The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
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| Title: | The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. |
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| Authors: | Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Sudhakar S; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Biswas A; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Massey F; Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Lau T; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Cook E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Alvi JR; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Jewell JL; Department of Paediatric Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Orsini A; Department of Paediatric Neurology, University Hospital of Pisa, 56126 Pisa, Italy., Vignoli A; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Federico Z; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Rosenblum J; Department of Clinical Genetics, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Schoonjans AS; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., de Wachter M; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Delgado Alvarez I; Department of Neuroradiology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Felipe-Rucián A; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut 71515, Egypt., Haider S; Department of Paediatrics, Wah Medical College NUMS, Wah Cantonment, Punjab 47000, Pakistan., Zaman M; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Banu S; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Anwaar N; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Rahman F; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Maqbool S; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Yadav R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Salpietro V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Patel R; Department of Paediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Houston, TX 77030, USA., Radhakrishnan R; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Prabhu SP; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Lichtenbelt K; Department of Clinical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Osaka 565, Japan., Löbel U; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Wakeling E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Jones W; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Hay E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Bhate S; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Jacques TS; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Mirsky DM; Department of Neuroradiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Whitehead MT; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Jansen AC; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Lequin M; Department of Radiology and Nuclear Medicine, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., de Vries LS; Department of Neonatology, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Campeau PM; Department of Paediatrics, CHU Sainte Justine Research Centre, University of Montreal, Montreal QC H3T 1C5, Canada., Houlden H; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., McTague A; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK., Efthymiou S; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Mankad K; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. |
| Source: | Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2775-2790. |
| Publication Type: | Journal Article; Observational Study; Multicenter Study |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awae056 |
