Publications

• 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. Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F. Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child: Care, Health and Development 2013, 39(3), 449-455.
• Guglieri M, Smith J, Eagle M, Scott E, Griggs R, Bushby K. Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD). In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
• 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. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 2011, 134(12), 3547-3559.
• 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. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. The Lancet 2011, 378(9791), 595-605.
• Dick E, Matsa E, Bispham J, Reza M, Guglieri M, Staniforth A, Watson S, Kumari R, Lochmuller H, Young L, Darling D, Denning C. Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines. Stem Cell Research 2011, 6(2), 158-167.
• Guglieri M, Bushby K. Molecular treatments in Duchenne muscular dystrophy. Current Opinion in Pharmacology 2010, 10(3), 331-337.
• 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. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human Mutation 2010, 31(7), E1544-E1550.
• 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. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders 2010, 20(5), 295-301.
• Wood CL, Hollingsworth KG, Hughes E, Punniyakodi S, Muni-Lofra R, Mayhew A, Mitchell RT, Guglieri M, Cheetham TD, Straub V. Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area. European Journal of Endocrinology 2021, 184(1), 67-79.
• Smith EC, Conklin LS, Hoffman EP, Clemens PR, Mah JK, Finkel RS, Guglieri M, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, Kerchner L, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, Gordish-Dressman H, Hagerty L, Dang UJ, Damsker JM, Schwartz BD, Mengle-Gaw LJ, McDonald CM. Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study. PLoS Medicine 2020, 17(9), e1003222.
• Heier CR, Zhang A, Nguyen NY, Tully CB, Panigrahi A, Gordish-Dressman H, Pandey SN, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith EC, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Mah JK, Fiorillo AA, Chen Y-W. Multi-omics identifies circulating mirna and protein biomarkers for facioscapulohumeral dystrophy. Journal of Personalized Medicine 2020, 10(4), 236.
• Alonso-Perez J, Gonzalez-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, de Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuss A, Lokken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andres D, Munell F, Costa-Comellas L, Haberlova J, Rohlenova M, Elke DV, de Bleecker JL, Dominguez-Gonzalez C, Tasca G, Weiss C, Deconinck N, Fernandez-Torron R, de Munain AL, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernandez JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Diaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain 2020, 143(9), 2696-2708.
• Wagner KR, Abdel-Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera-Pruszczyk A, Karachunski P, Butterfield RJ, Mercuri E, Fiorillo C, Bertini ES, Tian C, Statland J, Sadosky AB, Purohit VS, Sherlock SP, Palmer JP, Binks M, Charnas L, Marraffino S, Wong BL. Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Neuromuscular Disorders 2020, 30(6), 492-502.
• Clemens PR, Niizawa G, Feng J, Florence J, D'Alessandro AS, Morgenroth LP, Gorni K, Guglieri M, Connolly A, Wicklund M, Bertorini T, Mah JK, Thangarajh M, Smith E, Kuntz N, McDonald CM, Henricson EK, Upadhyayula S, Byrne B, Manousakis G, Harper A, Bravver E, Iannaccone S, Spurney C, Cnaan A, Gordish-Dressman H. The CINRG Becker Natural History Study: Baseline Characteristics. Muscle & Nerve 2020, 62(3), 369-376.
• Bourke JP, Guglieri M, Duboc D, Aartsma-Rus A, Bandali A, Bennett N, Cools B, Cripe L, de Groot I, Dittrich S, Florian A, Furlong P, Goemans N, Hor K, van Leperen F, MacGowan G, McNally E, Pegoraro E, Politano L, Sediva M, Stara V, Timmermans J, Vroom E, Wahbi K. 238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018. In: Neuromuscular Disorders. 2019, Hoofddorp, The Netherlands: Elsevier Ltd.
• Muntoni F, Domingos J, Manzur AY, Mayhew A, Guglieri M, Sajeev G, Signorovitch J, Ward SJ. Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS ONE 2019, 14(9), e0221097.
• Joseph S, Wang C, Bushby K, Guglieri M, Horrocks I, Straub V, Ahmed SF, Wong SC. Fractures and Linear Growth in a Nationwide Cohort of Boys with Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results from the UK NorthStar Database. JAMA Neurology 2019, 76(6), 701-709.
• Wood CL, Cheetham TD, Hollingsworth KG, Guglieri M, Ailins-Sahun Y, Punniyakodi S, Mayhew A, Straub V. Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy. BMC Pediatrics 2019, 19(1), 131.
• 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. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscular Disorders 2018, 28(1), 48-53.
• 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. A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial. Trials 2018, 19(1), 291.
• Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, De Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen Y-W. A multinational study on motor function in early-onset FSHD. Neurology 2018, 90(15), e1333-e1338.
• Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR. Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. Pharmacological Research 2018, 136, 140-150.
• Bourke JP, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, Speed C, McColl E, Chikermane A, Jayawant S, Adwani S, Willis T, Wilkinson J, Bryant A, Chadwick T, Wood R, Bushby K. Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. BMJ open 2018, 8(12), e022572-.
