المؤلفون: Blakes, Alexander J. M.^{Aff1, Aff2}, Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David^{Aff5, Aff6}, Thomas, N. Simon^{Aff5, Aff6}, Burren, Christine P.^{Aff7, Aff8}, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda^{Aff11, Aff12}, Smithson, Sarah F., Taylor Tavares, Ana Lisa^{Aff12, Aff13}, O’Donovan, Peter, Douglas, Andrew G. L.^{Aff1, Aff14}, Whiffin, Nicola, Baralle, Diana^{Aff1, Aff4}, Lord, Jenny^{Aff1, IDs1307302201087x_cor20}

المصدر: Genome Medicine. 14(1)

المؤلفون: Blakes, Alexander J. M.^{Aff1, Aff2}, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M.^{Aff7, Aff8}, Heller, Raoul, Chase, Andrew, Baralle, Diana^{Aff1, Aff2}, Douglas, Andrew G. L.^{Aff1, Aff2}

المصدر: European Journal of Human Genetics. 29(4):593-603

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المؤلفون: Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7e8a3033826e86773c45c0e85cdaa8

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المؤلفون: Blakes, Alexander J. M., English, Joel, Banka, Siddharth, Basu, Helen

المصدر: American Journal of Medical Genetics. Part A; Feb2022, Vol. 188 Issue 2, p595-599, 5p

المؤلفون: Blakes, Alexander J. M., Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M., Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G. L.

المصدر: European Journal of Human Genetics: EJHG; April 2021, Vol. 29 Issue: 4 p593-603, 11p

المؤلفون: Tolonen JP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Parolin Schnekenberg R; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., McGowan S; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Sims D; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., McEntagart M; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Elmslie F; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Shears D; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Stewart H; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Dabir T; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Morrison PJ; Patrick G. Johnston Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Hadjivassiliou M; Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospital NHS Foundation Trust, Sheffield, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, UK., Shaw-Smith C; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Znaczko A; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, 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 Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Ceravolo G; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Unit of Pediatric Emergency, Department of Adult and Childhood Human Pathology, University Hospital of Messina, Messina, Italy., Jarvis J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Williams J; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shanks ME; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Clouston P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Blumkin L; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Movement Disorders Service, Pediatric Neurology Unit, Edith Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Magen Center for Rare Diseases-Metabolic, Neurogenetic, Wolfson Medical Center, Holon, Israel., Ponger P; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Raskin S; Genetika Centro de Aconselhamento e Laboratório, Curitiba, Brazil., Granath K; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Uusimaa J; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Conti H; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., McCann E; Liverpool Women's Hospital Foundation Trust, Liverpool, UK., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Kingston H; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, UK., Kneen R; Department of Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Martínez Albaladejo I; Neurology in Pediatrics, Hospital Santa Lucía, Murcia, Spain., Moore AP; The Walton Centre NHS Foundation Trust, Liverpool, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street NHS Foundation Trust, London, UK., Becker EBE; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.

مؤلفون مشاركون: Genomics England Research Consortium; Department of Health & Social Care, London, UK.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jan; Vol. 39 (1), pp. 141-151. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia*/genetics , Movement Disorders*/complications , Carbonic Anhydrases*/genetics , Carbonic Anhydrases*/metabolism , Intellectual Disability* , Spinocerebellar Degenerations* , Aniridia*, Humans ; Mutation, Missense/genetics ; Atrophy ; Inositol 1,4,5-Trisphosphate Receptors/chemistry ; Inositol 1,4,5-Trisphosphate Receptors/genetics ; Inositol 1,4,5-Trisphosphate Receptors/metabolism ; Intracellular Signaling Peptides and Proteins/genetics

SCR Disease Name: Aniridia cerebellar ataxia mental deficiency; Spinocerebellar Ataxia 29

المؤلفون: Martin-Geary AC; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Blakes AJM; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Dawes R; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Findlay SD; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA., Lord J; Genomics England, UK., Walker S; Genomics England, UK., Talbot-Martin J; Department of Bioengineering, Imperial College London, UK., Wieder N; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., D'Souza EN; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Fernandes M; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Lahiri N; St George's, University of London & St George's University Hospitals NHS Foundation Trust, Institute of Molecular and Clinical Sciences, London, SW17 0QT, UK., Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., DeGoede CGEL; Department of Paediatric Neurology, Clinical research Facility, Lancashire Teaching Hospitals NHS Trust.; Manchester Metropolitan University., Anderson ER; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Burge CB; Department of Biology, Massachusetts Institute of Technology, Cambridge, USA., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; New York Genome Center, New York, NY, USA., Ellingford J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Whiffin N; Big Data Institute, University of Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 12. Date of Electronic Publication: 2023 Sep 12.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE