Parkinson Disease Genetics
Mostrando 1-9 de 9 artigos, teses e dissertações.
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1. The Parkinson's disease and restless legs syndrome/Willis-Ekbom disorder link: evidences, biases and clinical relevance
RESUMO A doença de Parkinson (DP) e a síndrome das pernas inquietas/doença de Willis-Ekbom (SPI/DWE) são doenças relativamente comuns no campo dos distúrbios do movimento. O fato de que ambas podem, como esperado, ocorrer de forma simultânea e usualmente apresentarem resposta favorável ao tratamento dopaminérgico levaram ao interesse em explorar car
Arq. Neuro-Psiquiatr.. Publicado em: 2019-01
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2. Estudo genético da doença de Parkinson / Genetical study of Parkinsons disease
Parkinson disease (PD) is the second most common neurodegenerative disorder affecting approximately 3% of the population over age 64. Most cases of PD manifest in sporadic form, but familial primary parkinsonism (PP) due to specific genetical abnormalities has been found in about 10% of cases diagnosed as PD. The aims of this study were to analyze the DNA of
Publicado em: 2007
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3. Mutações da glicocerebrosidade em pacientes com doença de Parkinson / Glucocerebrosidase mutations in Parkinsons disease patients
Introdução: A doença de Parkinson é uma enfermidade neurodegenerativa decorrente da perda de neurônios dopaminérgicos na substância negra, principalmente, e em outras regiões cerebrais. Caracteriza-se clinicamente por tremor, rigidez, bradicinesia e instabilidade postural. O tratamento é sintomático e consiste essencialmente na reposição da dopam
Publicado em: 2006
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4. Nuclear and mitochondrial genetics in Parkinson's disease.
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5. Etiology of Parkinson's disease: Genetics and environment revisited
National Academy of Sciences.
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6. Chaperoning brain degeneration
Drosophila has emerged as a première model system for the study of human neurodegenerative disease. Genes associated with neurodegeneration can be expressed in flies, causing phenotypes remarkably similar to those of the counterpart human diseases. Because human neurodegenerative diseases, including Huntington's and Parkinson's diseases, are disorders for w
The National Academy of Sciences.
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7. Genetics of Parkinson Disease
Summary: Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2
The American Society for Experimental NeuroTherapeutics.
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8. From genetics to pathology: tau and alpha-synuclein assemblies in neurodegenerative diseases.
The most common degenerative diseases of the human brain are characterized by the presence of abnormal filamentous inclusions in affected nerve cells and glial cells. These diseases can be grouped into two classes, based on the identity of the major proteinaceous components of the filamentous assemblies. The filaments are made of either the microtubule-assoc
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9. Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases
Protein aggregation and the formation of highly insoluble amyloid structures is associated with a range of debilitating human conditions, which include Alzheimer's disease, Parkinson's disease, and the Creutzfeldt–Jakob disease. Muscle acylphosphatase (AcP) has already provided significant insights into mutational changes that modulate amyloid formation. I
The National Academy of Sciences.