Neuromuscular disease

Citations 181-188 of 188 total displayed.

Review articles
Mitochondrial DNA analysis: polymorphisms and pathogenicity

Patrick F Chinnery, Neil Howell, Richard M Andrews, Douglass M Turnbull
J. Med. Genet. 1999; 36: 505-510. [Abstract] [Full text] [PDF] [Request Permissions]  

Review articles
Clinical mitochondrial genetics

Patrick F Chinnery, Neil Howell, Richard M Andrews, Douglass M Turnbull
J. Med. Genet. 1999; 36: 425-436. [Abstract] [Full text] [PDF] [Request Permissions]  

Medical genetics: advances in brief
Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China

FRANCES FLINTER
J. Med. Genet. 1999; 36: 503a. [Extract] [Full text] [Request Permissions]  

Original articles
Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family

Tracey A Smith, Shu C Yau, Martin Bobrow, Stephen J Abbs
J. Med. Genet. 1999; 36: 313-315. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy

Kathleen M Fitzgerald, Gerhard W Cibis, Ann Headrick Gettel, Robert Rinaldi, David J Harris, Robert A White
J. Med. Genet. 1999; 36: 316-322. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A clinical study of type 1 neurofibromatosis in north west England

J M McGaughran, D I Harris, D Donnai, D Teare, R MacLeod, R Westerbeek, H Kingston, M Super, R Harris, D G R Evans
J. Med. Genet. 1999; 36: 197-203. [Abstract] [Full text] [PDF] [Request Permissions]  

Review articles
Spinal muscular atrophy: untangling the knot?

Ivan Biros, Susan Forrest
J. Med. Genet. 1999; 36: 1-8. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

Marion G Hamshere, Helen Harley, Peter Harper, J David Brook, John F Y Brookfield
J. Med. Genet. 1999; 36: 59-61. [Abstract] [Full text] [PDF] [Request Permissions]