Concepedia

Nebulin expression in patients with nemaline myopathy

Juliana Gurgel‐Giannetti, Umbertina C. Reed, Marie‐Louise Bang, Katarina Pelin, Kati Donner, Mary S. Carvalho, Moacir A.T Fireman, Edmar Zanoteli, Acary Souza Bullé Oliveira, Mayana Zatz,

Neuromuscular Disorders · 2001 · 45 citations · 31 references

DOI

Concepts

References

31

The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line.

Dieter O. Fürst, Mary Osborn, Rüdiger Nave et al. · The Journal of Cell Biology · 1988 · 622 citations · Full text

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NEMALINE MYOPATHY

G. MILTON SHY, W. King Engel, Jeffrey T. Somers et al. · Brain · 1963 · 469 citations

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Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Duangrurdee Wattanasirichaigoon, Hans H. Goebel, Matthew C. J. Wilce et al. · Nature Genetics · 1999 · 401 citations

, , +13

A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

Nigel G. Laing, P. Anthony Akkari, S.M. Dorosz et al. · Nature Genetics · 1995 · 355 citations

, , +8

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Katarina Pelin, Pirta Hilpelä, Kati Donner et al. · Proceedings of the National Academy of Sciences · 1999 · 332 citations

, , +11