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Síndrome de ataxia telangiectasia sem ataxia: relato de caso
(Associação Brasileira de Alergia e Imunologia (ASBAI) e da Sociedad Latinoamericana de Alergia, Asma e Inmunología (SLAAI).SÃO PAULO, 2016-12-05)
A síndrome de ataxia telangiectasia (AT) é uma síndrome complexa, com herança autossômica
recessiva, de baixa incidência, que envolve múltiplos órgãos. É caracterizada por distúrbios neurológicos, ataxia cerebelar ...
Language, behavior and neurodevelopment in Joubert syndrome: A case report
(2016-01-01)
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, ...
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
(PUBLIC LIBRARY SCIENCESAN FRANCISCO, 2012)
An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen ...
Herpes simplex virus type 1-based amplicon vectors for fundamental research in neurosciences and gene therapy of neurological diseases
(Elsevier, 2012-01)
Somatic manipulation of the nervous system without the involvement of the germinal line appears as a powerful counterpart of the transgenic strategy. The use of viral vectors to produce specific, transient and localized ...
004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive ...
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
(2021)
Bi‐allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation ...