Zobrazeno 1 - 6
of 6
pro vyhledávání: '"L B, Jardim"'
Autor:
G N, Souza, N, Kersting, A C, Krum-Santos, A S P, Santos, G V, Furtado, D, Pacheco, T A, Gonçalves, J A, Saute, L, Schuler-Faccini, E P, Mattos, M L, Saraiva-Pereira, L B, Jardim
Publikováno v:
Clinical genetics. 90(2)
Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) need clarification. Additional evidence about these issues was obtained from the coho
Publikováno v:
Clinical genetics. 89(3)
We aimed to present a systematic review on Huntington's disease (HD) in Latin America (LA). PubMed and LILACS were searched up to March 2015, reporting confirmed HD cases in LA. Case series, cross-sectional, case-control, and prospective studies were
Autor:
R M, Castilhos, A F D, Souza, G V, Furtado, T C, Gheno, A L, Silva, F R, Vargas, M-A F D, Lima, O, Barsottini, J L, Pedroso, C, Godeiro, D, Salarini, E T, Pereira, K, Lin, M-B, Toralles, J A M, Saute, C R, Rieder, M, Quintas, J, Sequeiros, I, Alonso, M L, Saraiva-Pereira, L B, Jardim
Publikováno v:
Clinical genetics. 86(4)
The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea
Autor:
T L, Monte, C R M, Rieder, A B, Tort, I, Rockenback, M L, Pereira, I, Silveira, A, Ferro, J, Sequeiros, L B, Jardim
Publikováno v:
Acta neurologica Scandinavica. 107(3)
Machado-Joseph Disease (MJD/SCA3) is an autosomal dominant spinocerebellar degeneration that evolves to disability and death. Experimental data have shown that serotonin is an important cerebellar neurotransmitter and that impairment of the serotonin
Publikováno v:
Acta neurologica Scandinavica. 104(4)
To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature.Some 62 individuals from 35 families, mostly o
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b73b763cefbf74db5e04b2a68894642d
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033090749&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033090749&partnerID=MN8TOARS