, Benjamin PR. . Journal of Neuroscience 2001, 21(5), 1767-78.
  • Allamand V, Donahue KM, Straub V, Davisson RL, Davidson BL, Campbell KP. . Gene Therapy 2000, 7(16), 1385-1391.
  • Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kroger S, Voit T. . Human Molecular Genetics 2000, 9(15), 2335-2340.
  • Straub V, Donahue KM, Allamand V, Davisson RL, Kim YR, Campbell KP. . Magnetic Resonance in Medicine 2000, 44(4), 655-659.
  • Crosbie RH, Lebakken CS, Holt KH, Venzke DP, Straub V, Lee JC, Grady RM, Chamberlain JS, Sanes JR, Campbell KP. . Journal of Cell Biology 1999, 145(1), 153-165.
  • Straub V, Ettinger AJ, Durbeej M, Venzke DP, Cutshall S, Sanes JR, Campbell KP. . Journal of Biological Chemistry 1999, 274(39), 27989-27996.
  • Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansal D, Hrstka RF, Williamson R, Campbell KP. . Cell 1999, 98(4), 465-474.
  • F. Duclos,V. Straub,S. A. Moore,D. P. Venzke,R. F. Hrstka,R. H. Crosbie,M. Durbeej,C. S. Lebakken,A. J. Ettinger,J. van der Meulen,K. H. Holt,L. E. Lim,J. R. Sanes,B. L. Davidson,J. A. Faulkner,R. Williamson,K. P. Campbell. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol 1998, 142(6), 1461-71.
  • S. J. Perry,V. A. Straub,G. Kemenes,N. Santama,B. M. Worster,J. F. Burke,P. R. Benjamin. Neural modulation of gut motility by myomodulin peptides and acetylcholine in the snail Lymnaea. J Neurophysiol 1998, 79(5), 2460-74.
  • V. Straub,F. Duclos,D. P. Venzke,J. C. Lee,S. Cutshall,C. J. Leveille,K. P. Campbell. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol 1998, 153(5), 1623-30.
  • R. H. Crosbie,V. Straub,H. Y. Yun,J. C. Lee,J. A. Rafael,J. S. Chamberlain,V. L. Dawson,T. M. Dawson,K. P. Campbell. mdx muscle pathology is independent of nNOS perturbation. Hum Mol Genet 1998, 7(5), 823-9.
  • K. H. Holt,L. E. Lim,V. Straub,D. P. Venzke,F. Duclos,R. D. Anderson,B. L. Davidson,K. P. Campbell. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Mol Cell 1998, 1(6), 841-8.
  • F. Duclos,O. Broux,N. Bourg,V. Straub,G. L. Feldman,Y. Sunada,L. E. Lim,F. Piccolo,S. Cutshall,F. Gary,F. Quetier,J. C. Kaplan,C. E. Jackson,J. S. Beckmann,K. P. Campbell. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord 1998, 8(1), 30-8.
  • J. H. Park,V. A. Straub,M. O'Shea. Anterograde signaling by nitric oxide: characterization and in vitro reconstitution of an identified nitrergic synapse. J Neurosci 1998, 18(14), 5463-76.
  • M. A. Salih,M. Al Rayess,S. Cutshall,J. A. Urtizberea,M. H. Al-Turaiki,C. O. Ozo,V. Straub,M. Akbar,M. Abid,A. Andeejani,K. P. Campbell. A novel form of familial congenital muscular dystrophy in two adolescents. Neuropediatrics 1998, 29(6), 289-93.
  • V. Straub,K. P. Campbell. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 1997, 10(2), 168-75.
  • V. Allamand,Y. Sunada,M. A. Salih,V. Straub,C. O. Ozo,M. H. Al-Turaiki,M. Akbar,T. Kolo,H. Colognato,X. Zhang,L. M. Sorokin,P. D. Yurchenco,K. Tryggvason,K. P. Campbell. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet 1997, 6(5), 747-52.
  • V. Straub,J. A. Rafael,J. S. Chamberlain,K. P. Campbell. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol 1997, 139(2), 375-85.
  • R. Herrmann,V. Straub,K. Meyer,T. Kahn,M. Wagner,T. Voit. Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 1996, 155(11), 968-76.
