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Muscle excitability abnormalities in Machado-Joseph disease
(Amer Medical AssocChicagoEUA, 2008)
Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)
(Journal Of The Neurological Sciences, 2023)
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
(Elsevier Science, 2017-07)
Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of ...
Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3
(Springer HeidelbergHeidelbergAlemanha, 2013)
Genetic testing in the epilepsies-Report of the ILAE Genetics Commission
(Wiley-blackwell Publishing, IncMaldenEUA, 2010)
Detección de alteraciones cognitivas en una población de adultos consumidores crónicos de alcohol mediante la validación de la prueba de tamizaje neuropsicológica BEARNI (Brief Evaluation of Alcohol-Related Neuropsychological Impairments). Bogotá D.C 2017
(2018-11)
El consumo de alcohol es considerado un problema de salud pública en el mundo por su alta carga socio-sanitaria. Se ha descrito como los daños ocasionados en regiones de la corteza frontal ocasionan una serie de dificultades ...
Síndrome da pessoa rígida: avaliação de 14 pacientes
(Universidade Federal de São Paulo (UNIFESP), 2016-09-27)
Main objective: to describe the characteristics of patients with stiff person syndrome (SPS). Secundary: a) to evaluate clinical and laboratorial findings; b)to identify the best therapeutic responses; c) to identify ...
Identificación de indicadores de calidad de la atención para fisioterapia: una revisión sistemática
Introduction: Despite the emerging role of indicators for the evaluation of quality of care in physical therapy, these have been developed mainly for other health areas and only some are relevant and applicable to physical ...