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C.I.1 Congenital muscular dystrophy and dystroglycan glycosylation

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.831-832

Campbell, K.P

2007

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The ryanodine receptor/Ca2+ release channel

The Journal of biological chemistry, 1993-07, Vol.268 (19), p.13765-13768

1993

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Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus

The Journal of biological chemistry, 1994-05, Vol.269 (19), p.13729-13732

1994

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G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.812-812

2012

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D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.805-805

2012

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EM.O.2 Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.599-599

2009

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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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Isolation, characterization, and localization of the inositol 1,4,5-trisphosphate receptor protein in Xenopus laevis oocytes

The Journal of biological chemistry, 1992-09, Vol.267 (26), p.18776-18782

1992

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Characterization of the major brain form of the ryanodine receptor/Ca2+ release channel

The Journal of biological chemistry, 1993-09, Vol.268 (26), p.19785-19790

1993

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Purification of dystrophin from skeletal muscle

The Journal of biological chemistry, 1991-05, Vol.266 (14), p.9161-9165

1991

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Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression

The Journal of biological chemistry, 1994-02, Vol.269 (8), p.6040-6044

1994

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Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster

The Journal of biological chemistry, 1993-06, Vol.268 (16), p.11496-11499

1993

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Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

The Lancet (British edition), 1993-02, Vol.341 (8844), p.521-522

1993

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Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I

Neurology, 2011-01, Vol.76 (2), p.194

2011

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A monoclonal antibody to the beta subunit of the skeletal muscle dihydropyridine receptor immunoprecipitates the brain omega-conotoxin GVIA receptor

The Journal of biological chemistry, 1991-10, Vol.266 (28), p.18914-18919

1991

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The effects of ryanodine on passive calcium fluxes across sarcoplasmic reticulum membranes

The Journal of biological chemistry, 1987-02, Vol.262 (6), p.2711-2718

1987

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Minimum requirements for efficient transduction of dividing and nondividing cells by feline immunodeficiency virus vectors

Journal of Virology, 1999-06, Vol.73 (6), p.4991-5000

1999

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Reactive oxygen species deglycosilate glomerular α-dystroglycan

Kidney international, 2006-05, Vol.69 (9), p.1526-1534

2006

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Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)

The Journal of biological chemistry, 1993-11, Vol.268 (32), p.23739-23742

1993

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Localization of the high affinity calcium binding protein and an intrinsic glycoprotein in sarcoplasmic reticulum membranes

The Journal of biological chemistry, 1980-02, Vol.255 (4), p.1317-1326

1980

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114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)

Neuromuscular disorders : NMD, 2003-09, Vol.13 (7), p.579-588

2003

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Primary structure and topological analysis of a skeletal muscle-specific junctional sarcoplasmic reticulum glycoprotein (triadin)

The Journal of biological chemistry, 1993-06, Vol.268 (17), p.12646-12654

1993

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Biochemical characterization of ultrastructural localization of a major junctional sarcoplasmic reticulum glycoprotein (triadin)

The Journal of biological chemistry, 1993-06, Vol.268 (17), p.12637-12645

1993

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Photoaffinity labeling of the ryanodine receptor/Ca2+ release channel with an azido derivative of ryanodine

The Journal of biological chemistry, 1994-05, Vol.269 (18), p.13076-13079

1994

Volltextzugriff (PDF)

β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

Neuromuscular disorders : NMD, 1998-02, Vol.8 (1), p.30-38

1998

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C.I.1 Congenital muscular dystrophy and dystroglycan glycosylation

The ryanodine receptor/Ca2+ release channel

Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus

G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes

EM.O.2 Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy

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

Isolation, characterization, and localization of the inositol 1,4,5-trisphosphate receptor protein in Xenopus laevis oocytes

Characterization of the major brain form of the ryanodine receptor/Ca2+ release channel

Purification of dystrophin from skeletal muscle

Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression

Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster

Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I

A monoclonal antibody to the beta subunit of the skeletal muscle dihydropyridine receptor immunoprecipitates the brain omega-conotoxin GVIA receptor

The effects of ryanodine on passive calcium fluxes across sarcoplasmic reticulum membranes

Minimum requirements for efficient transduction of dividing and nondividing cells by feline immunodeficiency virus vectors

Reactive oxygen species deglycosilate glomerular α-dystroglycan

Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)

Localization of the high affinity calcium binding protein and an intrinsic glycoprotein in sarcoplasmic reticulum membranes

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)

Primary structure and topological analysis of a skeletal muscle-specific junctional sarcoplasmic reticulum glycoprotein (triadin)

Biochemical characterization of ultrastructural localization of a major junctional sarcoplasmic reticulum glycoprotein (triadin)

Photoaffinity labeling of the ryanodine receptor/Ca2+ release channel with an azido derivative of ryanodine

β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

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