Publications
Articles in scientific journals
Natural history of LGMD2A for delineating outcome measures in clinical trials
Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F; Calpainopathy Study Group, Eymard B, Mignard C, Lopez de Munain A, Fardeau M, Urtizberea JA. Ann Clin Transl Neurol. 2016. 4;3(4):248-65. Observational study of clinical manifestations and disease progression...
Broadening The Imaging Phenotype of Dysferlinopathy at Different Disease Stages
Díaz J, Woudt L, Suazo L, Garrido C, Caviedes P, Cardenas AM, Castiglioni C, Bevilacqua JA. Muscle Nerve. 2016. 54(2):203-10. The study aimed at describes MRI of dysferlinopathy and to correlate it with objective measures of motor dysfunction.MRI infiltration score...
Myotonic dystrophy type 1: frequency of ophthalmologic findings
Ikeda KS, Iwabe-Marchese C, França MC Jr, Nucci A, Carvalho KM. Arq Neuropsiquiatr. 2016. 74(3):183-8. The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them...
Toward an objective measure of functional disability in dysferlinopathy
Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA. Muscle Nerve. 2016. 53(1):49-57. The aim of the study was to assess, clinically and functionally, a...
Computer task performance by subjects with Duchenne muscular dystrophy
Malheiros SR, da Silva TD, Favero FM, de Abreu LC, Fregni F, Ribeiro DC, de Mello Monteiro CB. Neuropsychiatr Dis Treat. 2015. 30;12:41-8. The study aimed at verifying the quantitative performance of people with DMD in undertaking a computer task.An improved...
Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne
Desguerre I, Laugel V. Arch Pediatr. 2015. 22(12 Suppl 1):12S24-30. Duchenne myopathy is today the most frequently encountered progressive muscular dystrophy in children, with an inexorable, progressive development to death in the third decade. Improvement in survival...
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype
Servais L, Montus M, Guiner C, Ben Yaou R, Annoussamy M, Moraux A, Hogrel JY, Seferian AM, Zehrouni K, Le Moing AG, Gidaro T, Vanhulle C, Laugel V,Butoianu N, Cuisset JM, Sabouraud P, Cances C, Klein A, Leturcq F, Moullier P, Voit T. Journal of Neuromuscular Diseases....
Reliability and validity of Trunk Control Test in patients with neuromuscular diseases
Parlak Demir Y, Yildirim SA. Physiother Theory Pract. 2015. 31(1):39-44. Determination of the reliability and validity of the Trunk Control Test (TCT) in people with adult neuromuscular diseases.The TCT was found to be correlated with MFM (r=0.57).PubMed linkKeywords:...
Instruments for the evaluation of motor abilities for children with severe multiple disabilities: A systematic review of the literature
Mensch SM, Rameckers EA, Echteld MA, Evenhuis HM. Res Dev Disabil. 2015. 47:185-98. Based on a systematic review, psychometric characteristics of currently available instruments on motor abilities of children with disabilities were evaluated, with the aim to identify...
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years
Werlauff U, Petri, H, Witting N, Vissing J. Journal of Neuromuscular Diseases. 2015. 2(2):167-174. Eighty-four patients with a centronuclear myopathy (CNM) older than five years were included in the study and assessed by muscle tests, functional tests (including MFM),...
Longitudinal 2-point dixon muscle magnetic resonance imaging in becker muscular dystrophy
Bonati U, Schmid M, Hafner P, Haas T, Bieri O, Gloor M, Fischmann A, Fischer D. Muscle Nerve. 2015. 51(6):918-21. The aim of this study was to quantify the amount of fatty degeneration in the thigh and measure longitudinally the annual skeletal muscle changes in...
Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1
Lareau-Trudel E, Le Troter A, Ghattas B, Pouget J, Attarian S, Bendahan D, Salort-Campana E. PLoS One. 2015. 16;10(7):e0132717. Muscle MRI was used to assess muscular fatty infiltration in the lower limbs of 35 FSHD1 patients and 22 healthy volunteers. MFM was used...
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S,...
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy
Bonati U, Hafner P, Schädelin S, Schmid M, Naduvilekoot Devasia A, Schroeder J, Zuesli S, Pohlman U, Neuhaus C, Klein A, Sinnreich M, Haas T, Gloor M, Bieri O, Fischmann A, Fischer D. Neuromuscul Disord. 2015. 25(9):679-85. This prospective one year observational...
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L. PLoS One....
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel...