  • D. Jung,F. Duclos,B. Apostol,V. Straub,J. C. Lee,V. Allamand,D. P. Venzke,Y. Sunada,C. R. Moomaw,C. J. Leveille,C. A. Slaughter,T. O. Crawford,J. D. McPherson,K. P. Campbell. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996, 271(50), 32321-9.
  • T. Voit,C. A. Sewry,K. Meyer,R. Hermann,V. Straub,F. Muntoni,T. Kahn,R. Unsold,T. R. Helliwell,R. Appleton,et al. Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995, 26(3), 148-55.
  • V. Straub,R. E. Bittner,J. J. Leger ,T. Voit. Direct visualization of the dystrophin network on skeletal muscle fiber membrane. J Cell Biol 1992, 119(5), 1183-91.

• Book Chapters

  • Hedley V, Leary R, Sen A, Irvin A, Heslop E, Straub V. . In: Elke Gasthuys; Mark Turner; Lien Dossche; Karel Allegaert, ed. Essentials of Translational Pediatric Drug Development: From Past Needs to Future Opportunities. Amsterdam: Academic Press, 2024, pp.483-507.
  • Burki U, Straub V. . In: Morpholino Oligomers. Humana Press, 2017, pp.265-277.
  • Straub V, De Waele L, Barresi R. . In: Muscle Disease: Pathology and Genetics: Second Edition. John Wiley & Sons, Inc, 2013, pp.108-117.
  • Straub V, De Waele L, Barresi R. . In: Muscle Disease: Pathology and Genetics: Second Edition. Wiley Blackwell, 2013, pp.225-233.

• Conference Proceedings (inc. Abstracts)

  • Bouquillon L, Pattni J, Bindman D, Geagan C, Conn R, McDonald R, Turner C, Rodney S, Johnson A, Guglieri M, Straub V, Quinlivan R. . In: World Muscle Society. 2024, Prague: Elsevier.
  • Galloway A, Cox D, Töpf A, Hilsden H, Guglieri M, Marini-Bettolo C, Díaz-Manera J, Straub V. . In: 16th UK Neuromuscular Translational Research Conference. 2023, London: IOS Press.
  • Warman-Chardon J, Diaz-Manera J, Tasca G, Straub V. . In: 247th ENMC International Workshop. 2019, Hoofddorp, the Netherlands: Elsevier Ltd.
  • Strehle EM, Johnson K, Rakocevic-Stojanovic V, Peric S, Farrugia M, Longman C, Straub V. . In: 22nd International Congress of the World Muscle Society. 2017, St Malo, France: Elsevier.
  • Nikolenko N, Wood L, Turner C, Hilton-Jones D, Atalaia A, Marini-Bettolo C, Maddison P, Philips M, Roberts M, Rogers M, Straub V, Hammans S, Lochmuller H. . In: 14th International Congress on Neuromuscular Diseases (ICNMD XIV). 2016, Toronto, Canada: IOS Press.
  • Johnson K, Bertoli M, Phillips L, Töpf A, Lek M, Xu L, MacArthur D, Straub V. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Roos A, Beltran S, Piscia D, Laurie S, Protasio J, Canada A, Fernandez J, Kaliyaperuma R, Lair S, Sernadela P, Girdea M, Thompson R, Straub V, Roos M, T'Hoen P, Valencia A, Salgado D, Beroud C, Gut I, Lochmuller H. . In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
  • Domingos J, Eagle M, Moraux A, Butler J, Decostre V, Ridout D, Mayhew A, Selby V, Guglieri M, Van der Holst M, Jansen M, Verschuuren J, de Groot I, Niks E, Servais L, Hogrel J, Straub V, Voit T, Ricotti V, Muntoni F. . In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
  • Roos A, Cox D, Reza M, Guglieri M, Straub V, Lochmuller H. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Ortez C, Nascimento A, Jimenez-Mallebrera C, Jou C, Llano M, Rodriguez A, Topf A, Johnson K, Straub V, Olive M, Codina A, Corbera J, Colomer J. . In: 21st International Congress of the World Muscle Society. 2016, Grenada, Spain: Elsevier.
