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A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.
Surampalli, Abhilasha; Gold, Brian T; Smith, Charles; Castellani, Rudy J; Khare, Manaswitha; Yu, Hon; Nguyen, Celeste; Lan, Mary; Wencel, Marie; Wigal, Sharon; Caiozzo, Vince; Kimonis, Virginia.
Afiliação
  • Surampalli A; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.
  • Gold BT; Departments of Anatomy & Neurobiology, University of Kentucky Medical College, Lexington, KY, USA.
  • Smith C; Department of Neurology, University of Kentucky Medical College, Lexington, KY, USA.
  • Castellani RJ; Division of Neuropathology, University of Maryland School of Medicine, Baltimore, MD, USA.
  • Khare M; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.
  • Yu H; Department of Radiology, University of California Irvine Medical Center, Orange, CA, USA.
  • Nguyen C; Child Development Center, Department of Pediatrics, University of California Irvine, Irvine, CA, USA.
  • Lan M; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.
  • Wencel M; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.
  • Wigal S; Child Development Center, Department of Pediatrics, University of California Irvine, Irvine, CA, USA.
  • Caiozzo V; Departments of Orthopedics, Physiology & Biophysics, University of California Irvine, Irvine, CA, USA.
  • Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA. Electronic address: vkimonis@uci.edu.
Neuromuscul Disord ; 25(2): 177-83, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25582679
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Adenosina Trifosfatases / Proteínas de Ciclo Celular / Miosite de Corpos de Inclusão / Mutação Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Adenosina Trifosfatases / Proteínas de Ciclo Celular / Miosite de Corpos de Inclusão / Mutação Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos