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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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Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

Journal of cell science, 2001-07, Vol.114 (Pt 14), p.2577-2590

2001

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Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Muscle & nerve, 2004-10, Vol.30 (4), p.444-450

2004

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Progeroide Laminopathien zwischen Hutchinson-Gilford-Syndrom, restriktiver Dermopathie und mandibuloakraler Dysplasie

Medizinische Genetik, 2012-12, Vol.24 (4), p.257-261

2012

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Emery-Dreifuss-Muskeldystrophie: Klinische Variabilität und genetische Heterogenität

Medizinische Genetik, 2009-09, Vol.21 (3), p.343-348

Wehnert, M.

2009

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G.P.15.04 Collagen VI deficiency in skin fibroblasts from progeroid laminopathies

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.648-648

2009

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NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

Neurology, 2002-06, Vol.58 (12), p.1861

2002

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Altered pre-lamin A processing is a common mechanism leading to lipodystrophy

Human molecular genetics, 2005-06, Vol.14 (11), p.1489-1502

2005

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The Emery-Dreifuss Muscular Dystrophy Mutation Database

Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.199-199

1999

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X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

Clinical neuropathology, 2010-03, Vol.29 (2), p.78

2010

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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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Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

Human genetics, 2000-12, Vol.107 (6), p.597-611

2000

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Effects of 30 days of creatine ingestion in older men

European journal of applied physiology and occupational physiology, 1999-07, Vol.80 (2), p.139-144

1999

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New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1002-1011

2014

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D.P.1.09 Study of DUX4 and DUX4c in facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.729-729

2008

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G.P.5.06 LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.799-799

2007

Volltextzugriff (PDF)

Progeroide Laminopathien zwischen Hutchinson-Gilford-Syndrom, restriktiver Dermopathie und mandibuloakraler Dysplasie

Medizinische Genetik, 2012-12, Vol.24 (4), p.257-261

2012

Volltextzugriff (PDF)

Emery-Dreifuss-Muskeldystrophie: Klinische Variabilität und genetische Heterogenität

Medizinische Genetik, 2009-09, Vol.21 (3), p.343-348

Wehnert, M.

2009

Volltextzugriff (PDF)

Emery-Dreifuss-Muskeldystrophie

Medizinische Genetik, 2009-09, Vol.21 (3), p.343-348

Wehnert, M.

2009

Volltextzugriff (PDF)

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein

Human genetics, 1999-11, Vol.105 (5), p.506-512

1999

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Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues

Cytogenetics and cell genetics, 2001, Vol.94 (3-4), p.233

2001

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Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.15-27

2001

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p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

Annals of neurology, 2005-01, Vol.57 (1), p.148-151

2005

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World distribution of factor V Leiden mutation

The Lancet (British edition), 1996-01, Vol.347 (8993), p.58-59

1996

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Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

Neurology, 1997-06, Vol.48 (6), p.1719

1997

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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

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Progeroide Laminopathien zwischen Hutchinson-Gilford-Syndrom, restriktiver Dermopathie und mandibuloakraler Dysplasie

Emery-Dreifuss-Muskeldystrophie: Klinische Variabilität und genetische Heterogenität

G.P.15.04 Collagen VI deficiency in skin fibroblasts from progeroid laminopathies

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy

The Emery-Dreifuss Muscular Dystrophy Mutation Database

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

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

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

Effects of 30 days of creatine ingestion in older men

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

D.P.1.09 Study of DUX4 and DUX4c in facioscapulohumeral muscular dystrophy

G.P.5.06 LMNA p.R644C: Pathogenic mutation of low penetrance, disease modifier or polymorphism?

Progeroide Laminopathien zwischen Hutchinson-Gilford-Syndrom, restriktiver Dermopathie und mandibuloakraler Dysplasie

Emery-Dreifuss-Muskeldystrophie: Klinische Variabilität und genetische Heterogenität

Emery-Dreifuss-Muskeldystrophie

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein

Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

World distribution of factor V Leiden mutation

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

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