  • Bagdatlioglu E, Porcari P, O'Hogain D, Greally E, Laval S, Blamire A, Straub V. . In: 9th UK Annual Neuromuscular Research Conference. 2016, Oxford (UK): Centre for Neuromuscular Diseases.
  • Phillips L, Töpf A, Johnson K, Bertoli M, Xu L, Lek M, Claeys K, Van den Bergh P, Vissing J, Colomer J, Wallgren-Patterson C, de Munain AL, Vilchez J, Kostera-Pruszczyk A, MacArthur D, Straub V. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Ortez C, Jou C, Campistol J, Nascimento A, Jimenez-Mallebrera C, Topf A, Johnson K, Straub V, Codina A, Corbera J, Colomer J. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Porcari P, Greally E, Straub V, Blamire AM. . In: ISMRM workshop on Breaking the barriers in Diffusion MRI. 2016, Lisbon (Portugal).
  • Johnson K, Bertoli M, Phillips L, Töpf A, Claeys K, Stojanovic VR, Perić S, Vissing J, Hahn A, Maddison P, Akay E, Bastian A, Łusakowska A, Lek M, Xu L, MacArthur D, Straub V. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Oates E, Yau K, Donkervoort S, Swanson L, Brammah S, Topf A, Richard I, Ferreiro A, Hoffman E, Bushby K, Straub V, Udd B, Lek M, MacArthur D, Granzier H, Beggs A, Bonnemann C, North K, Davis M, Laing N. . In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
  • Topf A, Nikodinović Glumac J, Perić S, Cassop-Thompson M, Bertoli M, Johnson K, Phillips L, MacArthur D, Rakočević Stojanović V, Straub V. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Van den Bergh P, Sznajer Y, Van Parijs V, van Tol W, Wevers R, Lefeber D, Xu L, Lek M, MacArthur D, Xu L, Lek M, MacArthur D, Johnson K, Phillips L, Topf A, Straub V. . In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Wells D, Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner K, Caizergues D, Korinthenberg R, Flanigan K, Mendell J, Kelly M, Kaufmann P, McNeil E, Robertson A, Johnston L, Bushby K. . In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Hudson J, Graham E, Charlton R, Guglieri M, Bushby K, Straub V, Barresi R. . In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Veldhuizen O, Wood C, Murphy A, Thompson R, Krogh NS, Straub V. . In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Gardiner A, Scalco R, Parton M, Hanna M, Pitceathly R, Zanoteli E, Murphy E, Treves S, Houlden H, Wilmshurst J, Straub V, Hilton-Jones D, Voermans N, Manzur A, Oflazer R, Reed U, Lachmann R, Quinlivan R, Jungbluth H, RM Study Grp. . In: 20th International Congress of The World Muscle Society. 2015, Brighton, UK: Elsevier Ltd.
  • Bettolo CM, van Ruiten H, Guglieri M, Eagle M, Straub V, Lochmuller H, Bushby K. . In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Ricotti V, Eagle M, Butler J, Decostre V, Deborah R, Moraux A, Anthony K, Sleby V, Guglieri M, van der Holst M, Jansen M, Morgan J, de Groot I, Niks E, Verschuuren J, Servais L, Hogrel JY, Voit T, Straub V, Muntoni F. . In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Bagdatlioglu E, Greally E, Porcari P, Laval S, Blamire A, Straub V. . In: 8th UK Neuromuscular Translational Research Conference. 2015, 麻豆传媒 upon Tyne: Centre for Neuromuscular Diseases.
  • Porcari P, Greally E, Straub V, Blamire AM. . In: ISMRM 23rd Annual Scientific Meeting & Exhibition. 2015, Toronto (Canada): International Society for Magnetic Resonance in Medicine.
  • Jimenez C, Moreno, Eagle M, Mayhew A, James M, Straub V, Bushby K. . In: 20th International Congress of the The World Muscle Society. 2015, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND: Elsevier.
