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

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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
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DbLabel: MEDLINE Ultimate
An: 41086021
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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Items – Name: Title
  Label: Title
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  Data: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Dominik+N%22">Dominik N</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Record+CJ%22">Record CJ</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Miao+X%22">Miao X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lin+RQ%22">Lin RQ</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Parmar+JM%22">Parmar JM</searchLink>; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Scardamaglia+A%22">Scardamaglia A</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lowe+SA%22">Lowe SA</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Aughey+GN%22">Aughey GN</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wilson+AD%22">Wilson AD</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Curro+R%22">Curro R</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Schnekenberg+RP%22">Schnekenberg RP</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alavi+S%22">Alavi S</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Leclaire+L%22">Leclaire L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22He+Y%22">He Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zhelcheska+K%22">Zhelcheska K</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bellaïche+Y%22">Bellaïche Y</searchLink>; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.<br /><searchLink fieldCode="AU" term="%22Gaugué+I%22">Gaugué I</searchLink>; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.<br /><searchLink fieldCode="AU" term="%22Skorupinska+M%22">Skorupinska M</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Da'as+SI%22">Da'as SI</searchLink>; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Güngör+S%22">Güngör S</searchLink>; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.<br /><searchLink fieldCode="AU" term="%22Monahan+GV%22">Monahan GV</searchLink>; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Ghayoor+Karimiani+E%22">Ghayoor Karimiani E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jamshidi+Y%22">Jamshidi Y</searchLink>; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lamont+PJ%22">Lamont PJ</searchLink>; Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Armirola-Ricaurte+C%22">Armirola-Ricaurte C</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Topaloglu+H%22">Topaloglu H</searchLink>; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zaman+M%22">Zaman M</searchLink>; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Banu+SH%22">Banu SH</searchLink>; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.<br /><searchLink fieldCode="AU" term="%22Marques+W%22">Marques W</searchLink>; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Tomaselli+PJ%22">Tomaselli PJ</searchLink>; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.<br /><searchLink fieldCode="AU" term="%22Aynekin+B%22">Aynekin B</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Cansu+A%22">Cansu A</searchLink>; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.<br /><searchLink fieldCode="AU" term="%22Per+H%22">Per H</searchLink>; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Güleç+A%22">Güleç A</searchLink>; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+A%22">Khan A</searchLink>; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Zifarelli+G%22">Zifarelli G</searchLink>; CENTOGENE GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Ibrahim+S%22">Ibrahim S</searchLink>; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Mancini+GMS%22">Mancini GMS</searchLink>; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Motazacker+MM%22">Motazacker MM</searchLink>; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Brusse+E%22">Brusse E</searchLink>; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Lupo+V%22">Lupo V</searchLink>; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Sevilla+T%22">Sevilla T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Başak+AN%22">Başak AN</searchLink>; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tekgul+S%22">Tekgul S</searchLink>; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Palvadeau+RJ%22">Palvadeau RJ</searchLink>; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Parman+Y%22">Parman Y</searchLink>; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Çakar+A%22">Çakar A</searchLink>; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.<br /><searchLink fieldCode="AU" term="%22Stahl+JH%22">Stahl JH</searchLink>; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Grundmann-Hauser+K%22">Grundmann-Hauser K</searchLink>; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Laing+NG%22">Laing NG</searchLink>; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Wilson+LA%22">Wilson LA</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rossor+AM%22">Rossor AM</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Polke+J%22">Polke J</searchLink>; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Figueiredo+FB%22">Figueiredo FB</searchLink>; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Pessoa+A%22">Pessoa A</searchLink>; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Coimbra-Neto+AR%22">Coimbra-Neto AR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Franca+MC+Jr%22">Franca MC Jr</searchLink>; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Hamed+SA%22">Hamed SA</searchLink>; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Pittman+AM%22">Pittman AM</searchLink>; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Osborn+DP%22">Osborn DP</searchLink>; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hanna+M%22">Hanna M</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cortese+A%22">Cortese A</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jepson+JE%22">Jepson JE</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lamarche-Vane+N%22">Lamarche-Vane N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2025 Oct 14; Vol. 135 (23). <i>Date of Electronic Publication: </i>2025 Oct 14 (<i>Print Publication: </i>2025).
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        Value: 10.1172/JCI184474
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      – Code: eng
        Text: English
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      – TitleFull: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
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              Text: 2025 Oct 14
              Type: published
              Y: 2025
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            – TitleFull: The Journal of clinical investigation
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ResultId 1