Your browser doesn't support javascript.
loading
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L.
Afiliação
  • Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Cai Y; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Lo B; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
  • Helman G; Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA.
  • Taylor H; Program in Cellular Neuroscience Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT, USA.
  • McCartney A; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA.
  • Leslie JS; Research Branch, Sidra Medicine, Doha, Qatar.
  • Accogli A; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
  • Zara F; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.
  • Traverso M; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Fasham J; Department of Surgery and Cancer, Imperial College London, London, UK.
  • Lees JA; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
  • Ferla MP; Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA.
  • Chioza BA; Program in Cellular Neuroscience Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT, USA.
  • Wenger O; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA.
  • Scott E; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Cross HE; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Crawford J; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Warshawsky I; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Keisling M; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Agamanolis D; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
  • Ward Melver C; Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA.
  • Cox H; Wellcome Centre Human Genetics, University of Oxford, Oxford, UK.
  • Elawad M; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Marton T; New Leaf Center, Mt. Eaton, OH, USA.
  • Wakeling MN; New Leaf Center, Mt. Eaton, OH, USA.
  • Holzinger D; Department of Ophthalmology, University of Arizona College of Medicine, Tucson, AZ, USA.
  • Tippelt S; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Munteanu M; Akron Children's Hospital, Akron, OH, USA.
  • Valcheva D; Akron Children's Hospital, Akron, OH, USA.
  • Deal C; Akron Children's Hospital, Akron, OH, USA.
  • Van Meerbeke S; Akron Children's Hospital, Akron, OH, USA.
  • Walsh Vockley C; West Midlands Clinical Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.
  • Butte MJ; Department of Gastroenterology, Sidra Medicine, Doha, Qatar.
  • Acar U; West Midlands Perinatal Pathology, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK.
  • van der Knaap MS; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Korenke GC; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.
  • Kotzaeridou U; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.
  • Balla T; Institute for Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Simons C; Department of Pediatrics, Sana Kliniken Duisburg, Germany.
  • Uhlig HH; Division of Pediatric Allergy and Immunology, Children's Hospital of Pittsburgh, UPMC, Pittsburgh, USA.
  • Crosby AH; Division of Pediatric Allergy and Immunology, Children's Hospital of Pittsburgh, UPMC, Pittsburgh, USA.
  • De Camilli P; Division of Genetic and Genomic Medicine, Children's Hospital of Pittsburgh, UPMC, Pittsburgh, USA.
  • Wolf NI; Department of Paediatrics, Division of Immunology, Allergy, and Rheumatology, UCLA, Los Angeles, CA, USA.
  • Baple EL; Department of Paediatrics, Division of Immunology, Allergy, and Rheumatology, UCLA, Los Angeles, CA, USA.
Brain ; 144(12): 3597-3610, 2021 12 31.
Article em En | MEDLINE | ID: mdl-34415310
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Antígenos de Histocompatibilidade Menor / Fosfotransferases (Aceptor do Grupo Álcool) / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Doenças da Imunodeficiência Primária / Atresia Intestinal Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Antígenos de Histocompatibilidade Menor / Fosfotransferases (Aceptor do Grupo Álcool) / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Doenças da Imunodeficiência Primária / Atresia Intestinal Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido