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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Neuropathology and applied neurobiology, 2020-10, Vol.46 (6), p.564-578

2020

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Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

British journal of dermatology (1951), 2019-10, Vol.181 (4), p.862-864

2019

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Immunoglobulin shortage: Practice modifications and clinical outcomes in a reference centre

Revue neurologique, 2022-06, Vol.178 (6), p.616-623

2022

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Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2020-12, Vol.27 (7), p.7S23-7S28

2020

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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

Revue neurologique, 2020-06, Vol.176 (6), p.507-515

2020

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Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Revue neurologique, 2012-12, Vol.168 (12), p.910-918

2012

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Epidemiology of myasthenia gravis in France: A retrospective claims database study (STAMINA)

Revue neurologique, 2024-03, Vol.180 (3), p.202-210

2024

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Guillain–Barré syndrome subtypes: A clinical electrophysiological study of 100 patients

Revue neurologique, 2019-01, Vol.175 (1-2), p.73-80

2019

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Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach

Revue neurologique, 2016-10, Vol.172 (10), p.566-571

2016

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Should we prevent thrombosis related to intravenous immunoglobulin infusions with systematic anticoagulant prophylaxis?

Revue neurologique, 2021-01, Vol.177 (1-2), p.100-106

2021

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AB0945 An Atlas Based Automatic Segmentation of The Human Thigh Muscles: A Promising Approach for Muscle Volume Quantification in Longitudinal Studies

Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.1224-1224

2016

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Should SDMT substitute for PASAT in MSFC? A 5-year longitudinal study

Multiple sclerosis, 2008-11, Vol.14 (9), p.1242-1249

2008

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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S5-S6

2018

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The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Revue neurologique, 2013-08, Vol.169 (8-9), p.595-602

2013

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T.P.15

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.868-869

2014

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The impact of enzyme replacement therapy on the progression of Pompe disease

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S189-S189

2015

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Myofibrillar myopathies: State of the art, present and future challenges

Revue neurologique, 2015-10, Vol.171 (10), p.715-729

2015

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GNE myopathy: Characteristics of affected patients diagnosed in mainland France

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S169-S169

2016

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A randomized, double-blinded, placebo-controlled, multiple ascending dose study to evaluate the safety, tolerability, pharmacokinetics, immunogenicity, and biological activity of ATYR1940 in adult patients with facioscapulohumeral muscular dystrophy (FSHD)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S167-S167

2016

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T.P.17

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.869-869

2014

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Necrotizing myopathies: From genetic to acquired forms

La revue de medecine interne, 2014-07, Vol.35 (7), p.430

2014

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G.P.12

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.797-798

2014

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Myopathies nécrosantes : des formes héréditaires aux formes acquises

La revue de medecine interne, 2014-07, Vol.35 (7), p.430-436

2014

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P131 Une forme bien particulière de lipodystrophie : quand le VIH et la génétique s’en mêlent

Diabetes & metabolism, 2012-03, Vol.38, p.A62-A62

2012

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Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012

Revue neurologique, 2013-08, Vol.169 (8-9), p.573-582

2013

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Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

Immunoglobulin shortage: Practice modifications and clinical outcomes in a reference centre

Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Epidemiology of myasthenia gravis in France: A retrospective claims database study (STAMINA)

Guillain–Barré syndrome subtypes: A clinical electrophysiological study of 100 patients

Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach

Should we prevent thrombosis related to intravenous immunoglobulin infusions with systematic anticoagulant prophylaxis?

AB0945 An Atlas Based Automatic Segmentation of The Human Thigh Muscles: A Promising Approach for Muscle Volume Quantification in Longitudinal Studies

Should SDMT substitute for PASAT in MSFC? A 5-year longitudinal study

Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

T.P.15

The impact of enzyme replacement therapy on the progression of Pompe disease

Myofibrillar myopathies: State of the art, present and future challenges

GNE myopathy: Characteristics of affected patients diagnosed in mainland France

A randomized, double-blinded, placebo-controlled, multiple ascending dose study to evaluate the safety, tolerability, pharmacokinetics, immunogenicity, and biological activity of ATYR1940 in adult patients with facioscapulohumeral muscular dystrophy (FSHD)

T.P.17

Necrotizing myopathies: From genetic to acquired forms

G.P.12

Myopathies nécrosantes : des formes héréditaires aux formes acquises

P131 Une forme bien particulière de lipodystrophie : quand le VIH et la génétique s’en mêlent

Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012

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