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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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Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression

Brain (London, England : 1878), 2013-08, Vol.136 (Pt 8), p.2359-2368

2013

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Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

The Journal of cell biology, 2009-12, Vol.187 (6), p.859-874

2009

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Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

The Journal of cell biology, 2009-01, Vol.184 (1), p.31-44

2009

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Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

American journal of human genetics, 2009-08, Vol.85 (2), p.155-167

2009

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Congenital myasthenic syndromes: an update

Current opinion in neurology, 2013-10, Vol.26 (5), p.561-568

2013

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Brain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2429-2443

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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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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Congenital myasthenic syndromes

Handbook of Clinical Neurology, 2013, Vol.113, p.1469-1480

2013

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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

Human molecular genetics, 2008-11, Vol.17 (22), p.3577-3595

2008

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Endplate denervation correlates with Nogo‐A muscle expression in amyotrophic lateral sclerosis patients

Annals of clinical and translational neurology, 2015-04, Vol.2 (4), p.362-372

2015

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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Neuromuscular disorders : NMD, 2013-12, Vol.23 (12), p.998-1009

2013

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The origin of tubular aggregates in human myopathies

The Journal of pathology, 2005-11, Vol.207 (3), p.313-323

2005

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Congenital myasthenic syndromes; French experience

Bulletin de l'Académie nationale de médecine, 2014-02, Vol.198 (2), p.257-70; discussion 270-1

2014

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Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Journal of medical genetics, 2010-12, Vol.47 (12), p.795-796

2010

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Thrombomodulin as a New Marker of Lesion-Induced Astrogliosis: Involvement of Thrombin through the G-Protein-Coupled Protease-Activated Receptor-1

The Journal of neuroscience, 2000-04, Vol.20 (7), p.2543-2550

2000

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186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2012-06, Vol.22 (6), p.566-576

2012

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Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

American journal of human genetics, 2009-10, Vol.85 (4), p.536-536

2009

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A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

Neuromuscular disorders : NMD, 2007-05, Vol.17 (5), p.409-414

2007

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Sur la technique des biopsies musculaires (II) . Analyse de l’innervation motrice terminale et des plaques motrices en pathologie humaine: Un survol historique

Les Cahiers de Myologie, 2016-06 (13), p.7-10

2016

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Atypical nuclear abnormalities in a patient with Brody disease

Neuromuscular disorders : NMD, 2015-10, Vol.25 (10), p.773-779

2015

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126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2005-07, Vol.15 (7), p.498-512

2005

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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.24-32

2004

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

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Congenital myasthenic syndromes: an update

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

MUSK, a new target for mutations causing congenital myasthenic syndrome

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Congenital myasthenic syndromes

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

Endplate denervation correlates with Nogo‐A muscle expression in amyotrophic lateral sclerosis patients

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

The origin of tubular aggregates in human myopathies

Congenital myasthenic syndromes; French experience

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Thrombomodulin as a New Marker of Lesion-Induced Astrogliosis: Involvement of Thrombin through the G-Protein-Coupled Protease-Activated Receptor-1

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

Sur la technique des biopsies musculaires (II) . Analyse de l’innervation motrice terminale et des plaques motrices en pathologie humaine: Un survol historique

Atypical nuclear abnormalities in a patient with Brody disease

126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naarden, The Netherlands

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

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