Your browser doesn't support javascript.
loading
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H.
Afiliação
  • Tolonen JP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Parolin Schnekenberg R; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK.
  • McGowan S; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Sims D; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.
  • McEntagart M; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Elmslie F; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Shears D; South West Regional Genetics Service, St. George's University Hospitals, London, UK.
  • Stewart H; South West Regional Genetics Service, St. George's University Hospitals, London, UK.
  • Tofaris GK; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.
  • Dabir T; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.
  • Morrison PJ; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Johnson D; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK.
  • Hadjivassiliou M; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
  • Ellard S; Patrick G. Johnston Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK.
  • Shaw-Smith C; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Znaczko A; Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospital NHS Foundation Trust, Sheffield, UK.
  • Dixit A; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, UK.
  • Suri M; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Sarkar A; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Jones G; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Houlden H; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Ceravolo G; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Jarvis J; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Williams J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Shanks ME; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Clouston P; Unit of Pediatric Emergency, Department of Adult and Childhood Human Pathology, University Hospital of Messina, Messina, Italy.
  • Rankin J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Blumkin L; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lerman-Sagie T; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Ponger P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Raskin S; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Granath K; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Uusimaa J; Pediatric Movement Disorders Service, Pediatric Neurology Unit, Edith Wolfson Medical Center, Holon, Israel.
  • Conti H; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • McCann E; Magen Center for Rare Diseases-Metabolic, Neurogenetic, Wolfson Medical Center, Holon, Israel.
  • Joss S; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Blakes AJM; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Metcalfe K; Genetika Centro de Aconselhamento e Laboratório, Curitiba, Brazil.
  • Kingston H; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Bertoli M; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Kneen R; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.
  • Lynch SA; Liverpool Women's Hospital Foundation Trust, Liverpool, UK.
  • Martínez Albaladejo I; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
  • Moore AP; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Jones WD; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Becker EBE; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Németh AH; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
Mov Disord ; 39(1): 141-151, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37964426
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Aniridia / Ataxia Cerebelar / Anidrases Carbônicas / Deficiência Intelectual / Transtornos dos Movimentos Limite: Humans Idioma: En Ano de publicação: 2024 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: Degenerações Espinocerebelares / Aniridia / Ataxia Cerebelar / Anidrases Carbônicas / Deficiência Intelectual / Transtornos dos Movimentos Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article