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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

The FASEB journal, 2007-03, Vol.21 (3), p.732-742

2007

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Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

Neuromuscular disorders : NMD, 2001, Vol.11 (1), p.20-26

2001

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Molecular analysis of a spontaneous dystrophin `knockout' dog

Neuromuscular disorders : NMD, 1999-07, Vol.9 (5), p.289-295

1999

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Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B

Nature genetics, 1999-10, Vol.23 (2), p.141-142

1999

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Neuromuscular disorders : NMD, 2000-12, Vol.10 (8), p.553-559

2000

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The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Neuromuscular disorders : NMD, 2005-12, Vol.15 (12), p.863-877

2005

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Characterization of the Transmembrane Molecular Architecture of the Dystroglycan Complex in Schwann Cells

The Journal of biological chemistry, 1999-03, Vol.274 (12), p.8240-8246

1999

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Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle

Biochemical and biophysical research communications, 2003-04, Vol.303 (2), p.488-495

2003

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A Role of Dystroglycan in Schwannoma Cell Adhesion to Laminin

The Journal of biological chemistry, 1997-05, Vol.272 (21), p.13904-13910

1997

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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Neuromuscular disorders : NMD, 2001, Vol.11 (1), p.80-87

2001

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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Immunomarkers for molecular mass

Neuromuscular disorders : NMD, 1999-10, Vol.9 (6), p.421-422

Anderson, Louise V.B

1999

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Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins

The American journal of pathology, 1999-04, Vol.154 (4), p.1017-1022

1999

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Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Proteomics (Weinheim), 2006-11, Vol.6 (22), p.6075-6084

2006

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Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)

Journal of the neurological sciences, 1997-03, Vol.146 (2), p.173-178

1997

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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Nature medicine, 1999-05, Vol.5 (5), p.503-511

1999

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Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

Traffic (Copenhagen, Denmark), 2007-01, Vol.8 (1), p.77-88

2007

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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Human molecular genetics, 1999-05, Vol.8 (5), p.855-861

1999

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Human molecular genetics, 1999-05, Vol.8 (5), p.871-877

1999

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Clinical variability in calpainopathy: what makes the difference?

European journal of human genetics : EJHG, 2002-12, Vol.10 (12), p.825-832

2002

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Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

The American journal of pathology, 1998-10, Vol.153 (4), p.1169-1179

1998

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Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.721-730

2005

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A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

Journal of molecular medicine (Berlin, Germany), 2007-04, Vol.85 (4), p.415-420

2007

Volltextzugriff (PDF)

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.793-796

2000

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AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

Molecular analysis of a spontaneous dystrophin `knockout' dog

Dysferlin deletion in SJL mice (SJL- Dysf ) defines a natural model for limb girdle muscular dystrophy 2B

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

Characterization of the Transmembrane Molecular Architecture of the Dystroglycan Complex in Schwann Cells

Sarcoglycans of the zebrafish: orthology and localization to the sarcolemma and myosepta of muscle

A Role of Dystroglycan in Schwannoma Cell Adhesion to Laminin

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

Immunomarkers for molecular mass

Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins

Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Clinical variability in calpainopathy: what makes the difference?

Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

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