Publications
Articles in scientific journals
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
E. Mazzone, R. De Sanctis, L. Fanelli, F. Bianco, M. Main, M. van den Hauwe, M. Ash, R. de Vries, J. Fagoaga Mata, K. Schaefer, A. D’Amico, G. Colia, C. Palermo, M. Scoto, A. Mayhew, M. Eagle, L. Servais, M. Vigo, A. Febrer, R. Korinthenberg, M. Jeukens M. de Viesser,...
Création et validation d’une classification en grade de sévérité dans les maladies neuromusculaires : la classification NM-Score
Vuillerot C, Rippert P, Roche S, Bérard C, Margirier F, de Lattre C, Poirot I, Berruyer A, Tiffreau V, Fournier-Mehouas M, Bouhour F, Urtizberea JA, Renders A, Ecochard R; Le groupe d’étude NM-Score. Ann Phys Rehabil Med. 2013. 56(9-10):673-86. Development of a...
Rasch analysis of clinical outcome measures in spinal muscular atrophy
SJ. Cano, A. Mayhew, AM. Glanzman, KJ. Krosschell, KJ. Swoboda, M. Main, BF. Steffensen, C. Bérard, F. Girardot, CA. Payan, E. Mercuri, E. Mazzone, B. Elsheikh, J. Florence, LS. Hynan, ST. Iannaccone , LL. Nelson, S. Pandya, M. Rose, C. Scott, R. Sadjadi, MA. Yore, C....
Gait energy expenditure in children with Duchenne muscular dystrophy: case study
de Souza MA, Ferreira ME, Rogean de Jesus Alves de Baptista C, Mattiello Sverzut AC. Fisioter Pesq. 2014. 21(2):193-198. Energy expenditure of 3 children (6, 7 and 8 years old) with MFM scores between 61.5 and 71.7% was calculated using gait heart rate (HR).Results...
Physiotherapy Intervention in Nemaline Myopathy – Case Report
Furlaneto B, Valenciano P, Zechim F, Alves E. Revista Neurociências. 2014. 22(1):59-65. This report provides an understanding of the clinical evolution and prognosis of a Nemaline Myopathy (NM) patient compared with the literature.Physiotherapeutic interventions were...
Activity rating scales in adult muscle disease: how well do they actually measure?
Seedat F, James MK, Rose MR. Muscle Nerve. 2014. 50(1):24-33. Systematic review to assess the quality of 19 activity rating scales, including the MFM, designed specifically for muscle disease.PubMed linkKeywords: Functional rating scales, Muscle disease, Outcome...
Activity rating scales in adult muscle disease: what do they actually measure?
Seedat F, James MK, Rose MR. Muscle Nerve. 2014. 50(1):14-23. Literature review of activity rating scales used for muscle disease and assessed their content by linking scale items to the International Classification of Functioning, Disability and Health (ICF) and the...
The Use of Functional Scales for Clinical Evaluation of Duchenne Muscular Dystrophy
Barra TMF, Baraldi KF Revista Neurociências. 2013. 21(3):420-426. Literature review of scientific articles, books and dissertations published from 2000 to 2011, in Portuguese, English and Spanish languages to demonstrate the applicability of using Vignos scales, Egen...
Assisted bicycle training delays functional deterioration in boys with duchenne muscular dystrophy: the randomized controlled trial “no use is disuse”.
Jansen M, van Alfen N, Geurts AC, de Groot IJ. Neurorehabil Neural Repair. 2013. 27(9):816-27. Thirty boys (18 ambulant and 12 wheelchair-dependent) with a DMD were physically trained using an assisted bicycle. After 24 weeks, the total MFM score remained stable in...
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.
Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Desguerre I, Maincent K, Themar-Noel C, Quijano-Roy S, Serari N, Voit T, Hogrel JY. Neuromuscul Disord. 2013. 23(2) : 139-48. Development of new tools to precisely...
Motor Function Measure: validation of a short form (MFM-20) for young children with neuromuscular diseases
Capucine de Lattre, Christine Payan, Carole Vuillerot, Pascal Rippert, Denis de Castro, Carole Bérard, Isabelle Poirot and the MFM-20 Study Group. Arch Phys Med Rehabil. 2013. 94 : 2218-26. Validation of MFM version useful in neuromuscular children under 7 years old,...
Responsiveness of the Motor Function Measure in Patients With Spinal Muscular Atrophy.
Vuillerot C, Payan C, Iwaz J, Ecochard R, Bérard C and the MFM Spinal Muscular Atrophy Study Group. Arch Phys Med Rehabil. 2013. 94(8) : 1555-61. Assessment in 112 patients with Spinal Muscular Atrophy (SMA) aged 5.7 to 59 years of the ability of the MFM to detect...
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy.
Fischmann A, Hafner P, Gloor M, Schmid M, Klein A, Pohlman U, Waltz T, Gonzalez R, Haas T, Bieri O, Fischer D. J Neurol. 2013. 260(4):969-74. The purpose of this trial was to correlate quantitative MRI with functional abilities, evaluate using MFM in 22 ambulant or...
Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment
van den Engel-Hoek L, Erasmus CE, Hendriks JC, Geurts AC, Klein WM, Pillen S, Sie LT, de Swart BJ, de Groot IJ. J Neurol. 2013. 260(5):1295-303. Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). Authors aimed to describe the dysphagia in...
Responsiveness of the Motor Function Measure in Neuromuscular Diseases
Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C, Ecochard R, and the MFM Study Group.Arch Phys Med Rehabil 2012. 93(12):2551-2556. Study of the responsiveness of the MFM in 152 neuromuscular disease patients.MFM showed a good responsiveness, especially...
