epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

Autor Klein, C. Google Scholar
Liu, L. Google Scholar
Doheny, D. Google Scholar
Kock, N. Google Scholar
Muller, B. Google Scholar
Aguiar, P. D. Google Scholar
Leung, J. Google Scholar
Leon, D. de Google Scholar
Bressman, S. B. Google Scholar
Silverman, J. Google Scholar
Smith, C. Google Scholar
Danisi, F. Google Scholar
Morrison, C. Google Scholar
Walker, R. H. Google Scholar
Velickovic, M. Google Scholar
Schwinger, E. Google Scholar
Kramer, P. L. Google Scholar
Breakefield, X. O. Google Scholar
Brin, M. F. Google Scholar
Ozelius, L. J. Google Scholar
Instituição Med Univ Lubeck
Albert Einstein Coll Med
Mt Sinai Sch Med
Universidade Federal de São Paulo (UNIFESP)
Massachusetts Gen Hosp
Harvard Univ
Beth Israel Med Ctr
Vet Affairs Med Ctr
Oregon Hlth Sci Univ
Resumo Myoclonus-dystonia is a movement disorder associated with mutations in the c-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. in both of the latter families, we also found a mutation of SGCE. the molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.
Idioma Inglês
Data de publicação 2002-11-01
Publicado em Annals of Neurology. New York: Wiley-liss, v. 52, n. 5, p. 675-679, 2002.
ISSN 0364-5134 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 675-679
Fonte http://dx.doi.org/10.1002/ana.10358
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000178914000026
Endereço permanente http://repositorio.unifesp.br/handle/11600/27014

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