The motor function measure to study limitation of activity in children and adults with Charcot-Marie-Tooth disease
Allard L, Rode G, Jacquin-Courtois S, Pouget MC, Rippert P, Hamroun D, Poirot I, Bérard C, Vuillerot C; le groupe d’étude CMT MFM. Ann Phys Rehabil Med. 2014. 57(9-10):587-99. Study on 233 Charcot-Marie-Tooth disease patients aged 4–86 years aiming at studying the...
Reduced mandibular range of motion in Duchenne Muscular Dystrophy: predictive factors
van Bruggen HW, Van Den Engel-Hoek L, Steenks MH, Bronkhorst EM, Creugers NH, de Groot IJ, Kalaykova SI. J Oral Rehabil. 2015. 42(6):430-8. Objectives were to determine whether the mandibular range of motion in Duchenne Muscular Dystrophy (DMD) is impaired and to...
Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?
Moura MC, Wutzki HC, Voos MC, Resende MB, Reed UC, Hasue RH. Arq Neuropsiquiatr. 2015. 73(1):52-57. This study investigated in Duchenne Muscular Dystrophy possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers.Caregivers...
Decreased Gait and Function in Duchenne Muscular Dystrophy
Iwabe-Marchese C, Fávaro A, Cocato Luiz L. Open Journal of Therapy and Rehabilitation. 2014. 2:120-125. Objective of the study is to characterize the motor function and decrease gait in children with DMD using the Portuguese version of the Motor Function Measure...
Rasch Analysis of the Motor Function Measure in Patients with Congenital Muscle Dystrophy and Congenital Myopathy
Vuillerot C, Rippert P, Kinet V, Renders A, Jain M, Waite M, Glanzman AM, Girardot F, Hamroun D, Iwaz J, Ecochard R, Quijano-Roy S, Bérard C, Poirot I, Bönnemann CG; CDM MFM study group. Arch Phys Med Rehabil. 2014. 57(9-10):587-99. The main goal of the study is to...
English cross-cultural translation and validation of the NM-Score: a system for motor function classification in patients with neuromuscular diseases
Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG. Arch Phys Med Rehabil. 2014. 95(11):2064-2070.e1. Developement of an English version of...
Postural alignment in children with Duchenne muscular dystrophy and its relationship with balance
Baptista CRJA, Costa AA, Pizzato TM, Souza FB, Mattiello-Sverzut AC. Braz J Phys Ther. 2014. 18(2):119-126. Objectives were to identify and quantify postural deviations in children with DMD and to explore relationships between posture and function. Ten DMD children,...
Predictive factors for masticatory performance in Duchenne Muscular Dystrophy
Van Bruggen HW, van de Engel-Hoek L, Steenks MH, Bronkhorst E, Creugers NHJ, de Groot IJM, Kalaykova SI. Neuromuscul Disord. 2014. 24(8):684-92. Patients with Duchenne Muscular Dystrophy (DMD) report masticatory and swallowing problems. Authors investigated whether...
What Can We Learn From Assisted Bicycle Training in a Girl With Dystrophinopathy? A Case Study
Huijben J, Jansen M, Ginjaar IN, Lammens M, van Putten M, van Alfen N, de Groot I. J Child Neurol. 2015. 30(5),659-63. Case study of a 9-year-old ambulatory girl with dystrophinopathy due to a mosaic translocation mutation participated in dynamic training. The girl...
Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials
Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, Corti S. Clin Ther. 2014. 1;36(1):128-40. This article provides a general overview of the main aspects that need to be taken into account to design a more efficient clinical trial and to summarize the...
Relationship between muscle strength and motor function in Duchenne muscular dystrophy
Nunes MF, Hukuda ME, Favero FM, Oliveira AB, Voos MC, Caromano FA. Arq Neuropsiquiatr. 2016. 74(7):530-5. This study investigates the relationship between muscle strength as measured by Medical Research Council (MRC) scale and MFM and between these variables and age...
Influence of a two-year steroid treatment on body composition as measured by Dual X-Ray Absorptiometry in boys with Duchenne Muscular Dystrophy
Vuillerot C, Braillon P, Fontaine-Carbonnel S, Rippert P, André E, Iwaz J, Poirot I, Bérard C. Neuromuscul Disord. 2014. 24:467-473. Assessment of effects of long term steroid treatments on body composition, assessed by Dual X-Ray absorptiometry, in 21 patients with...
The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II.
Werlauff U, Fynbo Steffensen B. Disabil Rehabil. 2014. 36(25):2120-6. Assessment of ability of 4 clinical methods to reflect arm and hand function at impairment and activity level and to determine their ability to discriminate among SMA II patients of all ages and in...
Diaphragmatic dysfunction in Collagen VI myopathies
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B. Neuromuscul Disord. 2014. 24(2):125-33. A pilot study aimed at characterizing the respiratory muscle phenotype in...