Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.

التفاصيل البيبلوغرافية
العنوان:	Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.
المؤلفون:	Indelicato E; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Schlieben LD; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA., Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Skorvanek M; Department of Neurology, P. J. Safarik University, Kosice, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia., Necpal J; 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 121 08, Prague, Czech Republic., Winkelmann J; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Prokisch H; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany., Zech M; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany. michael.zech@mri.tum.de.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany. michael.zech@mri.tum.de.; Institute for Advanced Study, Technical University of Munich, Lichtenbergstrasse 2 a, 85748, Garching, Germany. michael.zech@mri.tum.de.
المصدر:	Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4685-4692. Date of Electronic Publication: 2024 May 22.
نوع المنشور:	Letter
اللغة:	English
بيانات الدورية:	Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: Berlin ; New York, Springer-Verlag
مواضيع طبية MeSH:	Mitochondrial Diseases/genetics , Mitochondrial Diseases/diagnosis , Dystonia/genetics , Dystonia/diagnosis, Humans ; Male ; Female ; Adult ; Movement Disorders/genetics ; Movement Disorders/diagnosis ; Movement Disorders/physiopathology ; Middle Aged ; Mutation ; Adolescent
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تواريخ الأحداث:	Date Created: 20240522 Date Completed: 20240709 Latest Revision: 20240728
رمز التحديث:	20240728
مُعرف محوري في PubMed:	PMC11233361
DOI:	10.1007/s00415-024-12447-5
PMID:	38775934
قاعدة البيانات:	MEDLINE

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تدمد:	1432-1459
DOI:	10.1007/s00415-024-12447-5