Concepedia

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

H.B. Ginjaar, Anneke J. van der Kooi, H. Ceelie, Alexander L.J. Kneppers, M. van Meegen, P. G. Barth, H. F. M. Busch, John H. J. Wokke, Louise V.B. Anderson, Carsten G. Bönnemann,

Journal of Neurology · 2000 · 56 citations · 33 references

DOI

Concepts

References

33

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Dystrophin: The protein product of the duchenne muscular dystrophy locus

Eric P. Hoffman, Robert H. Brown, Louis M. Kunkel · Cell · 1987 · 4.7K citations

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Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

James M. Ervasti, Kay Ohlendieck, Steven D. Kahl et al. · Nature · 1990 · 1K citations

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

, , +11

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 919 citations

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