Encontrados 4 documentos, a visualizar página 1 de 1
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
Análise do padrão de metilação do promotor do gene ATXN3 em pacienetes com a do...
Emmel, Vanessa Erichsen; Alonso, Isabel da Conceição Moreira Pereira; Sequeiros, Jorge; Jardim, Laura Bannach; Pereira, Maria Luiza Saraiva
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 1...
Almeida, Teresa; Alonso, Isabel da Conceição Moreira Pereira; Martins, Sandra; Ramos, Eliana Marisa; Azevedo, Luísa; Ohno, Kinji; Amorim, AntonioSpinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The first families reported with SCA10 were of Mexican origin, but the disease was soon after described in Brazilian families of mixed Portuguese and Amerindian ancestry. The origin of the SCA10 expa...
Ataxias espinocerebelares em 114 famílias do sul do Brasil : achados clínicos e...
Kieling, Christian Costa; Trott, Alexis; Jardim, Laura Bannach; Wanderley, Héctor Yuri Conti; Ludwig, Henrique Tschoepke; Saute, Jonas Alex Morales
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||