  • Bonnemann C, Boutin M, Brais B, Buccella F, Burghes A, Coffey C, Dasgupta N, Dawkins H, De Luca A, Dowd C, Duong T, Eagle M, Finkel R, Furlong P, Gagnon C, Goemans N, Guglieri M, Hathout Y, Johnson N, Kakkis E, Kaufmann P, Kimmelman J, Korngut L, Kullman J, Lochmuller H, Marini S, McDonald C, Mohan C, Morgenroth L, Morizono H, Nagaraju K, Porter J, Reilly L, Ruegg M, Schneider J, Spitali P, Straub V, Sweeney L, Tasca G, Turner C, Veldhuizen O, Verschuuren J, Willmann R, Ward S, Ward S. . In: TREAT-NMD International Conference. 2015, Washington, DC: Elsevier Ltd.
  • Porcari P, Greally E, Straub V, Blamire AM. . In: 8th UK Neuromuscular Translational Research Conference. 2015, 麻豆传媒 upon Tyne (UK): Centre for Neuromuscular Diseases.
  • Murphy A, Porter A, Bourke J, Straub V. . In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Turner C, Bushby K, Johnston L, Lochmuller H, Riess O, Wirth B, Straub V, Thompson R, van Ommen G. . In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Harris E, Topf A, McEntagart M, Sewry C, Straub V. . In: 20th International Congress of The World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Harris E, Hudson J, Marsh J, Bettolo CM, Neri M, Ferlini A, Bushby K, Lochmuller H, Straub V, Barresi R. . In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Pergamon Press.
  • Bertoli M, Topf A, Harris E, Laval S, Sarkozy A, Lochmuller H, Lynch S, Straub V. . In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
  • Sarkozy A, Srinivasan R, Rawlings D, Guglieri M, Owen C, Straub V, Cheetham T, Bushby K. . In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
  • Straub V, Davies NP, Barresi R, Morris C, Pickthall C, Bushby K. . In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
  • Greally E, Blain AM, Ahmed ST, Laval SH, Blamire AM, Straub V. . In: 19th International Congress of The World Muscle Society. 2014, Berlin: Elsevier.
  • Guglieri M, van Ruiten HJA, Straub V, Bushby K. . In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
  • Burki U, Blain A, Laval S, Straub V. . In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
  • Guglieri M, Sambuughin N, Sarkozy A, Barresi R, Lochmuller H, Bushby K, Goldfarb LG, Straub V. . In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
  • Maerkens A, Pfeffer G, Sarkozy A, Chevessier F, Uzkoreit J, Feldkirchner S, Barresi R, Bushby K, Straub V, Oldfors A, Marcus K, Vorgerd M, Schroder R, Lochmuller H, Chinnery P, Kley RA. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Farsani GT, Hicks D, Laval S, Salih M, Seidhamed MZ, Cossins J, Beeson D, Straub V, Lochmuller H, Bushby K. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Chaouch A, Torbergsen T, Muller J, Bushby K, Straub V, Abicht A, Lochmuller H. . In: American Academy of Neurology's 65th AAN Annual Meeting. 2013, San Diego, C.A, U.S.A: Lippincott Williams & Wilkins.
  • Hicks D, Farsani GT, Laval S, Collins J, Martoni E, Shah A, Zou Y, Koch M, Bonnemann C, Lochmuller H, Bushby K, Roberts M, Straub V. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Zou Y, Zwolanek D, Hu Y, Schreiber G, Brockmann K, Izu Y, Tian Z, Devoto M, Gandhy S, Meier M, Stetefeld J, Hicks D, Straub V, Voermans N, Birk DE, Barton ER, Koch M, Bonnemann CG. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Guglieri M, Harris E, Straub V, Bushby K, Lochmuller H. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer J, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery P, Sarkozy A. . In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
  • Sarkozy A, Polvikoski T, Eagle M, Lochmuller H, Bushby K, Straub V. . In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
  • Panicker J, Lochmuller H, Bushby K, Straub V, Hicks D, Sarkozy A, Ray P. . In: Association of British Neurologists Annual Meeting 2011. 2012, London, UK: BMJ Publishing Group.
