Publications
Articles in scientific journals
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T. Eur J Paediatr Neurol 2018. 22(6),1103-1109. Progression of Pompe disease was evaluated in 8 young patients. From the results of the study, the authors...
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)
Stam M, Wadman RI, Wijngaarde CA, Bartels B, Asselman FL, Otto LAM, Goedee HS, Habets LE, de Groot JF, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. BMJ Open. 2018. 30;8(7):e019932. Protocol of the "SPACE" in wich MFM is used as an outcome measure....
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Chabanon A, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study...
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy
Jacqmin P, Gieschke R, Delor I, Snoeck E, Vianna E, Vuillerot C, Sanwald Ducray P.Muscle Nerve. 2018. 58(4):528-535. Presentation of a mathematical model that empirically describes the development and deterioration of muscle function assessed by the 3 domains of MFM...
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...
Functional 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...
Timed 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....
Corticosteroids 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...
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study
Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I, Díaz-Manera J ; Spanish Pompe group.Sci Rep. 2018. 18;8(1):10898. In this study, 32 Late onset Pompe disease patients...
Turkish 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...
Long 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...
Adding 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...
Safety 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....
Improvements 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...
Long-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...
Patients 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...
Reliability 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...
Hyperleptinemia 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...
Short-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...
Electrical 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...
Upper 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,...
Reliability 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...
Longitudinal Functional and NMR Assessment of Upper Limbs in Duchenne Muscular Dystrophy
Hogrel JY, Wary C, Moraux A, Azzabou N, Decostre V, Ollivier G, Canal A, Lilien C, Ledoux I, Annoussamy M, Reguiba N, Gidaro T, Le Moing AG, Cardas R, Voit T, Carlier PG, Servais L. Neurology. 2016. 15;86(11):1022-30. Twenty-five 53-skippable patients with DMD were...
Treatment 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...
Postrehabilitation 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...
Cross-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...
Facioscapulohumeral 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...
Muscle 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):e0163493. The main objective of the study was to assess the use of muscle...
The 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):414-22. This study investigated the relation between validated functional scores, such as MFM, timed function tests, such as...
Therapy 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. The aim of the study is to assess the effect of elastic bandage through the Therapy Taping Method in two children with DMD. The Motor Function Measure-20 scale (MFM-20) was used as an outcome...