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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
Zhang, Jinglan; Lachance, Véronik; Schaffner, Adam; Li, Xianting; Fedick, Anastasia; Kaye, Lauren E; Liao, Jun; Rosenfeld, Jill; Yachelevich, Naomi; Chu, Mary-Lynn; Mitchell, Wendy G; Boles, Richard G; Moran, Ellen; Tokita, Mari; Gorman, Elizabeth; Bagley, Kaytee; Zhang, Wei; Xia, Fan; Leduc, Magalie; Yang, Yaping; Eng, Christine; Wong, Lee-Jun; Schiffmann, Raphael; Diaz, George A; Kornreich, Ruth; Thummel, Ryan; Wasserstein, Melissa; Yue, Zhenyu; Edelmann, Lisa.
Affiliation
  • Zhang J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Lachance V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Schaffner A; Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Li X; Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Fedick A; Department of Neurology, The Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Kaye LE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Liao J; Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America.
  • Rosenfeld J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Yachelevich N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Chu ML; Clinical Genetics Services, New York University Hospitals Center, New York, New York, United States of America.
  • Mitchell WG; Department of Neurology, New York University School of Medicine, New York, New York, United States of America.
  • Boles RG; Neurology Division, Children's Hospital Los Angeles, Los Angeles, California, United States of America.
  • Moran E; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California, United States of America.
  • Tokita M; Courtagen Life Sciences, Woburn, Massachusetts, United States of America.
  • Gorman E; Clinical Genetics Services, NYU Langone Hospital for Joint Diseases, New York, New York, United States of America.
  • Bagley K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Zhang W; Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America.
  • Xia F; Baylor Miraca Genetics Laboratories, Houston, Texas, United States of America.
  • Leduc M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Schiffmann R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Diaz GA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Kornreich R; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, United States of America.
  • Thummel R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Wasserstein M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
  • Yue Z; Departments of Anatomy/Cell Biology and Ophthalmology, Wayne State University School of Medicine, Detroit, Michigan, United States of America.
  • Edelmann L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
PLoS Genet ; 12(4): e1005848, 2016 Apr.
Article in En | MEDLINE | ID: mdl-27120463
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autophagy / Founder Effect / Vesicular Transport Proteins / Leukoencephalopathies / Genes, Recessive / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2016 Document type: Article Affiliation country: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autophagy / Founder Effect / Vesicular Transport Proteins / Leukoencephalopathies / Genes, Recessive / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2016 Document type: Article Affiliation country: Estados Unidos