Publications
Articles in scientific journals
Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale?
Guillot T, Roche S, Rippert P, Hamroun D, Iwaz J, Ecochard R, Vuillerot C; the MFM Study Group. Arch Phys Med Rehabil. 2018. 99(9), 1776-1782.e9. Comparison of the fit quality of the confirmatory factor analysis (CFA) and the Rasch models on MFM item scores in...
read moreFunctional outcome measures for infantile Charcot-Marie-Tooth disease: a systematic review
Mandarakas MR, Rose KJ, Sanmaneechai O, Menezes MP, Refshauge KM, Burns JJ Peripher Nerv Syst. 2018. 23(2), 99-107. Systematic review of the outcome measures that can be used in children with Charcot-Marie-Tooth (CMT) aged 0 to 3 years.Properties of MFM-20 in this...
read moreTimed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Schroeder J, Naduvilekoot Devasia A, Zuesli S, Bernert G, Laugel V, Bloetzer C, Steinlin M, Capone A, Gloor M, Tobler P, Haas T, Bieri O, Zumbrunn T, Fischer D, Bonati U Neuromuscul Disord. 2018....
read moreCorticosteroids in Duchenne muscular dystrophy: impact on the motor function measure sensitivity to change and implications for clinical trials
Schreiber A, Brochard S, Rippert P, Fontaine-Carbonnel S, Payan C, Poirot I, Hamroun D, Vuillerot C Dev Med Child Neurol. 2018. 60(2):185-191. The aim of the study was to monitor the evolution of the motor function of ambulatory patients with Duchenne muscular...
read moreElectrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ Muscle Nerve. 2018. 57(1):54-60. The main objective of the...
read moreTurkish version of the Motor Function Measure Scale (MFM-32) forneuromuscular diseases: a cross-cultural adaptation, reliability, and validity study
Inal HS, Tarakçi E, Tarakçi D, Aksoy G, Mergen Kiliç S, Beser H, Beser Ç, Özdinçler AR, Durmus Tekçe H, Parman FY, Deymeer F, Oflazer ZP Turk J Med Sci. 2017. 19;47(6):1826-1833. Study aiming to analyze the reliability and validity of a translation and cultural...
read moreLong term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY Mol Genet Metab. 2017. 122(3):108-116. Preliminary results of a longitudinal study assessing in patients with...
read moreAdding quantitative muscle MRI to the FSHD clinical trial toolbox
Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM Neurology. 2017. 14;89(20):2057-2065. Assessment from a cohort of 140 patients with facioscapulohumeral muscular dystrophy (FSHD) of...
read moreSafety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators Lancet Neurol....
read moreImprovements in motor tasks through the use of smartphone technology for individuals with Duchenne muscular dystrophy
Capelini CM, da Silva TD, Tonks J, Watson S, Alvarez MPB, de Menezes LDC, Favero FM, Caromano FA, Massetti T, de Mello Monteiro CB Neuropsychiatr Dis Treat. 2017. 18(13):2209-2217. The main aim of the study was to verify whether individuals with Duchenne muscular...
read moreLong-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study
Fatehi F, Salort-Campana E, Le Troter A, Lareau-Trudel E, Bydder M, Fouré A, Guye M, Bendahan D, Attarian S PLoS One. 2017 Aug 25;12(8):e0183825. The main aim of the study was to investigate longitudinally the time-dependent changes occurring in thigh muscles of...
read morePatients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks
Artilheiro MC, Sá CSC, Fávero FM, Caromano FA, Voos MC. Braz J Med Biol Res. 2017. 50(8): e6031. This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs in patients with Duchenne and Becker...
read moreReliability and validity analyses of the North Star Ambulatory Assessment in Brazilian Portuguese
Okama LO, Zampieri LM, Ramos CL, Toledo FO, Alves CRJ, Mattiello-Sverzut AC, Mayhew A, Sobreira CFR Neuromuscul Disord. 2017. 27(8):723-729. Validation study of the cross-cultural adaptation to the Portuguese of the North Star Ambulatory Assessment.A positive...
read moreHyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
Kölbel H, Hauffa BP, Wudy SA, Bouikidis A, Della Marina A, Schara U PLoS One. 2017. 9;12(3):e0173144. Study of prevalence of hyperleptinemia in a spinal muscular atrophy (SMA) population.Hyperleptinemia is highly prevalent in underweight children with SMA and is...
