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Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.
Schottmann, Gudrun; Jungbluth, Heinz; Schara, Ulrike; Knierim, Ellen; Morales Gonzalez, Susanne; Gill, Esther; Seifert, Franziska; Norwood, Fiona; Deshpande, Charu; von Au, Katja; Schuelke, Markus; Senderek, Jan.
Afiliação
  • Schottmann G; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Jungbluth H; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Schara U; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Knierim E; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Morales Gonzalez S; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Gill E; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Seifert F; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Norwood F; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Deshpande C; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • von Au K; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Schuelke M; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
  • Senderek J; From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's H
Neurology ; 84(5): 523-31, 2015 Feb 03.
Article em En | MEDLINE | ID: mdl-25568292
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Axônios / Fatores de Transcrição / Doenças do Sistema Nervoso Periférico / Proteínas de Ligação a DNA / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Axônios / Fatores de Transcrição / Doenças do Sistema Nervoso Periférico / Proteínas de Ligação a DNA / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Neurology Ano de publicação: 2015 Tipo de documento: Article