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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

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Title: Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Authors: Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Angelova PR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Rodriguez JA; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salazar-Villacorta A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong SAR, China., Jaconelli M; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany., Esteras N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemistry Research Institute, Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain., Mammana A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Shimazu J; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Kwong AK; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Courtin T; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Alavi S; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Nirujogi R; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Monfrini E; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Lewis PA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Royal Veterinary College, London, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Lis P; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Pinon C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Breedveld GJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Chui MM; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Pitz V; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Makarious MB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Baiardi S; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Volin M; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Cassar M; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Hassan BA; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Iftikhar S; Department of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany., Bauer P; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Svetel M; Movement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia., Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hanağası HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilgiç B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Cavallieri F; Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Santangelo M; Department of Neurology, Carpi Hospital, Carpi (MO), Italy., Obeso JA; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; HM CINAC, Hospital Universitario HM Puerta del Sur, HM Hospitales, Madrid, Spain.; University CEU-San Pablo, Madrid, Spain., Kurtis MM; Neurology Department, Hospital Ruber Internacional, Madrid, Spain., Cogan G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Kiziltan G; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Gül-Demirkale T; Research Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey., Tireli H; Vocational School, İstanbul Nisantasi University, Istanbul, Turkey., Yüksel GA; Department of Neurology, Haydarpasa Numune Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Yalçın-Cakmakli G; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Elibol B; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey., Barišić N; University of Zagreb Medical School, Department of Pediatric Clinical Medical Centre Split, Polyclinic Aviva Zagreb, Croatia., Ng EW; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fan SS; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Hershkovitz T; The Genetics Institute, Galilee Medical Center, Nahariya, Israel., Weiss K; Genetics Institute, Rambam Health Care Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel., Alvi JR; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Alkhawaja IA; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan., Froukh T; Department of Biotechnology and Genetics Engineering, Philadelphia University, Amman, Jordan., Alrukban HAE; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Zöggeler T; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Varghese V; All Wales Medical Genomics Service, Cardiff, United Kingdom., Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom., Blauwendraat C; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hardy JA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Di Fonzo A; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy., Bonifati V; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Bertoli-Avella AM; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Başak AN; Research Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey., Steinfeld R; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany., Parchi P; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Jepson JEC; Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alessi DR; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Brice A; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., Steller H; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Corporate Authors: PSMF1 Study Group
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jul 21. Date of Electronic Publication: 2025 Jul 21.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 39148840
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Magrinelli+F%22">Magrinelli F</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Tesson+C%22">Tesson C</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Angelova+PR%22">Angelova PR</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rodriguez+JA%22">Rodriguez JA</searchLink>; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Scardamaglia+A%22">Scardamaglia A</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22O'Callaghan+B%22">O'Callaghan B</searchLink>; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lowe+SA%22">Lowe SA</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Salazar-Villacorta+A%22">Salazar-Villacorta A</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chung+BH%22">Chung BH</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Jaconelli+M%22">Jaconelli M</searchLink>; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Esteras+N%22">Esteras N</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemistry Research Institute, Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mammana+A%22">Mammana A</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Shimazu+J%22">Shimazu J</searchLink>; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Kwong+AK%22">Kwong AK</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Alavi+S%22">Alavi S</searchLink>; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Nirujogi+R%22">Nirujogi R</searchLink>; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Monfrini+E%22">Monfrini E</searchLink>; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Rocca+C%22">Rocca