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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Helman, Guy; Zarekiani, Parand; Tromp, Samantha A M; Andrews, Ashley; Botto, Lorenzo D; Bonkowsky, Joshua L; Chassevent, Anna; Giorgio, Elisa; Pippucci, Tommaso; Wei, Shen; Smith-Hicks, Constance; Vaula, Giovanna; Willemsen, Michèl A A P; Schimmel, Mareike; Vollert, Kurt; Shimizu, Fumitaka; Kanda, Takashi; Lynch, Matthew; Roscioli, Tony; Taft, Ryan J; Simons, Cas; Bugiani, Marianna; Kuijpers, Taco W; van der Knaap, Marjo S.
Affiliation
  • Helman G; Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia.
  • Zarekiani P; Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
  • Tromp SAM; Department of Pathology, Amsterdam University Medical Centers, VU University Amsterdam and Amsterdam Neuroscience, Amsterdam, HV, The Netherlands.
  • Andrews A; Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, DD, The Netherlands.
  • Botto LD; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Centers, Academic Medical Center, University of Amsterdam, Amsterdam, DD, The Netherlands.
  • Bonkowsky JL; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, DD, The Netherlands.
  • Chassevent A; Division of Medical Genetics, University of Utah, Salt Lake City, UT.
  • Giorgio E; Division of Medical Genetics, University of Utah, Salt Lake City, UT.
  • Pippucci T; Division of Pediatric Neurology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
  • Wei S; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
  • Smith-Hicks C; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Vaula G; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Willemsen MAAP; U.O. Genetica Medica, IRCCS Azienda Ospedaliero - Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
  • Schimmel M; Clinical Genome Sequencing Laboratory, Mayo Clinic, Rochester, MN.
  • Vollert K; The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD.
  • Shimizu F; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Kanda T; Department of Neuroscience, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.
  • Lynch M; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roscioli T; Division of Pediatric Neurology, Childrens's Hospital, University Hospital Augsburg, Augsburg, Germany.
  • Taft RJ; Department of Diagnostic Radiology and Neuroradiology - Pediatric Radiology Section, University Hospital Augsburg, Augsburg, Germany.
  • Simons C; Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan.
  • Bugiani M; Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan.
  • Kuijpers TW; Neurosciences Unit, Queensland Children's Hospital, Brisbane, Australia.
  • van der Knaap MS; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, Australia.
Ann Neurol ; 92(5): 895-901, 2022 11.
Article de En | MEDLINE | ID: mdl-35947102
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dysplasie ectodermique / Leucoencéphalopathies Limites: Humans Langue: En Journal: Ann Neurol Année: 2022 Type de document: Article Pays d'affiliation: Australie Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dysplasie ectodermique / Leucoencéphalopathies Limites: Humans Langue: En Journal: Ann Neurol Année: 2022 Type de document: Article Pays d'affiliation: Australie Pays de publication: États-Unis d'Amérique