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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

American journal of human genetics, 2013-02, Vol.92 (2), p.271-278

2013

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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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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3160-3170

2014

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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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Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

American journal of human genetics, 2002-10, Vol.71 (4), p.739-749

2002

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Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Journal of neuropathology and experimental neurology, 2013-09, Vol.72 (9), p.833-845

2013

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Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Acta neuropathologica communications, 2019-08, Vol.7 (1), p.138-138, Article 138

2019

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Nature genetics, 1999-03, Vol.21 (3), p.285-288

1999

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MUSK, a new target for mutations causing congenital myasthenic syndrome

Human molecular genetics, 2004-12, Vol.13 (24), p.3229-3240

2004

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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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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Nature genetics, 1998-09, Vol.20 (1), p.31-36

1998

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Jules et Augusta Dejerine : biographies croisées

Revue neurologique, 2017-02, Vol.173, p.S1-S2

Fardeau, Michel

2017

Volltextzugriff (PDF)

Jules and Augusta Dejerine: Crossing biographies

Revue neurologique, 2017-02, Vol.173, p.S2-S3

Fardeau, Michel

2017

Volltextzugriff (PDF)

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

Acta neuropathologica, 2009-03, Vol.117 (3), p.293-307

2009

Volltextzugriff (PDF)

Neuromuscular disease: muscle

Current opinion in neurology, 2013-10, Vol.26 (5), p.516-518

Fardeau, Michel

2013

Volltextzugriff (PDF)

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Human gene therapy, 2004-11, Vol.15 (11), p.1065-1076

2004

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Nature genetics, 1998-02, Vol.18 (2), p.164-167

1998

Volltextzugriff (PDF)

Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Nature genetics, 1995-10, Vol.11 (2), p.216-218

1995

Volltextzugriff (PDF)

Extensive morphological and immunohistochemical characterization in myotubular myopathy

Brain and behavior, 2013-07, Vol.3 (4), p.476-486

2013

Volltextzugriff (PDF)

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Cell, 1995-04, Vol.81 (1), p.27-40

1995

Volltextzugriff (PDF)

Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy

The Journal of physiology, 2001-06, Vol.533 (2), p.605-616

2001

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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (5), p.2305-2310

1999

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Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

Annals of neurology, 2001-05, Vol.49 (5), p.607-617

2001

Volltextzugriff (PDF)

Séance dédiée aux muscles. INTRODUCTION

Bulletin de l'Académie nationale de médecine, 2015-01, Vol.199 (1), p.19

Fardeau, Michel

2015

Volltextzugriff (PDF)

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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Mutations in dynamin 2 cause dominant centronuclear myopathy

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

MUSK, a new target for mutations causing congenital myasthenic syndrome

Natural history of LGMD2A for delineating outcome measures in clinical trials

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jules et Augusta Dejerine : biographies croisées

Jules and Augusta Dejerine: Crossing biographies

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

Neuromuscular disease: muscle

Phase i study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Extensive morphological and immunohistochemical characterization in myotubular myopathy

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy

Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

Séance dédiée aux muscles. INTRODUCTION

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