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Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

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Title: Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Authors: Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., Krenn M; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Kittke V; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Danis M; Neurological Clinic of Faculty Hospital Trnava and Slovak Health University Bratislava, Bratislava, Slovakia., Krastev G; Neurological Clinic of Faculty Hospital Trnava and Slovak Health University Bratislava, Bratislava, Slovakia., Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Pichon V; CRMR Neurogenetique, Service de Neurologie, Centre Hospitalier, Universitaire d'Angers, Angers, France., Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares,' FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Scherer C; CRMR Neurogenetique, Service de Neurologie, Centre Hospitalier, Universitaire d'Angers, Angers, France., Dzinovic I; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia., Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Silvaieh S; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Grisold A; Department of Neurology, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna, Vienna, Austria., Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland., de Sainte Agathe JM; Department of Medical Genetics, Sorbonne Université, AP-HP Sorbonne Université, Paris, France.; Laboratoire de Biologie Médicale Multi-Site SeqOIA, Sorbonne Université, Paris, France., Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; DZPG (German Center for Mental Health), Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Necpal J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.; Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital, Zvolen, Slovakia., Jech R; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague, Czech Republic., Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Jul; Vol. 40 (7), pp. 1388-1400. Date of Electronic Publication: 2025 Apr 25.
Publication Type: Journal Article; Case Reports
Journal Info: 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
Database: MEDLINE Ultimate
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Description
ISSN:1531-8257
DOI:10.1002/mds.30209