  • Reza M, Johnson D, Cox D, Laval S, Chaouch A, Barresi R, Morgan J, Bushby K, Straub V, Muntoni F, Lochmuller H. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Greally E, Blain A, Blamire AM, MacGowan G, Laval SH, Straub V. . In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
  • Greally E, Blain A, Blamire AM, MacGowan G, Laval SH, Straub V. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Wood AJ, Muller JS, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Hicks D, Martoni E, Straub V, Lochmuller H, Laval SH, Bushby K. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Pfeffer G, Griffin H, Elliott H, Straub V, Baresi R, Udd B, Chinnery PF. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Burki U, Blain A, Wilson I, Launay G, Coursindel T, Maxwell R, Carroll M, Laval S, Gait M, Straub V. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne: Elsevier Ltd.
  • Maddison J, Straub V, Lochmuller H, Turnbull D, Chinnery P, Trennell M, McFarland R, Gorman G, Horvath R, Busbhy K. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Willis TA, Hollingsworth KG, Dixon BJ, MacGowan GA, Blamire AM, Straub V. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. . In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
  • Blain A, Greally E, MacGowan G, Laval S, Blamire A, Gillender K, Lochmuller H, Bushby K, Straub V. . In: United Kingdom Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Wood A, Cumine AP, Muller J, Laval SH, Bushby K, Lochmuller H, Barresi R, Straub V. . In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
  • Henderson M, Hudson J, Marsh J, Charlton R, Straub V, Lochmuller H, Bushby K, Vissing J, Barresi R. . In: UK Neuromuscular Translational Research Conference. 2012, 麻豆传媒 upon Tyne: Pergamon.
  • 't Hoen PAC, Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Ginjaar HB, Aartsma-Rus AM, van Ommen GJB, den Dunnen JT, Lochmuller H. . In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
  • Willis TA, Hollingsworth KG, Sveen ML, Morrow J, Vandenheede J, Strojkovic T, Eagle M, Mayhew A, Bushby K, Lochmuller H, Hanna M, Vissing J, Straub V. . In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
  • Sarkozy A, Hicks D, Miller J, Walter MC, Reilich P, Radunovic A, Vaidya SS, Lochmuller H, Bushby K, Straub V. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
  • Blain AM, Greally E, Laval SH, Blamire A, Lochmuller H, Bushby K, MacGowan G, Straub VW. . In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
  • Greally E, Davison BJ, Blain A, Laval SH, Blamire AM, Straub V, MacGowan G. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
  • Wood AJ, Jepson CD, Laval SH, Bushby K, Lochmuller H, Barresi R, Muller J, Straub V. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
  • Mayhew AG, Eagle M, Willis TA, Straub V. . In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
  • Straub V, Aartsma-Rus A, Szigyarto CAK, Beroud C, Bonaldo P, Borgiani P, Braghetta P, Chaouch A, Cirak S, Courtot L, Daraselia N, Gelfi C, 't Hoen PAC, Kotelnikova E, Le Priol Y, Lochmueller H, Morgan J, Muntoni F, Novelli G, Paolillo N, Tanzi R, Turner C, Uhlen M, Ferlini A. . In: 16th International Congress of The World Muscle Society. 2011, Almancil, Algarve, Portugal: Elsevier.
  • Willis T, Hollingsworth KG, Sveen ML, Morrow JM, Sinclair CDJ, Thornton JS, Vandenheede J, Strojkovic T, Eagle M, Mayhew A, Bushby K, Lochmuller H, Hanna MG, Vissing J, Carliers P, Straub V. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
  • Blain A, Greally E, Laval S, Straub V, MacGowan G. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
  • Sarkozy A, McKenna C, Straub V, Lochmuller H, Goldfarb LG, Bushby K. . In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Elsevier Ltd.
  • Collins J, Hicks D, Sarkozy A, Lampe A, Norwood F, Straub V, Lochmüller H, Bushby K. . In: World Muscle Society Annual Congress. 2009, Geneva, Switzerland.
  • Charlton R, Henderson M, Richards J, Hicks D, Reza M, Straub V, Lochmuller H, Bushby K, Barresi R. . In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
  • Bauer R, Mac Gowan GA, Blain A, Bushby K, Straub VW. . In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Sarkozy A, Bushby K, Hilton-Jones D, Dougan CF, Lochmuller H, Windpassinger C, Straub V. . In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Bauer R, Straub VW, Blain A, Bushby K, MacGowan GA. . In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, 麻豆传媒 upon Tyne, UK: Elsevier Ltd.
