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Immune checkpoint inhibitors for progressive multifocal leukoencephalopathy: a new gold standard?

Journal of neurology, 2021-07, Vol.268 (7), p.2458-2465

2021

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Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

Molecular therapy, 2014-01, Vol.22 (1), p.219-225

2014

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Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

International journal of molecular sciences, 2023-11, Vol.24 (22), p.16217

2023

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054

2023

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Th1 response and systemic treg deficiency in inclusion body myositis

PloS one, 2014-03, Vol.9 (3), p.e88788-e88788

2014

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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.211-211, Article 211

2018

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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Journal of medical case reports, 2022-03, Vol.16 (1), p.134-134, Article 134

2022

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Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

The American heart journal, 2007-09, Vol.154 (3), p.596-602

2007

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Mutations in dynamin 2 cause dominant centronuclear myopathy

Nature genetics, 2005-11, Vol.37 (11), p.1207-1209

2005

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An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

Nature (London), 2007-08, Vol.448 (7156), p.934-937

2007

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Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

Journal of Neuromuscular Diseases, 2018-02, Vol.5 (1), p.1-10

2018

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242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Neuromuscular disorders : NMD, 2020-03, Vol.30 (3), p.254-264

2020

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Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Stem cell research, 2020-12, Vol.49, p.102106-102106, Article 102106

2020

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215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.535-547

2016

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Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

Developmental medicine and child neurology, 2012-10, Vol.54 (10), p.905-911

2012

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Genotype and other determinants of respiratory function in myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.222-228

2018

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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Journal of Neuromuscular Diseases, 2017, Vol.4 (4), p.269-284

2017

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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

PloS one, 2013-01, Vol.8 (1), p.e53826-e53826

2013

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Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Journal of neuromuscular diseases, 2018, Vol.5 (2), p.241-249

2018

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Natural history of LGMD2A for delineating outcome measures in clinical trials

Annals of clinical and translational neurology, 2016-04, Vol.3 (4), p.248-265

2016

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Syndromes myasthéniques congénitaux: Le repositionnement ne simplifie pas de facto l’accès: Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (4)

M.S. Médecine sciences, 2019-03, Vol.35, p.28-31

Eymard, Bruno

2019

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Permanent muscle weakness in MCArdle disease

Muscle & nerve, 2009-09, Vol.40 (3), p.350-357

2009

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Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)

M.S. Médecine sciences, 2019-03, Vol.35 Hors série n° 1, p.28

Eymard, Bruno

2019

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Diagnostic and clinical classification of autoimmune myasthenia gravis

Journal of autoimmunity, 2014-02, Vol.48, p.143-148

2014

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Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1

Annals of clinical and translational neurology, 2017-12, Vol.4 (12), p.921-925

2017

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Immune checkpoint inhibitors for progressive multifocal leukoencephalopathy: a new gold standard?

Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Th1 response and systemic treg deficiency in inclusion body myositis

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

Mutations in dynamin 2 cause dominant centronuclear myopathy

An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

Genotype and other determinants of respiratory function in myotonic dystrophy type 1

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Natural history of LGMD2A for delineating outcome measures in clinical trials

Syndromes myasthéniques congénitaux: Le repositionnement ne simplifie pas de facto l’accès: Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (4)

Permanent muscle weakness in MCArdle disease

Congenital myasthenic syndromes: repurposing does not simplify access de facto - Clinical use of innovative, repurposed or off-label therapies: a real life experience (4)

Diagnostic and clinical classification of autoimmune myasthenia gravis

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1

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