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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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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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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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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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Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Neuromuscular disorders : NMD, 2003-03, Vol.13 (3), p.236-244

2003

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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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Congenital myasthenic syndromes

Current opinion in neurology, 2004-10, Vol.17 (5), p.539-551

2004

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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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Immunocytochemical characterization of a new marker of fibrous and reactive astrocytes

Cell and tissue research, 1995-12, Vol.283 (1), p.39-49

1995

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Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.371-371

2014

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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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Characteristics of Skeletal Muscle in Mdx Mutant Mice

International Review of Cytology, 1999, Vol.191, p.99-148

1999

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

PloS one, 2013-01, Vol.8 (9)

2013

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Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro

The European journal of neuroscience, 2004-04, Vol.19 (8), p.2099-2108

2004

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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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Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nAChR ε-subunit

Journal of physiology, Paris, 2006-03, Vol.99 (2), p.2-3

2006

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Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1

Journal of cellular physiology, 2003-07, Vol.196 (1), p.105-112

2003

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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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Mutations in MUSK cause congenital myasthenic syndrome

Journal of physiology, Paris, 2006-03, Vol.99 (2), p.2-3

2006

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Modification of mitochondrial metabolism in fibroblasts from mice with a skeletal muscle mutation (muscular dysgenesis)

Differentiation (London), 2000-06, Vol.65 (5), p.261-270

2000

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

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

MUSK, a new target for mutations causing congenital myasthenic syndrome

The origin of tubular aggregates in human myopathies

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

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

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

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

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

Congenital myasthenic syndromes

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

Immunocytochemical characterization of a new marker of fibrous and reactive astrocytes

Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]

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

Characteristics of Skeletal Muscle in Mdx Mutant Mice

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

Thrombin reduces MuSK and acetylcholine receptor expression along with neuromuscular contact size in vitro

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

Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nAChR ε-subunit

Thrombin downregulates muscle acetylcholine receptors via an IP3 signaling pathway by activating its G-protein-coupled protease-activated receptor-1

MUSK, a new target for mutations causing congenital myasthenic syndrome

Mutations in MUSK cause congenital myasthenic syndrome

Modification of mitochondrial metabolism in fibroblasts from mice with a skeletal muscle mutation (muscular dysgenesis)

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