  • Bushby K, Eagle M, Miller J, Strehle E, Straub V. . In: 13th International WMS Congress 29th September - 2nd October 2008, 麻豆传媒 Gateshead, UK. 2008, 麻豆传媒 Gateshead, UK: World Muscle Society.
  • Kutzick C, Herrmann R, Straub V, Steinbrecher A, Cirak S, Korenke C, Guicheney P, Schara U, Wrogemann K, Muntoni F, Faurholt-Pedersen V, Wewer U, Voit T. . In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
  • Poppe M, Laval SH, Pocock N, Wappler I, Cree LM, Haldane F, Peters H, Straub V, Bittner RE, Bushby KMD. . In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
  • Eagle M, Manzur A, Straub V, Bushby K. . In: Neuromuscular Disorders: 9th International Congress of the World Muscle Society. 2004, Goteborg, Sweden: Elsevier Ltd.
  • Frosk P, Greenberg CR, Poulin A, Lamont R, Nylen E, Zaik M, Straub V, Bushby K, Frappier D, Roslin NM, Morgan K, Fujiwara TM, Wrogemann K. . In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.

• Editorials

  • Turner M, Kalra D, Cornet R, Palmeri A, Sen A, Owen J, Pansieri C, Lee J, Hedley V, Nally S, Bonifazi F, Leary R, Straub V. . Archives of Disease in Childhood 2025, 110(3), 177-179.
  • Bushby K, Straub V. . Neurology 2010, 75(4), 298-299.

• Letters

  • Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs A-M, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. . Brain Communications 2024, 6(5).
  • Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. . Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(6), 680-681.
  • Hicks D, Lampe A, Laval S, Allamand V, Jimenez-Mallebrera C, Walter M, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmuller H, Bushby K. . Brain 2009, 132(10), e122.
  • Miller TD, Jackson AP, Barresi R, Smart CM, Eugenicos M, Summers D, Clegg S, Straub V, Stone J. . Journal of Neurology, Neurosurgery and Psychiatry 2009, 80(5), 583-584.
  • Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. . Journal of Medical Genetics 2004, 41(5), e61.

• Notes

  • Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe J-M, Denomme-Pichon A-S, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg E-J, Kellner M, Kleefstra T, Lacombe D, Lochmuller H, Lopez-Martin E, Macaya A, Marce-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasova Schwabova J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Sablauskas K, Savarese M, Schols L, Schutz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnalkova E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B, Hoogerbrugge N, de Voer RM, Vissers LELM, Verloes A, Riess O, Topf A, Evangelista T, Synofzik M, Schule R, Lohmann K, Graessner H, Brookes AJ, Ossowski S, Matalonga L, Hoischen A, Gilissen C, Brunner HG, Beltran S, Beltran S, Hoischen A. . Nature Medicine 2025, 31, 2819-2820.
  • Schule R, Timmann D, Erasmus CE, Reichbauer J, Baets J, Chinnery P, Durr A, Haack T, Hengel H, Horvath R, Houlden H, Kamsteeg E-J, Kamsteeg C, Lohmann K, Macaya A, Maver A, Molnar J, Munchau A, Peterlin B, Riess O, Schols L, Schule R, Stevanin G, Synofzik M, Timmerman V, van de Warrenburg B, van Os N, Vandrovcova J, Wayand M, Wayand M, Wilke C, van de Warrenburg B, Schols L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Synofzik M, Graessner H, Graessner H, Zurek B, Ellwanger K, Ossowski S, Demidov G, Sturm M, Schulze-Hentrich JM, Heutink P, Brunner H, Scheffer H, Hoogerbrugge N, Hoischen A, 't Hoen PAC, Vissers LELM, Gilissen C, Steyaert W, Sablauskas K, de Voer RM, Janssen E, de Boer E, Steehouwer M, Yaldiz B, Kleefstra T, Brookes AJ, Veal C, Gibson S, Wadsley M, Mehtarizadeh M, Riaz U, Warren G, Dizjikan FY, Shorter T, Topf A, Straub V, Marini