Results 31 to 40 of about 74 (70)

Enfermagem de reabilitação à pessoa com doença de Machado Joseph: scoping review

open access: yesPensar Enfermagem, 2023
Teresa Ferreira   +5 more
doaj   +1 more source

Spinocerebellar ataxia type 7 (SCA7): family princeps’ history, genealogy and geographical distribution Ataxia espinocerebelar do tipo 7 (AEC7): história, genealogia e distribuição geográfica da família princeps

open access: yesArquivos de Neuro-Psiquiatria, 2006
We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information,
Salomão da Cunha Linhares   +2 more
openaire   +1 more source

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene

open access: yesArquivos de Neuro-Psiquiatria, 2007
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry.
Hélio A.G. Teive   +4 more
openaire   +1 more source

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

open access: yesArquivos de Neuro-Psiquiatria, 1997
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes.
Iscia Lopes-Cendesi   +21 more
openaire   +1 more source

Disminución progresiva del volumen de materia gris y su correlación con la conducta motora y cognitiva en pacientes con Ataxia Espinocerebelar Tipo 7 (SCA7)

open access: yes, 2021
El objetivo de esta tesis es hacer una investigación sobre la ataxia espinocerebelar tipo 7 (SCA7 por sus siglas en inglés) es una enfermedad neurodegenerativa, autosómica dominante y caracterizada por ataxia progresiva y pérdida visual. La presencia de ataxina 7 mutante provoca esta enfermedad pues posee un grado de toxicidad para la neurona ...
openaire   +1 more source

Atendimento Fisioterapêutico para Indivíduos com Ataxia Espinocerebelar: Uma Revisão da Literatura

open access: yesRevista Neurociências, 2013
Nathalie Artigas   +5 more
openaire   +1 more source

Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7 Paraparesia espástica como manifestação inicial da ataxia espinocerebelar do tipo 7

open access: yesArquivos de Neuro-Psiquiatria, 2008
Salomão da Cunha Linhares   +5 more
openaire   +1 more source

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