C</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lewis+PA%22">Lewis PA</searchLink>; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Royal Veterinary College, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Buchert+R%22">Buchert R</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Sofan+L%22">Sofan L</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lis+P%22">Lis P</searchLink>; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pinon+C%22">Pinon C</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Breedveld+GJ%22">Breedveld GJ</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Chui+MM%22">Chui MM</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Murphy+D%22">Murphy D</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pitz+V%22">Pitz V</searchLink>; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Makarious+MB%22">Makarious MB</searchLink>; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Baiardi+S%22">Baiardi S</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Volin+M%22">Volin M</searchLink>; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Cassar+M%22">Cassar M</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hassan+BA%22">Hassan BA</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Iftikhar+S%22">Iftikhar S</searchLink>; Department of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Bauer+P%22">Bauer P</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Tinazzi+M%22">Tinazzi M</searchLink>; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Svetel+M%22">Svetel M</searchLink>; Movement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Samanci+B%22">Samanci B</searchLink>; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Hanağası+HA%22">Hanağası HA</searchLink>; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Bilgiç+B%22">Bilgiç B</searchLink>; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Cavallieri+F%22">Cavallieri F</searchLink>; Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Santangelo+M%22">Santangelo M</searchLink>; Department of Neurology, Carpi Hospital, Carpi (MO), Italy.<br /><searchLink fieldCode="AU" term="%22Obeso+JA%22">Obeso JA</searchLink>; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; HM CINAC, Hospital Universitario HM Puerta del Sur, HM Hospitales, Madrid, Spain.; University CEU-San Pablo, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Kurtis+MM%22">Kurtis MM</searchLink>; Neurology Department, Hospital Ruber Internacional, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Cogan+G%22">Cogan G</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kiziltan+G%22">Kiziltan G</searchLink>; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gül-Demirkale+T%22">Gül-Demirkale T</searchLink>; Research Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tireli+H%22">Tireli H</searchLink>; Vocational School, İstanbul Nisantasi University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Yüksel+GA%22">Yüksel GA</searchLink>; Department of Neurology, Haydarpasa Numune Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Yalçın-Cakmakli+G%22">Yalçın-Cakmakli G</searchLink>; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Elibol+B%22">Elibol B</searchLink>; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Barišić+N%22">Barišić N</searchLink>; University of Zagreb Medical School, Department of Pediatric Clinical Medical Centre Split, Polyclinic Aviva Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Ng+EW%22">Ng EW</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Fan+SS%22">Fan SS</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Hershkovitz+T%22">Hershkovitz T</searchLink>; The Genetics Institute, Galilee Medical Center, Nahariya, Israel.<br /><searchLink fieldCode="AU" term="%22Weiss+K%22">Weiss K</searchLink>; Genetics Institute, Rambam Health Care Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.<br /><searchLink fieldCode="AU" term="%22Alkhawaja+IA%22">Alkhawaja IA</searchLink>; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Froukh+T%22">Froukh T</searchLink>; Department of Biotechnology and Genetics Engineering, Philadelphia University, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Alrukban+HAE%22">Alrukban HAE</searchLink>; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Fauth+C%22">Fauth C</searchLink>; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Schatz+UA%22">Schatz UA</searchLink>; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Zöggeler+T%22">Zöggeler T</searchLink>; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Zech+M%22">Zech M</searchLink>; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.<br /><searchLink fieldCode="AU" term="%22Stals+K%22">Stals K</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Varghese+V%22">Varghese V</searchLink>; All Wales Medical Genomics Service, Cardiff, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gandhi+S%22">Gandhi S</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Blauwendraat+C%22">Blauwendraat C</searchLink>; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hardy+JA%22">Hardy JA</searchLink>; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Di+Fonzo+A%22">Di Fonzo A</searchLink>; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bonifati+V%22">Bonifati V</searchLink>; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Bertoli-Avella+AM%22">Bertoli-Avella AM</searchLink>; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Lesage+S%22">Lesage S</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Başak+AN%22">Başak AN</searchLink>; Research Center for Translational Medicine - Neurodegeneration Research Laboratory (KUTTAM-NDAL), School of Medicine, Koç University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Steinfeld+R%22">Steinfeld R</searchLink>; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Parchi+P%22">Parchi P</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Jepson+JEC%22">Jepson JEC</searchLink>; Department of Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alessi+DR%22">Alessi DR</searchLink>; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Brice+A%22">Brice A</searchLink>; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Steller+H%22">Steller H</searchLink>; Strang Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Abramov+AY%22">Abramov AY</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bhatia+KP%22">Bhatia KP</searchLink>; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2025 Jul 21. <i>Date of Electronic Publication: </i>2025 Jul 21.
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1101/2024.06.19.24308302
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              Text: 2025 Jul 21
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