Bettolo C, Specht S, Clayton-Smith J, Banka S, Alexander E, Jackson A, Faivre L, Thauvin C, Vitobello A, Denomme-Pichon A-S, Duffourd Y, Tisserant E, Bruel A-L, Peyron C, Pelissier A, Beltran S, Gut IG, Laurie S, Piscia D, Matalonga L, Matalonga L, Papakonstantinou A, Bullich G, Corvo A, Garcia C, Fernandez-Callejo M, Hernandez C, Pico D, Paramonov I, Lochmuller H, Gumus G, Bros-Facer V, Rath A, Hanauer M, Olry A, Lagorce D, Havrylenko S, Izem K, Rigour F, Durr A, Davoine C-S, Guillot-Noel L, Heinzmann A, Coarelli G, Bonne G, Evangelista T, Allamand V, Nelson I, Yaou RB, Metay C, Eymard B, Cohen E, Atalaia A, Stojkovic T, Macek M, Turnovec M, Thomasova D, Kremlikova RP, Frankova V, Havlovicova M, Kremlik V, Parkinson H, Keane T, Spalding D, Senf A, Robinson P, Danis D, Robert G, Costa A, Patch C, Hanna M, Houlden H, Reilly M, Vandrovcova J, Muntoni F, Zaharieva I, Sarkozy A, de Jonghe P, Nigro V, Banfi S, Torella A, Musacchia F, Piluso G, Ferlini A, Selvatici R, Rossi R, Neri M, Aretz S, Spier I, Sommer AK, Peters S, Oliveira C, Pelaez JG, Matos AR, Jose CS, Ferreira M, Gullo I, Fernandes S, Garrido L, Ferreira P, Carneiro F, Swertz MA, Johansson L, van der Velde JK, van der Vries G, Neerincx PB, Roelofs-Prins D, Kohler S, Metcalfe A, Verloes A, Drunat S, Rooryck C, Trimouille A, Castello R, Morleo M, Pinelli M, Varavallo A, De la Paz MP, Sanchez EB, Martin EL, Delgado BM, de la Rosa FJAG, Ciolfi A, Dallapiccola B, Pizzi S, Radio FC, Tartaglia M, Renieri A, Benetti E, Balicza P, Balicza P, Molnar MJ, Maver A, Peterlin B, Munchau A, Lohmann K, Herzog R, Pauly M, Macaya A, Marce-Grau A, Marce-Grau A, Osorio AN, de Benito DN, Lochmuller H, Thompson R, Polavarapu K, Beeson D, Cossins J, Cruz PMR, Hackman P, Johari M, Savarese M, Udd B, Horvath R, Capella G, Valle L, Holinski-Feder E, Laner A, Steinke-Lange V, Schrock E, Rump A. . European Journal of Human Genetics 2021, 29, 1462–1465.
  • Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, Ambridge K, Barrett DM, Bayzetinova T, Jones P, Jones WD, King D, Krishnappa N, Mason LE, Singh T, Tivey AR, Ahmed M, Anjum U, Archer H, Armstrong R, Awada J, Balasubramanian M, Banka S, Baralle D, Barnicoat A, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Bitner-Glindzicz M, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Bradley L, Brady A, Brent S, Brewer C, Brunstrom K, Bunyan DJ, Burn J, Canham N, Castle B, Chandler K, Chatzimichali E, Cilliers D, Clarke A, Clasper S, Clayton-Smith J, Clowes V, Coates A, Cole T, Colgiu I, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, de Vries D, Dean J, Deshpande C, Devlin G, Dixit A, Dobbie A, Donaldson A, Donnai D, Donnelly D, Donnelly C, Douglas A, Douzgou S, Duncan A, Eason J, Ellard S, Ellis I, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fry A, Fryer A, Gardiner C, Gaunt L, Ghali N, Gibbons R, Gill H, Goodship J, Goudie D, Gray E, Green A, Greene P, Greenhalgh L, Gribble S, Harrison R, Harrison L, Harrison V, Hawkins R, He L, Hellens S, Henderson A, Hewitt S, Hildyard L, Hobson E, Holden S, Holder M, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Hutton B, Ingram S, Irving M, Islam L, Jackson A, Jarvis J, Jenkins L, Johnson D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kelsell R, Kerr B, Kingston H, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Kumar VKA, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Longman C, Lowther G, Lynch SA, Magee A, Maher E, Male A, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, McWilliam C, Mehta S, Metcalfe K, Middleton A, Miedzybrodzka Z, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morton