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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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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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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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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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Inhibition of proliferation in 8-week-old mdx mouse muscle fibroblasts in vitro

Differentiation (London), 1995-10, Vol.59 (3), p.145-154

1995

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Effect of sera from myasthenia gravis patients and of α-bungarotoxin on acetylcholinesterase during in vitro neuromuscular synaptogenesis

Journal of the neurological sciences, 1993-07, Vol.117 (1), p.92-102

1993

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Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

Journal de la Société de biologie, 2005, Vol.199 (1), p.61

2005

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Fruits and Vegetables and Ovarian Cancer Risk in a Pooled Analysis of 12 Cohort Studies

Cancer epidemiology, biomarkers & prevention, 2005-09, Vol.14 (9), p.2160-2167

2005

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Buffering Capacity of Coal and Its Acid-Soluble Fe2+ Content: Possible Role in Coal Workers' Pneumoconiosis

Chemical research in toxicology, 1998-07, Vol.11 (7), p.722-729

1998

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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

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

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

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

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

Inhibition of proliferation in 8-week-old mdx mouse muscle fibroblasts in vitro

Effect of sera from myasthenia gravis patients and of α-bungarotoxin on acetylcholinesterase during in vitro neuromuscular synaptogenesis

Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

A Pooled Analysis of 12 Cohort Studies of Dietary Fat, Cholesterol and Egg Intake and Ovarian Cancer

Fruits and Vegetables and Ovarian Cancer Risk in a Pooled Analysis of 12 Cohort Studies

Buffering Capacity of Coal and Its Acid-Soluble Fe2+ Content: Possible Role in Coal Workers' Pneumoconiosis

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