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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Kurolap, Alina; Kreuder, Florian; Gonzaga-Jauregui, Claudia; Duvdevani, Morasha Plesser; Harel, Tamar; Tammer, Luna; Xin, Baozhong; Bakhtiari, Somayeh; Rice, James; van Eyk, Clare L; Gecz, Jozef; Mah, Jean K; Atkinson, Derek; Cope, Heidi; Sullivan, Jennifer A; Douek, Alon M; Colquhoun, Daniel; Henry, Jason; Wlodkowic, Donald; Parman, Yesim; Candayan, Ayse; Kocasoy-Orhan, Elif; Ilivitzki, Anat; Soudry, Shiri; Leibu, Rina; Glaser, Fabian; Sency, Valerie; Ast, Gil; Shashi, Vandana; Fahey, Michael C; Battaloglu, Esra; Jordanova, Albena; Meiner, Vardiella; Innes, A Micheil; Wang, Heng; Elpeleg, Orly; Kruer, Michael C; Kaslin, Jan; Baris Feldman, Hagit.
Afiliação
  • Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel.
  • Kreuder F; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
  • Duvdevani MP; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
  • Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
  • Tammer L; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Xin B; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA.
  • Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine -
  • Rice J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
  • van Eyk CL; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia.
  • Gecz J; Paediatric Rehabilitation, Women's and Children's Hospital, Adelaide, SA 5006, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
  • Mah JK; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Atkinson D; Max Planck Institute of Immunobiology and Epigenetics, Freiburg 79108, Germany; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
  • Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
  • Douek AM; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia.
  • Colquhoun D; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia.
  • Henry J; School of Science, RMIT University, Melbourne, VIC 3000, Australia.
  • Wlodkowic D; School of Science, RMIT University, Melbourne, VIC 3000, Australia.
  • Parman Y; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.
  • Candayan A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey.
  • Kocasoy-Orhan E; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel.
  • Ilivitzki A; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Pediatric Radiology Unit, Rambam Health Care Campus, Haifa 3525408, Israel.
  • Soudry S; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel.
  • Leibu R; Department of Ophthalmology, Rambam Healthcare Campus, Haifa 3525408, Israel.
  • Glaser F; The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion - Israel Institute of Technology, Haifa 3200003, Israel.
  • Sency V; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA.
  • Ast G; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
  • Fahey MC; Department of Pediatrics, Monash University, Melbourne, VIC 3800, Australia.
  • Battaloglu E; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul 34342, Turkey.
  • Jordanova A; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2000, Belgium; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria.
  • Meiner V; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
  • Innes AM; Department of Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary,
  • Wang H; DDC Clinic - Center for Special Needs Children, Middlefield, OH 44062, USA.
  • Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
  • Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine -
  • Kaslin J; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC 3800, Australia.
  • Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel; The Genetics Institute, Rambam Health Care Campus, Haifa 3525408, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525428, Israel; Sackler Fa
Am J Hum Genet ; 109(3): 518-532, 2022 03 03.
Article em En | MEDLINE | ID: mdl-35108495
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2022 Tipo de documento: Article