J, Mugalaasi H, Murday V, Murphy H, Naik S, Nemeth A, Nevitt L, Norman A, O'Shea R, Ogilvie C, Ong K-R, Park S-M, Parker MJ, Patel C, Paterson J, Payne S, Perrett D, Phipps J, Pilz DT, Pollard M, Pottinger C, Poulton J, Pratt N, Prescott K, Pridham A, Procter A, Purnell H, Quarrell O, Ragge N, Rahbari R, Randall J, Raymond L, Rice D, Robert L, Roberts E, Roberts J, Roberts P, Roberts G, Ross A, Rosser E, Saggar A, Samant S, Sampson J, Sandford R, Sarkar A, Schweiger S, Scott R, Scurr I, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Sheridan E, Simonic I, Singzon R, Skitt Z, Smith A, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Straub V, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tischkowitz M, Tomkins S, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Varghese V, Vasudevan P, Vijayarangakannan P, Vogt J, Wakeling E, Wallwark S, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Wilkinson E, Williams D, Williams N, Wilson L, Woods G, Wragg C, Wright M, Yates L, Yau M, Nellaker C, Parker M, Firth HV, Wright CF, FitzPatrick DR, Barrett JC, Hurles ME, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. . Nature Communications 2019, 10(1), 2079.
  • Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmiiller H, Bushby K. . Neuromuscular Disorders 2016, 26(4-5), 329-329.
  • Klein A, Lillis S, Munteanu I, Scoto M, Zhou HY, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. . Human Mutation 2012, 33(8), 1310-1310.

• Online Publications

  • Palmeri A, Kalra D, Cornet R, Sen A, Lee J, Hedley V, Trueman J, Nally S, Leary R, Turner MA, Straub V. . conect4children, 2024. Available at: .
  • McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade M-C, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. . 2013. Available at: .

• Reviews

  • Diaz-Manera J, Walter G, Straub V. . Muscle and Nerve 2021, 63(5), 640-650.
  • Specht S, Straub V. . Neuromuscular Disorders 2021, 31(10), 988-997.
  • Chardon JW, Diaz-Manera J, Tasca G, Bonnemann CG, Gomez-Andres D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torron RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY. . Neuromuscular Disorders 2019, 29(11), 827-841.
  • Strijkers GJ, Araujo ECA, Azzabou N, Bendahan D, Blamire A, Burakiewicz J, Carlier PG, Damon B, Deligianni X, Froeling M, Heerschap A, Hollingsworth KG, Hooijmans MT, Karampinos DC, Loudos G, Madelin G, Marty B, Nagel AM, Nederveen AJ, Nelissen JL, Santini F, Scheidegger O, Schick F, Sinclair C, Sinkus R, De Sousa PL, Straub V, Walter G, Kan HE. . Journal of Neuromuscular Diseases 2019, 6(1), 1-30.
  • Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs A-M, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. . Trials 2018, 19(1), 291.
  • Straub V, Bertoli M. . Neuromuscular Disorders 2016, 26(2), 111-125.
  • Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. . Archives of Disease in Childhood 2016, 101(1), 101-106.
  • Wood CL, Bettolo CM, Bushby K, Straub V, Rawlings D, Sarkozy A, Owen C, Cheetham TD. . Expert Opinion on Orphan Drugs 2016, 4(4), 407-416.
  • Strehle EM, Straub V. . Archives of Disease in Childhood 2015, 100(12), 1173-1177.
  • Johnston L, Thompson R, Turner C, Bushby K, Lochmuller H, Straub V. . Expert Opinion on Orphan Drugs 2014, 2(11), 1211-1219.
  • Blain AM, Straub VW. . Skeletal Muscle 2011, 1(1), 13.
  • Straub V, Bushby K. . Seminars in Pediatric Neurology 2006, 13(2), 104-114.
  • Bushby K, Straub V. . Current Opinion in Neurology 2005, 18(5), 511-518.
  • Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. . Neuromuscular Disorders 2002, 12(9), 889-896.