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From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies
Hou C, Durrleman C, Periou B, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gomez-Garcia de la Banda M, Amaddeo A, Khirani S, et al.
Pediatric pulmonology, 2020
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic F, De la Banda MGG, Bernoux D, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 148
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
Hully M, Barnerias C, Chabalier D, et al.
Frontiers in pediatrics, 2020, 8, 4
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
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
Mercuri E, Muntoni F, Osorio AN, et al.
Journal of comparative effectiveness research, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Barcia G, Khirani S, Amaddeo A, et al.
Neuromuscular disorders : NMD, 2020, 30, 7, p 593
Questions-Réponses sur Coronavirus COVID-19 et maladies neuromusculaires
Brissac M, Bled D, Duval F, et al.
2020, 8 p
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network
Solé G, Salort-Campana E, Pereon Y, et al.
Revue neurologique, 2020, 176, 6, p 507
Inhibition of IFNalpha secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology
Gitiaux C, Bondet V, Bekaddour N, et al.
Rheumatology (Oxford, England), 2019
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
Muntoni F, Desguerre I, Guglieri M, et al.
Journal of comparative effectiveness research, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?
Ropars J, Barnerias C, Hully M, et al.
Neuromuscular disorders : NMD, 2019
Thérapies innovantes et organisation des structures de soins
Desguerre I, Perreau-Saussine M, Annane D, et al.
médecine/sciences, 2019, 35, HS1, p 51
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue E, Dogan C, De Antonio M, et al.
Neurology, 2019, 92, 8, p 852
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
Viguier A, Viguier A, Lauwers-Cances V, et al.
Neuromuscular disorders : NMD, 2019, 29, 2, p 114
Phénotypes cognitifs dans la dystrophie musculaire de Duchenne : revue de la littérature et perspectives (neuro) développementales
Mennetrey C, Jambaque I, Desguerre I
Canadian Psychology/Psychologie canadienne, 2019
Clinical features and evolution of juvenile myasthenia gravis in a French cohort
Barraud C, Desguerre I, Barnerias C, et al.
Muscle & Nerve, 2018, 57, 4, p 603
Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial
Fauroux B, Fauroux B, Amaddeo A, et al.
Neuromuscular disorders : NMD, 2018, 28, 9, p 731
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis
Aouizerate J, De Antonio M, Bader-Meunier B, et al.
Rheumatology (Oxford, England), 2018, 57, 5, p 873
Sleep in infants with congenital myasthenic syndromes
Caggiano S, Khirani S, Verrillo E, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017, 21, 6, p 842
Diaphragmatic dysfunction in SEPN1-related myopathy
Caggiano S, Khirani S, Dabaj I, et al.
Neuromuscular disorders : NMD, 2017, 27, 8, p 747
