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Chediak-Higashi syndrome with parkinsonism
(Wiley-Blackwell, 2004-04-01)
Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We ...
Sistemas dopaminérgicos e ação antipsicótica: abordagens experimentais e teóricas
(Universidade Federal do Rio Grande do SulBrasilUFRGSPrograma de Pós-Graduação em Ciências Biológicas: BioquímicaDepartamento de Bioquímica, 2005-12)
The aims of this work were the search for new atypical antipsychotics presenting low cost and the understanding of the mechanism of action leading to atypical antipsychotic profile. The results obtained are presented in ...
Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
(2009)
Cerebrotendinous xanthomatosis is an inherited autosomal recessive disease caused by a mutation in the gene for the sterol 27-hydroxylase enzyme, which determines the accumulation of plasmatic cholestanol in various tissues. ...
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism
(Elsevier, 2020-08)
Introduction: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including ...
Neurocirugía funcional y estereotáxica en la enfermedad de Parkinson
(2016)
La enfermedad de Parkinson (EP) es la segunda enfermedad neurodegenerativa más prevalente en el mundo después de la enfermedad de Alzheimer, es una patología crónica y progresiva caracterizada por manifestarse con ...