The role of physical therapy in the preservation of motor skills in Becker’s muscular dystrophy–a case study
Codrea TA, Pop NH. Palestrica of the Third Millennium - Civilization and Sport. 13(3):272-275. A physical therapy protocol was applied to a 19 years old Becker’s muscular dystrophy patients. Motor skills were evaluated using the MFM. The long term objectives of the...
Motor assessment in patients with Duchenne muscular dystrophy
Diniz GP, Lasmar LM, Giannetti JG. Arq Neuropsiquiatr. 2012. 70(6): 416-21. This study of 20 DMD patients shows the sensitivity of the MFM with six months between two applications. PubMed link Keywords: Duchenne muscular dystrophy, MFM, Medical research concil ...
Evaluation of muscle oxygenation by near-infrared spectroscopy in patients with Becker muscular dystrophy
Allart E, Olivier N, Hovart H, Thevenon A, Tiffreau V. Neuromuscul Disord. 2012. 22(8): 720-7. The primary objective of the study was to describe and compare muscle oxygenation patterns during constant-load exercise in patients with Becker Muscular Dystrophy (BMD) and...
Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients.
D'Angelo MG, Gandossini S, Martinelli Boneschi F, Sciorati C, Bonato S, Brighina E, Comi GP, Turconi AC, Magri F, Stefanoni G, Brunelli S, Bresolin N, Cattaneo D, Clementi E. Pharmacol Res. 2012. 65(4): 472-9. The main of this monocentric pilot study was to evaluate...
Gait Assessment in Children With Duchenne Muscular Dystrophy During Long-Distance Walking
Ganea R, Jeannet PY, Paraschiv-Ionescu A, Goemans N, Piot C, Van den Hauwe M, Aminian K. J Child Neurol. 2012. 27: 1 30-38. Gait patterns of 25 children with Duchenne muscular dystrophy were compared to that of healthy children. Authors showed that Duchenne muscular...
Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy.
Silva EC, Machado DL, Resende MB, Silva RF, Zanoteli E, Reed UC. Arq Neuropsiquiatr. 2012. 70(3): 191-5. Description of the evolution of the motor function of 33 DMD patients (27 ambulant and 6 non ambulant at inclusion) treated with steroids during 18 month assessed...
Quantitative MRI can detect subclinical disease progression in muscular dystrophy.
Fischmann A, Hafner P, Fasler S, Gloor M, Bieri O, Studler U, Fischer D. J Neurol. 2012. 259(8): 1648-54. The aim of this study was to compare different methods of quantitative and semiquantitative MRI in order to validate clinical parameters for the follow-u of...
The assisted 6-minute cycling test to assess endurance in children with a neuromuscular disorder.
Jansen M, De Jong M, Coes HM, Eggermont F, Van Alfen N, De Groot IJ. Muscle Nerve. 2012. 46(4): 520-3. Development of the "assisted 6-minute cycling" aiming to assess DMD patients' endurance.MFM is use as a gold standard.PubMed linkKeywords: Assisted 6-minute cycling...
Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy
Fischmann A, Gloor M, Fasler S, Haas T, Rodoni Wetzel R, Bieri O, Wetzel S, Heinimann K, Scheffler K, Fischer D. J Neurol 2011. 258: 1333–1340. Oculopharyngeal muscular dystrophy (OPMD) is a progressive skeletal muscle dystrophy characterized by ptosis, dysphagia, and...
Impaired Mandibular Function in Spinal Muscular Atrophy Type II: Need for Early Recognition
van Bruggen HW, van den Engel-Hoek L, van der Pol WL, de Wijer A, de Groot IJ, Steenks MH. J Child Neurol. Nov 2011. 26: 1392 - 1396. The aim of the study is to assess mandibular function in young patients with spinal muscular atrophy type II. The mandibular function...
Idebenone for the treatment of Duchenne muscular dystrophy (Protocol)
Geng J, Dong J, Jiang K, Shen L, Wu T, Ni H, Shi LL, Wang G, Wu H. The Cochrane Library 2011. Description of a protocol aiming at assessing efficacy of ibedenone on muscle strength, muscle function, lung function, cardiac function and quality of life for patients with...
High-frequency, low-intensity vibrations increase bone mass and muscle strength in upper limbs, improving autonomy in disabled children
Reyes ML, Hernandez M, Holmgren LJ, Sanhueza E, Escobar RG. J Bone Miner Res, 2011. 26(8): 1759-66. The main objective of this study was to evaluate the efficacy and safety of high-frequency, low-magnitude vibration, in patients with disabilities. 55 children were a...
Motor Function Measure Scale (MFM): New Instrument for Follow-Up Brazilian Patients with Neuromuscular Disease
Iwabe C, Nucci A, Pfeilsticker BHM, Magna LA. Muscular Dystrophy ed.Croacia : Intech. 2012. 303-320. Book chapter presenting the validation and applicability of the MFM Portuguese version.Link Articles dans les revues scientifiques
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D. Neuromuscul Disord. 2011. 21(7):477-82. This open-label prospective exploratory study investigated the effect of 12 months of recombinant enzyme replacement therapy...
Upper limb function in adults with Duchenne muscular dystrophy
Bartels G, Pangalila RF, Bergen MP, Cobben NAM, Stam HJ, Roebroeck ME. J Rehabil Med 2011. 43(9) : 770-5. This study illustrates a large variability in upper limb function in adult patients with Duchenne muscular dystrophy, and identifies muscle strength and range of...