Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Calpainopatia"'
Autor:
Marco Antônio Veloso de Albuquerque, Osório Abath Neto, Francisco Marcos Alencar da Silva, Edmar Zanoteli, Umbertina Conti Reed
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 73, Iss 12, Pp 993-997 (2015)
ABSTRACT Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally
Externí odkaz:
https://doaj.org/article/ac80373fbd6a4dadae6852d12873703d
Autor:
Osorio Abath Neto, Umbertina Conti Reed, Edmar Zanoteli, Francisco Marcos Alencar da Silva, Marco A.V. Albuquerque
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 73, Iss 12, Pp 993-997 (2015)
Arquivos de Neuro-Psiquiatria, Volume: 73, Issue: 12, Pages: 993-997, Published: DEC 2015
Arquivos de Neuro-Psiquiatria v.73 n.12 2015
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 73, Issue: 12, Pages: 993-997, Published: DEC 2015
Arquivos de Neuro-Psiquiatria v.73 n.12 2015
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::559d9b3fce3fd1d703b50fde10e81a0f
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001200993&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001200993&lng=en&tlng=en
Autor:
Oliveira, Márcia E., Maia, Nuno, Vieira, Emília, Evangelista, Teresinha, Melo Pires, Manuel, Peixoto Silveira, Fernando, Santos, Rosário
INTRODUÇÃO A Distrofia Muscular das Cinturas tipo 2A (Limb girdle muscular dystrophy type 2A, LGMD2A) ou Calpainopatia é umas das formas mais frequentes de Distrofia Muscular das Cinturas (LGMD), de transmissão autossómica recessiva. Clinicament
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::b38f267cb578edf204ffc134232983d4
https://hdl.handle.net/10400.18/859
https://hdl.handle.net/10400.18/859
Autor:
Maia, Nuno
Dissertação apresentada à Universidade de Aveiro para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Biologia Molecular e Celular, realizada sob a orientação científica da Doutora Márcia Oliveira, Assistente Princip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::6bc3882d810e69e053815176a915de6c
https://hdl.handle.net/10400.18/626
https://hdl.handle.net/10400.18/626
Introduction: Mutations in the gene CAPN3 are responsible for calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A), one of the most frequent forms of LGMD. The gene CAPN3 codes for calpain-3 (or CAPN3), a muscle-specific calcium-dependent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::443819f23af2fe82b5c3b1064a3e454f
https://hdl.handle.net/10400.18/652
https://hdl.handle.net/10400.18/652
Introdução: As Distrofias Musculares são um grupo de doenças musculares hereditárias, genotipicamente e fenotipicamente heterogéneo, envolvendo normalmente o músculo esquelético (1). Actualmente, estão identificados 18 genes associados a um
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::15fa97a003343ca27735e51ab7c272af
https://hdl.handle.net/10400.18/653
https://hdl.handle.net/10400.18/653