• Mccaffrey T, Guglieri M, Murphy AP, Bushby K, Johnson A, Bourke JP. Cardiac involvement in female carriers of duchenne or becker muscular dystrophy. Muscle and Nerve 2017, 55(6), 810-818.
• 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. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemporary Clinical Trials 2017, 58, 34-39.
• DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmuller H. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). Journal of Neurology 2017, 264, 701-708.
• 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. Reduced serum myostatin concentrations associated with genetic muscle disease progression. Journal of Neurology 2017, 264(3), 541-553.
• 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. Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. Journal of Neurology 2017, 264(6), 1271-1280.
• Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmiiller H, Bushby K. Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015). Neuromuscular Disorders 2016, 26(4-5), 329-329.
• Evanelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Refferty K, Guglieri Ml, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. Journal of Neurology 2016, 263(7), 1401-1408.
• Roos A, Cox D, Reza M, Guglieri M, Straub V, Lochmuller H. MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
• 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. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(6), 680-681.
• 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. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials. In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
• 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. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016, 87(3), 295-298.
• Srinivasan R, Rawlings D, Wood CL, Cheetham T, Moreno ACJ, Mayhew A, Eagle M, Guglieri M, Straub V, Owen C, Bushby K, Sarkozy A. Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. Muscle & Nerve 2016, 54(1), 79-85.
• Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Quantifying the burden of caregiving in Duchenne muscular dystrophy. Journal of Neurology 2016, 263(5), 906-915.
• Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Archives of Disease in Childhood 2016, 101(1), 101-106.
• 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. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(2), 149-155.
• Van Ruiten HJA, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. European Journal of Paediatric Neurology 2016, 20(6), 904-909.
• Davis R, Guglieri M, Hart K, McColl E, Herr B, Martens W, Wilkinson J, Eagle M, King W, Brawn M, McDermott M, Tawil R, Hirtz D, Kirschner J, Bushby K, Griggs RC. Anticipating and overcoming obstacles in setting up NIH funded academic led, international clinical trials in rare disease - learning from for DMD. In: Muscle Study Group Meeting: Experimental Therapeutics Across the Spectrum of Neuromuscular Disease. 2015, Snowbird, Utah, USA: Wiley-Blackwell.
• Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT). Neuromuscular Disorders 2015, 25(12), 937-944.
• Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study. Developmental Medicine & Child Neurology 2015, 58(5), 508-515.
• Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmüller H, Morris C. Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy. Journal of Neuromuscular Diseases 2015, 2(3), 241-255.
• 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. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials. In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
• Bettolo CM, van Ruiten H, Guglieri M, Eagle M, Straub V, Lochmuller H, Bushby K. Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England. In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
• Guglieri M, Hart K, McColl E, Herr B, Martens W, Wilkinson J, Eagle M, King W, Brawn M, McDermott M, Tawil R, Hirtz D, Kirschner J, Griggs RC, Bushby K. Recruitment in the FOR-DMD study - double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD). In: Muscle Study Group Meeting, Experimental Therapeutics Across the Spectrum of Neuromuscular Disease. 2015, Snowbird, Utah, USA: Wiley-Blackwell.
• Wood CL, Cheetham TD, Guglieri M, Bushby K, Owen C, Johnstone H, Straub V. Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy. Neuropediatrics 2015, 46(6), 371-376.
• McCaffrey T, Murphy A, Guglieri M, Bushby K, Bourke J. The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis. In: 20th International Congress of The World Muscle Society. 2015, Brighton, UK: Pergamon Press.
• Hudson J, Graham E, Charlton R, Guglieri M, Bushby K, Straub V, Barresi R. The importance of dosage analysis in dysferlinopathy. In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
• Guglieri M, Sambuughin N, Sarkozy A, Barresi R, Lochmuller H, Bushby K, Goldfarb LG, Straub V. Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations. In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
• 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. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping. JAMA Neurology 2014, 71(1), 32-40.
• 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. Fibronectin is a serum biomarker for Duchenne muscular dystrophy. Proteomics - Clinical Applications 2014, 8(3-4), 269-278.
• van Ruiten HJA, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Archives of Disease in Childhood 2014, 99(12), 1074-1077.
• Guglieri M, van Ruiten HJA, Straub V, Bushby K. Improving the diagnosis of Duchenne muscular dystrophy. In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
• Sarkozy A, Srinivasan R, Rawlings D, Guglieri M, Owen C, Straub V, Cheetham T, Bushby K. Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience. In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
• 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. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. The Lancet Neurology 2014, 13(10), 987-996.
• Landfeldt R, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. The burden of Duchenne muscular dystrophy: An international, cross-sectional study. Neurology 2014, 83(6), 529-536.
• 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. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation 2013, 34(8), 1111-1118.
• Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Guglieri M, Harris E, Straub V, Bushby K, Lochmuller H. Clinical and molecular analysis of a large cohort of patients with anoctaminopathy. In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
• 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. Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy. PLoS One 2013, 8(11), e80263.