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Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
(Academia Brasileira de Neurologia - ABNEURO, 2011)
Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have ...
Huntington`s Disease-Like 2 in Brazil-Report of 4 Patients
(WILEY-BLACKWELL, 2008)
Huntington`s disease-like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington`s disease (HD). HDL2 is caused ...
Swallowing endoscopy findings in Huntington's disease: A case report
(2016-01-01)
Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal ...
MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
(2019-07)
Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found
rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat ...
Periodontitis determining the onset and progression of Huntington's disease: review of the literature
(2015)
Huntington's disease is a neurodegenerative disorder caused by the expansion of a CAG triplet in the huntingtin gene. It presents with physical, cognitive and psychiatric impairment at different ages in the adult, and has ...
Usefulness of Heart Rate Variability to Identify the Risk of Falling in Huntington’s Disease
(Wiley, 2019)
Objective: To evaluate the relationship between the HRV and the risk of falling in HD patients.Background: Huntington’s disease (HD) patients have a high prevalence of falls, on the other hand, autonomic nervous system ...
Converging Pathways in the Occurrence of Endoplasmic Reticulum (ER) Stress in Huntington’s Disease
(Bentham Science Publishers Ltd., 2011)
A variety of neurological diseases including Huntington’s disease (HD), Alzheimer’s disease and
Parkinson’s disease share common neuropathology, primarily featuring the presence of abnormal protein
inclusions containing ...
Características clínicas y genético-moleculares de la enfermedad de Huntington en pacientes costarricenses: experiencia de 14 años de diagnóstico molecular
(2018-11-13)
Introducción: La enfermedad de Huntington (HD) es un trastorno neurodegenerativo hereditario, caracterizado por signos y síntomas motores, cognitivos y neuropsiquiátricos, causado por una expansión del trinucleótido ...
Características clínicas y genético-moleculares de la enfermedad de Huntington en pacientes costarricenses: experiencia de 14 años de diagnóstico molecular
(2018-11-13)
Introducción: La enfermedad de Huntington (HD) es un trastorno neurodegenerativo hereditario, caracterizado por signos y síntomas motores, cognitivos y neuropsiquiátricos, causado por una expansión del trinucleótido ...