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Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao, Feifei; Beecham, Gary W; Rebelo, Adriana P; Svaren, John; Blanton, Susan H; Moran, John J; Lopez-Anido, Camila; Morrow, Jasper M; Abreu, Lisa; Rizzo, Devon; Kirk, Callyn A; Wu, Xingyao; Feely, Shawna; Verhamme, Camiel; Saporta, Mario A; Herrmann, David N; Day, John W; Sumner, Charlotte J; Lloyd, Thomas E; Li, Jun; Yum, Sabrina W; Taroni, Franco; Baas, Frank; Choi, Byung-Ok; Pareyson, Davide; Scherer, Steven S; Reilly, Mary M; Shy, Michael E; Züchner, Stephan.
Afiliação
  • Tao F; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
  • Beecham GW; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
  • Rebelo AP; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
  • Svaren J; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
  • Blanton SH; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
  • Moran JJ; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
  • Lopez-Anido C; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
  • Morrow JM; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
  • Abreu L; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
  • Rizzo D; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
  • Kirk CA; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
  • Wu X; Department of Neurology, University of Iowa, Iowa City, IA.
  • Feely S; Department of Neurology, University of Iowa, Iowa City, IA.
  • Verhamme C; Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands.
  • Saporta MA; Department of Neurology, University of Miami, Miami, FL.
  • Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY.
  • Day JW; Department of Neurology, Stanford University, Palo Alto, CA.
  • Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Lloyd TE; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Li J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Yum SW; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Taroni F; Department of Neurology, Wayne State University School of Medicine, Detroit, MI.
  • Baas F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Choi BO; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Pareyson D; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Scherer SS; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Reilly MM; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
  • Shy ME; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Züchner S; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
Ann Neurol ; 85(3): 316-330, 2019 03.
Article em En | MEDLINE | ID: mdl-30706531
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Debilidade Muscular / Proteínas Ativadoras de GTPase / Genes Modificadores / Pé Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Debilidade Muscular / Proteínas Ativadoras de GTPase / Genes Modificadores / Pé Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article