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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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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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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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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

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Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A

Brain (London, England : 1878), 2007-12, Vol.130 (12), p.3237-3249

2007

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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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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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Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

Neuroreport, 2001-03, Vol.12 (3), p.625-629

2001

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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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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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Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus

Neurogenetics, 2003-08, Vol.4 (4), p.173-177

2003

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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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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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Dysferlin protein analysis in limb-girdle muscular dystrophies

Journal of molecular neuroscience, 2001-08, Vol.17 (1), p.71-80

2001

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Diagnostic Protein Expression in Human Muscle Biopsies

Brain pathology (Zurich, Switzerland), 2000-04, Vol.10 (2), p.193-214

2000

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Characterization of Dystroglycan‐Laminin Interaction in Peripheral Nerve

Journal of neurochemistry, 1996-04, Vol.66 (4), p.1518-1524

1996

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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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Identification of putativein 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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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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The Expression of Dystrophin-associated Glycoproteins During Skeletal Muscle Degeneration and Regeneration. An Immunofluorescence Study

Journal of neuropathology and experimental neurology, 1995-07, Vol.54 (4), p.557-569

1995

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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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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 new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of [delta]-SG protein

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

2007

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Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy

Human molecular genetics, 1997-07, Vol.6 (7), p.1185-1191

1997

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

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

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

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

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A

Clinical variability in calpainopathy: what makes the difference?

Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

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

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

Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus

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

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

Dysferlin protein analysis in limb-girdle muscular dystrophies

Diagnostic Protein Expression in Human Muscle Biopsies

Characterization of Dystroglycan‐Laminin Interaction in Peripheral Nerve

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

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

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

The Expression of Dystrophin-associated Glycoproteins During Skeletal Muscle Degeneration and Regeneration. An Immunofluorescence Study

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

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

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

Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy

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