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The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2015-12, Vol.25 (12), p.991-1020

2015

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The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1123-1153

2014

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Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping

Science (American Association for the Advancement of Science), 2004-12, Vol.306 (5702), p.1796-1799

2004

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The 2012 version of the gene table of monogenic neuromuscular disorders

Neuromuscular disorders : NMD, 2011-12, Vol.21 (12), p.833-861

Kaplan, Jean-Claude

2011

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The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2013-12, Vol.23 (12), p.1081-1111

2013

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L’Homme Gelé (渐冻人) et le déficit en cristalline αB

M.S. Médecine sciences, 2020-12, Vol.36, p.38-50

2020

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Glané sur le Web “GLOW”

M.S. Médecine sciences, 2018-11, Vol.34, p.51-51

2018

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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.45-45, Article 45

2012

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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Skeletal muscle, 2020-08, Vol.10 (1), p.23-23, Article 23

2020

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Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

Human mutation, 2007-02, Vol.28 (2), p.183-195

2007

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The 2011 version of the gene table of neuromuscular disorders

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.852-873

Kaplan, Jean-Claude

2010

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Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

Human molecular genetics, 2012-08, Vol.21 (15), p.3449-3460

2012

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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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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Muscle & nerve, 2011-11, Vol.44 (5), p.710-714

2011

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The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscular disorders : NMD, 2012-12, Vol.22 (12), p.1108-1135

2012

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Nature (London), 1994-12, Vol.372 (6507), p.672-676

1994

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Cell, 1994-08, Vol.78 (4), p.625-633

1994

Volltextzugriff (PDF)

Innovating therapies for muscle diseases

Handbook of Clinical Neurology, 2013, Vol.113, p.1497-1501

2013

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Lost after translation

M.S. Médecine sciences, 2008-11, Vol.24 (11), p.912-915

Kaplan, Jean-Claude

2008

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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.10-18

2004

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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

Annals of neurology, 1997-08, Vol.42 (2), p.222-229

1997

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Nature (London), 1992-09, Vol.359 (6393), p.320-322

1992

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Transcription of the dystrophin gene in human muscle and non-muscle tissues

Nature (London), 1988-06, Vol.333 (6176), p.858-860

1988

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The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Rescue of Dystrophic Muscle through U7 snRNA-Mediated Exon Skipping

The 2012 version of the gene table of monogenic neuromuscular disorders

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

L’Homme Gelé (渐冻人) et le déficit en cristalline αB

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Glané sur le Web “GLOW”

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

The 2011 version of the gene table of neuromuscular disorders

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

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

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Innovating therapies for muscle diseases

Lost after translation

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Transcription of the dystrophin gene in human muscle and non-muscle tissues

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