Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Saved in:
Bibliographic Details
Title: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Authors: Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France., Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France., Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey., Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia., Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey., Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil., Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil., Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey., Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey., Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey., Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey., Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan., Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan., Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates., Zifarelli G; CENTOGENE GmbH, Rostock, Germany., Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan., Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands., Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics., Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA., Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom., Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil., Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil., Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil., Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil., Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil., Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia., Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom., Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom., Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.
Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 14; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2025).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1558-8238
DOI:10.1172/JCI184474