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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Annals of neurology, 2000-08, Vol.48 (2), p.170-180

2000

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Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Neurology, 2007-05, Vol.68 (22), p.1883

2007

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Les conductrices symptomatiques pour les dystrophinopathies avec biais d'inactivation du chromosome X

Revue neurologique, 2003-09, Vol.159 (8-9), p.775-780

2003

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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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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1260-1268

2006

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Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy

Heart (British Cardiac Society), 2004-08, Vol.90 (8), p.947-948

2004

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Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression

Human molecular genetics, 1998-05, Vol.7 (5), p.855-864

1998

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Nature genetics, 1995-06, Vol.10 (2), p.243-245

1995

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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

The Journal of clinical investigation, 2000-02, Vol.105 (3), p.321-328

2000

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Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

Cell, 1990-12, Vol.63 (6), p.1239-1248

1990

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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

European journal of human genetics : EJHG, 1994, Vol.2 (2), p.110-124

1994

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Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

Human molecular genetics, 1996-07, Vol.5 (7), p.977-979

1996

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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

American journal of human genetics, 1989-10, Vol.45 (4), p.498-506

1989

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Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin

The Journal of clinical investigation, 1993-08, Vol.92 (2), p.866-871

1993

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Illegitimate transcription : application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

The Journal of clinical investigation, 1991-10, Vol.88 (4), p.1161-1166

1991

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The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Neuromuscular disorders : NMD, 2004-10, Vol.14 (10), p.650-658

2004

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Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization ?

The Journal of clinical investigation, 1992-02, Vol.89 (2), p.712-716

1992

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Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin

American journal of human genetics, 1993-08, Vol.53 (2), p.409-416

1993

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Pathologie moléculaire des dystrophies musculaires de Duchenne et de Becker

Comptes rendus des séances de la Société de biologie et de ses filiales, 1992, Vol.186 (4), p.349-353

1992

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X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Muscle & nerve, 2005-07, Vol.32 (1), p.61-65

2005

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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Human molecular genetics, 1992-11, Vol.1 (8), p.579-585

1992

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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 highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)

Nucleic acids research, 1991-06, Vol.19 (11), p.3159-3159

1991

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Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies

Genomics (San Diego, Calif.), 1989-10, Vol.5 (3), p.574-580

1989

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82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.187-194

2002

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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Les conductrices symptomatiques pour les dystrophinopathies avec biais d'inactivation du chromosome X

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

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy

Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin

Illegitimate transcription : application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization ?

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin

Pathologie moléculaire des dystrophies musculaires de Duchenne et de Becker

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

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

A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

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