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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Rebelo, Adriana P; Cortese, Andrea; Abraham, Amit; Eshed-Eisenbach, Yael; Shner, Gal; Vainshtein, Anna; Buglo, Elena; Camarena, Vladimir; Gaidosh, Gabriel; Shiekhattar, Ramin; Abreu, Lisa; Courel, Steve; Burns, Dennis K; Bai, Yunhong; Bacon, Chelsea; Feely, Shawna M E; Castro, Diana; Peles, Elior; Reilly, Mary M; Shy, Michael E; Zuchner, Stephan.
Afiliação
  • Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Cortese A; MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Abraham A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Eshed-Eisenbach Y; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
  • Shner G; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
  • Vainshtein A; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
  • Buglo E; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
  • Camarena V; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Gaidosh G; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Shiekhattar R; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Abreu L; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, USA.
  • Courel S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Burns DK; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, USA.
  • Bai Y; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Bacon C; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
  • Feely SME; Department of Pathology, UT Southwestern Medical Center, Dallas, Texas, USA.
  • Castro D; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Peles E; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Reilly MM; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, USA.
  • Shy ME; Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, USA.
  • Zuchner S; Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
Brain ; 144(4): 1197-1213, 2021 05 07.
Article em En | MEDLINE | ID: mdl-33889941
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulinas / Doença de Charcot-Marie-Tooth / Moléculas de Adesão Celular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulinas / Doença de Charcot-Marie-Tooth / Moléculas de Adesão Celular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos