Credencia o curso "Recursos no Código de Processo Civil" promovido pela Escola Superior da Magistratura do Estado do Pará- ESMPA

Barnitz, C.

Charlier, Carole

Gruenthal, K.

Kuhn, R.

Leppert, M.

Otterud, B.

Pappas, C.

Peiffer, A.

Thompson, J.

Varvil, T.

Beekvelt, M.C.P. van

Engelen, B.G.M. van

Wevers, R.A.

Colier, W.N.J.M.

NARCIS 

Quantitative Near-Infrared Spectroscopy descriminates between Mitochondrial myopathies and normal muscle

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the arl subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern. In the present study, we describe the genetic analysis of the GLRA1 gene of a family consisting of 2 children with hyperekplexia, 2 nonaffected children, and their healthy nonconsanguineous parents. Although the pedigree suggested the presence of a recessive mutation, haplotype construction showed that the 2 affected children shared the same haplotype combination in which the maternal haplotype differed from the paternal haplotype, suggesting the presence of compound heterozygosity. Mutation analysis revealed different missense mutations on the two haplotypes, changing an arginine to a histidine at amino acid positions 252 and 392, respectively. It is interesting that the hyperekplexia phenotype was only seen in individuals compound heterozygous for the two mutations, whereas: family members carrying either one of the two mutations had no clinical signs.</p

Vergouwe, MN

Tijssen, MAJ

Peters, ACB

Wielaard, R

Frants, RR

ARTS repository - University of Groningen

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

Alzheimer's disease (AD) is the most common form of neurodegenerative disorder of later life. Genetic studies have demonstrated that the apolipoprotein E (ApoE) gene is an important susceptibility locus; however, other environmental and genetic factors operating alone or in combination with ApoE must also be involved. Among candidate genes that may contribute to this residual risk is the endothelial nitric oxide synthase (NOS3) gene. NO release from vascular endothelium accounts in large pan for endothelium-derived relaxing factor bioactivity. Abnormalities of cerebral small vessels occur early in AD, and it has been demonstrated recently that beta-amyloid interacts with endothelial cells in blood vessels to produce an excess of superoxide radicals. We have genotyped 122 cases of early-onset AD (EOAD) and 317 cases of late-onset AD (LOAD) as well as 392 controls for a common structural polymorphism Glu/Asp at codon 298 in the NOS3 gene. We find a highly significant enrichment for Glu/Glu homozygotes in LOAD compared with controls. The effect appears to be independent of ApoE status. NOS3 may be a new genetic risk factor for LOAD

Dahiyat, M.

Cumming, A.

Harrington, C.

Wischik, C.

Xuereb, J.

Corrigan, F.

Breen, G.

Shaw, D.

St Clair, D.

King's Research Portal

Association between Alzheimer's disease and the NOS3 gene

University of Groningen Research Database

University of Groningen

Radboud Repository

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the arl subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern. In the present study, we describe the genetic analysis of the GLRA1 gene of a family consisting of 2 children with hyperekplexia, 2 nonaffected children, and their healthy nonconsanguineous parents. Although the pedigree suggested the presence of a recessive mutation, haplotype construction showed that the 2 affected children shared the same haplotype combination in which the maternal haplotype differed from the paternal haplotype, suggesting the presence of compound heterozygosity. Mutation analysis revealed different missense mutations on the two haplotypes, changing an arginine to a histidine at amino acid positions 252 and 392, respectively. It is interesting that the hyperekplexia phenotype was only seen in individuals compound heterozygous for the two mutations, whereas: family members carrying either one of the two mutations had no clinical signs

Escola Nacional de Formação e Aperfeiçoamento de Magistrados (Brasil) (ENFAM)

Biblioteca Digital Jurídica do Superior Tribunal de Justiça

  Superior Tribunal de Justiça PORTARIA DE CREDENCIAMENTO ENFAM N. 87 DE 22 DE MAIO DE 2017 Credencia o curso promovido pela Escola Superior da Magistratura do Estado do Pará- ESMPA.O SECRETÁRIO-GERAL DA ESCOLA NACIONAL DE FORMAÇÃO E APERFEIÇOAMENTO DE MAGISTRADOS MINISTRO SÁLVIO DE FIGUEIREDO TEIXEIRA – ENFAM, usando de suas atribuições, considerando o disposto na Resolução ENFAM n. 2 de 8 de junho de 2016 e o contido nos Processos STJ no SEI n. 010477 e no SISFAM n. 201799,RESOLVE:Art. 1° Credenciar, para efeitos do disposto na mencionada Resolução, o curso Recursos no Código de Processo Civil, com carga horária total de 20 (vinte) horas-aula, realizado pela Escola Superior da Magistratura do Estado do Pará- ESMPA, nos termos dos processos em epígrafe.Art 2° Esta portaria entra em vigor na data de sua publicação.CARL OLAV SMITH    Documento: 72856486 Página  1 de 1DIÁRIO DA JUSTIÇA ELETRÔNICOEdição nº 2208 - Brasília, Disponibilização: Terça-feira, 23 de Maio de 2017   Publicação: Quarta-feira, 24 de Maio de 2017  Este texto não substitui o publicado no Diário da Justiça Eletrônico do STJ de 24 maio 2017.     