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Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Reyngoudt H, Marty B, Boisserie JM, et al.
European radiology, 2020
Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al
Dangouloff T, Boemer F, Caberg JH, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Koch C, Buono S, Menuet A, et al.
Molecular therapy. Methods & clinical development, 2020, 17, p 1178
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Frank DE, Schnell FJ, Akana C, et al.
Neurology, 2020, 94, 21, e2270
Spinal muscular atrophy care in the COVID-19 pandemic era
Veerapandiyan A, Connolly AM, Finkel RS, et al.
Muscle & Nerve, 2020
Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy
Servais L, Kirschner J, Muntoni F
Neuromuscular disorders : NMD, 2020, 30, 4, p 267
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Hogrel JY, Decostre V, Ledoux I, et al.
Journal of neurology, 2020
New treatments in spinal muscular atrophy: an overview of currently available data
Ramdas S, Servais L
Expert opinion on pharmacotherapy, 2020, 21, 3, p 307
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
Finkel RS, Day JW, de Vivo DC, et al.
Journal of Neuromuscular Diseases, 2020
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Kirschner J, Butoianu N, Goemans N, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020
Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
Gidaro T, Reyngoudt H, Le Louër J, et al.
Journal of neurology, 2020, 267, 1, p 228
Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance
Duong T, Harding G, Mannix S, et al.
Journal of Neuromuscular Diseases, 2020
Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
Dangouloff T, Boemer F, Dideberg V, et al.
Neurology, 2020, 95, 3, p 144
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus SB, Wallgren-Pettersson C, BÃ nnemann CG, et al.
Neuromuscular disorders : NMD, 2020
Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and (31)P nuclear magnetic resonance spectroscopy
Reyngoudt H, Marty B, Caldas de Almeida Araujo E, et al.
Quantitative imaging in medicine and surgery, 2020, 10, 7, p 1450
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy
Sanson M, Vu Hong A, Massouridès E, et al.
Scientific Reports, 2020, 10, 1, p 9139
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon-Gawinska K, Daron A, Ulinici A, et al.
Developmental medicine and child neurology, 2019
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Dangouloff T, Burghes A, Tizzano EF, et al.
Neuromuscular disorders : NMD, 2019
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
Servais L, Straathof CSM, Schara U, et al.
Neuromuscular disorders : NMD, 2019
Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
Dangouloff T, Servais L
Therapeutics and clinical risk management, 2019, 15, p 1153
[(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy]
Boemer F, Caberg JH, Dideberg V, et al.
Revue médicale de Liège, 2019, 74, 9, p 461
Home-Based Monitor for Gait and Activity Analysis
Lilien C, Gasnier E, Gidaro T, et al.
Journal of visualized experiments : JoVE, 2019, n 150
Newborn screening for SMA in Southern Belgium
Boemer F, Caberg JH, Dideberg V, et al.
Neuromuscular disorders : NMD, 2019, 29, 5, p 343