read moreShort-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients
Doix AM, Roeleveld K, Garcia J, Lahaut P, Tanant V, Fournier-Mehouas M, Desnuelle C, Colson SS, Sacconi S Am J Phys Med Rehabil. 2017. 96(4):e56-e63. Prospective study including 10 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) and 10 healthy...
read moreUpper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG,...
read moreReliability of home-based, motor function measure in hereditary neuromuscular diseases
Ruiz-Cortes X, Ortiz-Corredor F, Mendoza-Pulido C J Int Med Res. 2017. 45(1):261-271. The goal of the study was to compare the reliability of the MFM scale in the assessment of patients when administered at home and clinic. Results demonstrated excellent inter-rater...
read moreTreatment with L-citrulline in patients with post-polio syndrome: study protocol for a single-center, randomised, placebo-controlled, double-blind trial
Schmidt S, Gocheva V, Zumbrunn T, Rubino-Nacht D, Bonati U, Fischer D, Hafner P Trials. 2017. 9;18(1):116. Protocol of a randomized, double-blind, placebo-controlled trial aiming to demonstrate determine if treatment with L-citrulline shows a positive effect on...
read morePostrehabilitation Functional Improvements in Patients With Inflammatory Myopathies: The Results of a Randomized Controlled Trial
Tiffreau V, Rannou F, Kopciuch F, Hachulla E, Mouthon L, Thoumie P, Sibilia J, Drumez E, Thevenon A Arch Phys Med Rehabil. 2017. 98(2):227-234. Multicenter randomized controlled trial, aiming to evaluate the medium-term functional effect and the effect on quality of...
read moreCross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
Decostre V, Laforêt P, Nadaj-Pakleza A, De Antonio M, Leveugle S, Ollivier G, Canal A, Kachetel K, Petit F, Eymard B, Behin A, Wahbi K, Labrune P, Hogrel JY Neuromuscul Disord. 2016. 26(9):584-92. This study aimed to identify promising muscle function measures for...
read moreFacioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. BMC Neurol. 2016. 17;16:138. Protocol of a population-based prospective cohort study on...
read moreMuscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function
Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group. PLoS One. 2016. 6;11(10):e0163493L'objectif de l'étude est d'étudiée l'utilisation de l'IRM...
read moreThe 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study
Fischer D, Hafner P, Rubino D, Schmid M, Neuhaus C, Jung H, Bieri O, Haas T, Gloor M, Fischmann A, Bonati U Neuromuscul Disord. 2016. 26(7):414-22Etude de la corrélation entre des scores fonctionnels validés, dont la MFM, des tests chronométrés, dont le teste de...
read moreTherapy Taping Method: Therapeutic approach in two children with Duchenne Muscular Dystrophy
Iwabe-Marchese C, Morini NJr. Br J Med Med Res. 2016. 15(3): 1-7.L'objectif de l'étude était d'évaluer l'effet d'un bandage élastique en utilisant le "Therapy Taping Method" chez 2 enfants atteints de DMD. L'échelle Mesure de la Fonction Motrice-20 (MFM-20) a été...
read moreNatural 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):248-65Etude d'observation des manifestations cliniques et de la progression de...
read moreBroadening 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.L'étude visait à décrire l'utilisation de l'IRM dans la dysferlinopathie et d'étudier les corrélations entre les résultats de l'IRM des mesures...
read moreMyotonic 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.L'objectif de l'étude était d'évaluer la fréquence de troubles ophtalmologiques de patients atteints de dystrophie myotonique de type 1 et d'étudier la corrélation de...
read moreToward 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 JAMuscle Nerve. 2016. 53(1):49-57.L'objectif de l'étude était d'évaluer, cliniquement et...
read moreComputer 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.L'objectif de l'étude est d'analyser la performance quantitative de patients atteints de DMD à entreprendre une tâche...
read moreDiagnostic et histoire naturelle de la dystrophie musculaire de Duchenne
Desguerre I, Laugel V.Arch Pediatr. 2015. 22(12 Suppl 1):12S24-30. La myopathie de Duchenne est à ce jour la dystrophie musculaire progressive la plus fréquente chez l'enfant avec une évolution inexorable, progressive conduisant au décès dans la troisième décennie....
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