Your browser doesn't support javascript.
loading
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz, Kyle A; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M; Wagner, Bart E; Rosenfeld, Jill A; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E; Wang, Tim Sen; Haberlandt, Edda D; Anderson, Glenn W; Leshinsky-Silver, Esther; Bi, Weimin; Markello, Thomas C; Pratt, Marsha; Makhseed, Nawal; Garnica, Adolfo; Danylchuk, Noelle R; Burrow, Thomas A; Jayakar, Parul; McKnight, Dianalee; Agadi, Satish; Gbedawo, Hatha; Stanley, Christine; Alber, Michael; Prehl, Isabelle; Peariso, Katrina; Ong, Min Tsui; Mordekar, Santosh R; Parker, Michael J; Crooks, Daniel; Agrawal, Pankaj B; Berry, Gerard T; Loddenkemper, Tobias; Yang, Yaping; Maegawa, Gustavo H B; Aouacheria, Abdel; Markle, Janet G; Wohlschlegel, James A; Hartman, Adam L; Hardwick, J Marie.
Afiliação
  • Metz KA; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
  • Teng X; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
  • Coppens I; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.
  • Lamb HM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
  • Wagner BE; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
  • Rosenfeld JA; Histopathology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Chen X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Zhang Y; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.
  • Kim HJ; Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu Province, People's Republic of China.
  • Meadow ME; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.
  • Wang TS; Department of Biological Chemistry, David Geffen School of Medicine at UCLA, Los Angeles, CA.
  • Haberlandt ED; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
  • Anderson GW; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Leshinsky-Silver E; Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
  • Bi W; Department of Child and Youth Health, Hospital of Dornbirn, Dornbirn, Austria.
  • Markello TC; Histopathology Department, Great Ormond Street Hospital for Children, London, United Kingdom.
  • Pratt M; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.
  • Makhseed N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Garnica A; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
  • Danylchuk NR; Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, OK.
  • Burrow TA; Department of Pediatrics, Jahra Hospital, Ministry of Health, Al Jahra, Kuwait.
  • Jayakar P; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.
  • McKnight D; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.
  • Agadi S; Department of Pediatrics, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR.
  • Gbedawo H; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL.
  • Stanley C; GeneDx, Gaithersburg, MD.
  • Alber M; Department of Neurology, Texas Children's Hospital, Houston, TX.
  • Prehl I; Vital Kids Medicine, Seattle, WA.
  • Peariso K; Courtagen Life Sciences, Woburn, MA.
  • Ong MT; Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.
  • Mordekar SR; Practice for Human Genetics, CeGaT, Tübingen, Germany.
  • Parker MJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
  • Crooks D; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.
  • Agrawal PB; Department of Paediatric Neurology, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.
  • Berry GT; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service Foundation Trust, Sheffield, United Kingdom.
  • Loddenkemper T; Department of Neuropathology, Walton Centre National Health Service Foundation Trust, Liverpool, United Kingdom.
  • Yang Y; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Maegawa GHB; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Aouacheria A; Department of Neurology, Boston Children's Hospital, Boston, MA.
  • Markle JG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Wohlschlegel JA; Department of Pediatrics/Genetics and Metabolism, University of Florida, Gainesville, FL.
  • Hartman AL; Montpellier Institute of Evolution Sciences, University of Montpellier, CNRS, EPHE, IRD, Montpellier, France.
  • Hardwick JM; Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD.
Ann Neurol ; 84(5): 766-780, 2018 11.
Article em En | MEDLINE | ID: mdl-30295347
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autofagia / Canais de Potássio / Doenças Neurodegenerativas / Lisossomos Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autofagia / Canais de Potássio / Doenças Neurodegenerativas / Lisossomos Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article