Aspectos genéticos da Esclerose Lateral Amiotrófica

Autores

  • Monize Lazar Magalhães Pós-graduanda em Genética Humana, Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo.
  • Mayana Zatz Professora titular de Genética Humana e Coordenadora do Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo

DOI:

https://doi.org/10.34024/rnc.2006.v14.8769

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Referências

- Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide-dismutase gene are associated with familial amyotrophic-lateral-sclerosis. Nature 1993; 362:59–62.

Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD 1 mutation share a common founder: evidence for a linked protective factor. Hum Molecul Genet 1998; 7(13):2045-2050.3.Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is utated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29(2):160-165.

Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29(2):166-173.

Shaw PJ. Molecular and cellular pathways of neurodegeneration in motor neurone disease. J Neurol Neurosurg Psychiatr 2005; 76:1046-1057.

Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Cápua M, Bertini E, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002; 71(3):518-527.

Gros-Louis F, Meijer IA, Hand CK, Dube MP, MacGregor DL, Seni MH, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003; 53(1): 144-145.

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74(6):1128-1135.

Nishimura AL, Mitne-Neto M, Silva HCA, Oliveira JRM, Vainzof M, Zatz M. A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J Med Genet 2004; 41(4):315-320.

Nishimura AL, Mitne-Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, et al. A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis. Am J Hum Genet 2004;75(5):822-831.

Soussan L, Burakov D, Daniels MP, Toister-Achituv M, Porat A, Yarden Y, et al. ERG30, a VAP-33-related Protein, Functions in Protein Transport Mediated by COPI Vesicles. J Cell Biol 1999; 146(2):301-311.

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Publicado

2006-10-31

Como Citar

Magalhães, M. L., & Zatz, M. (2006). Aspectos genéticos da Esclerose Lateral Amiotrófica. Revista Neurociências, 14, 43–47. https://doi.org/10.34024/rnc.2006.v14.8769

Edição

v. 14 (2006): V SIMPÓSIO BRASILEIRO DE DNM/ELA - I SIMPÓSIO VERDE VIDA SAÚDE

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Artigos Originais
Recebido: 2019-02-28
Publicado: 2006-10-31

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