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Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Akman, H Orhan; Kakhlon, Or; Coku, Jorida; Peverelli, Lorenzo; Rosenmann, Hanna; Rozenstein-Tsalkovich, Lea; Turnbull, Julie; Meiner, Vardiella; Chama, Liat; Lerer, Israela; Shpitzen, Shoshi; Leitersdorf, Eran; Paradas, Carmen; Wallace, Mary; Schiffmann, Raphael; DiMauro, Salvatore; Lossos, Alexander; Minassian, Berge A.
Afiliação
  • Akman HO; Houston Merritt Neuromuscular Disease Research Center, Columbia University Medical Center, New York, New York.
  • Kakhlon O; The Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Coku J; Houston Merritt Neuromuscular Disease Research Center, Columbia University Medical Center, New York, New York.
  • Peverelli L; Houston Merritt Neuromuscular Disease Research Center, Columbia University Medical Center, New York, New York.
  • Rosenmann H; The Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Rozenstein-Tsalkovich L; The Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Turnbull J; Program in Genetics and Genome Biology, Department of Pediatrics (Neurology), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Chama L; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Lerer I; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Shpitzen S; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Leitersdorf E; Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Paradas C; Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Virgen del Rocío, Instituto de Biomédicina de Sevilla, Consejo Superior de Investigaciónes Científicas, Universidad de Sevilla, Seville, Spain.
  • Wallace M; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas.
  • Schiffmann R; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas.
  • DiMauro S; Houston Merritt Neuromuscular Disease Research Center, Columbia University Medical Center, New York, New York.
  • Lossos A; The Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Minassian BA; Program in Genetics and Genome Biology, Department of Pediatrics (Neurology), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
JAMA Neurol ; 72(4): 441-5, 2015 Apr.
Article em En | MEDLINE | ID: mdl-25665141
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Sistema da Enzima Desramificadora do Glicogênio / Enzima Ramificadora de 1,4-alfa-Glucana / Mutação / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Sistema da Enzima Desramificadora do Glicogênio / Enzima Ramificadora de 1,4-alfa-Glucana / Mutação / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2015 Tipo de documento: Article