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Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
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
Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy
Previtali SC, Gidaro T, Diaz-Manera J, et al.
Pharmacological Research, 2020, 104999
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
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
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
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
Home-Based Monitor for Gait and Activity Analysis
Lilien C, Gasnier E, Gidaro T, et al.
Journal of visualized experiments : JoVE, 2019, n 150
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, et al.
Neurology, 2019, 92, 16
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps
Gidaro T, Gidaro T, Servais L
Developmental medicine and child neurology, 2019, 61, 1, p 19
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, et al.
Neurology, 2018, e1312
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, et al.
PLoS ONE, 2018, e0201004
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype
Anghelescu C, Francou B, Cardas R, et al.
European journal of neurology, 2017, 24, 3, p e15
Improved Muscular Weakness During Asthma Exacerbation
Delstanche S, Servais L, Gidaro T
JAMA Neurology, 2017, 74, 3, p 353
DMD and West syndrome
Cardas R, Iliescu C, Butoianu N, et al.
Neuromuscular disorders : NMD, 2017, 27, 10, p 911
First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1
Gargaun E, Aragon-Gawinska K, Seferian A, et al.
Neuromuscular disorders : NMD, 2017, 27, s2, S211
Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study
Aragon-Gawinska K, Gargaun E, Seferian A, et al.
Neuromuscular disorders : NMD, 2017, 27, s2, s211
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
Gargaun E, Seferian AM, Cardas R, et al.
Journal of neurology, 2016, 263, 7, p 1456
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy
Hogrel JY, Wary C, Moraux A, et al.
Neurology, 2016, 86, 11, p 1022
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Seferian AM, Malfatti E, Bosson C, et al.
Neuromuscular disorders : NMD, 2016, 26, 10, p 712
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1
Bachasson D, Moraux A, Ollivier G, et al.
Neuromuscular disorders : NMD, 2016, 26, 7, p 428
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing
Klein P, Oloko M, Roth F, et al.
Nucleic acids research, 2016, 44, 22, p 10929
Mitochondrial Dysfunction reveals the role of mRNA Poly(A) tail regulation in Oculopharyngeal muscular dystrophy pathogenesis
Chartier A, Klein P, Pierson S, et al.
PLoS Genetics, 2015, 1005092, p. 1-27
PABPN1 (GCN)11 as a dominant allele in Oculopharyngeal Muscular Dystrophy - Consequences in clinical diagnosis and genetic counselling
Richard P, Trollet C, Gidaro T, et al.
Journal of Neuromuscular Diseases, 2015, 2, 2, p 175
