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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh, Sahar; Madou, Maura R Z; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E; Smaoui, Nizar; Pappas, John G; Burrow, Thomas A; McDonald, Marie T; Latibashvili, Mariam; Leshinsky-Silver, Esther; Lev, Dorit; Blumkin, Luba; Vale, Ronald D; Barkovich, Anthony James; Sherr, Elliott H.
Afiliação
  • Esmaeeli Nieh S; Department of Neurology, University of California San Francisco, California, 94158.
  • Madou MR; Department of Neurology, University of California San Francisco, California, 94158.
  • Sirajuddin M; Department of Cellular and Molecular Pharmacology and the Howard Hughes Medical Institute, University of California San Francisco, California ; Cardiovascular Biology and Diseases, Institute of Stem Cell Biology and Regenerative Medicine, NCBS-TIFR Bangalore, India.
  • Fregeau B; Department of Neurology, University of California San Francisco, California, 94158.
  • McKnight D; GeneDx Gaithersburg, Maryland.
  • Lexa K; Department of Pharmaceutical Chemistry, University of California San Francisco San Francisco, California.
  • Strober J; Department of Neurology, University of California San Francisco, California, 94158.
  • Spaeth C; Division of Human Genetics, Cincinnati Children's Hospital Medical Center Cincinnati, Ohio.
  • Hallinan BE; Division of Neurology, Cincinnati Children's Hospital Medical Center Cincinnati, Ohio.
  • Smaoui N; GeneDx Gaithersburg, Maryland.
  • Pappas JG; Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine New York, New York.
  • Burrow TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center Cincinnati, Ohio ; Department of pediatrics, University of Cincinnati School of Medicine Cincinnati, Ohio.
  • McDonald MT; Section of Medical Genetics, Department of Pediatrics, Duke University Durham, North Carolina.
  • Latibashvili M; Department of Neurology, University of California San Francisco, California, 94158 ; University of California San Diego, California.
  • Leshinsky-Silver E; Molecular Genetics Laboratory, and Metabolic-Neurogenetic Service, Wolfson Medical Center and Sackler Medical School, Tel Aviv University Tel Aviv, Israel.
  • Lev D; Institute of Medical Genetics and Metabolic Neurogenetic Service, Wolfson Medical Center and Sackler Medical School, Tel Aviv University Tel Aviv, Israel.
  • Blumkin L; Pediatric Neurology Unit and Metabolic Neurogenetic Service, Wolfson Medical Center, Holon and Sackler Medical School, Tel Aviv University Tel Aviv, Israel.
  • Vale RD; Department of Cellular and Molecular Pharmacology and the Howard Hughes Medical Institute, University of California San Francisco, California.
  • Barkovich AJ; Department of Radiology and Biomedical Imaging, University of California San Francisco, California.
  • Sherr EH; Department of Neurology, University of California San Francisco, California, 94158.
Ann Clin Transl Neurol ; 2(6): 623-35, 2015 Jun.
Article em En | MEDLINE | ID: mdl-26125038
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article