PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Autor: 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., Salazar-Villacorta A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Rodriguez JA; 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., 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., 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., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alavi S; 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., Lewis PA; Royal Veterinary College, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; 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., 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., 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., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., 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., 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., Başak AN; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Kiziltan G; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey., Gül T; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey., Yalçın 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; Department of Pediatrics, University of Zagreb Medical School and University Hospital Center Zagreb, 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., Raza Alvi J; 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., Azmi Alkhawaja I; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan., Froukh T; Department of Biotechnology and Genetics Engineering, Philadelphia University, Jordan., E Alrukban HA; 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., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., 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 Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany., Bertoli-Avella AM; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany., Steinfeld R; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany., Alessi DR; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom., Steller H; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA., Brice A; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France., 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.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jun 20. Date of Electronic Publication: 2024 Jun 20.

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Autor: Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany., Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Herebian D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Peralta S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kienzle I; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Falb R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Müller A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beck-Woedel S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kern J; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany., Daliri K; Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Institute for Neurophysiology, University of Cologne, Medical Faculty, Cologne, Germany., Katibeh P; Child Developmental Center, Shiraz University of Medical Sciences, Shiraz, Iran., Danhauser K; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany., Leiz S; Pediatric Neurology, Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany., Alesi V; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Baertling F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Vasco G; Department of Neuroscience and Neurorehabilitation, Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Steinfeld R; University Children's Hospital Zurich, Zurich, Switzerland., Wagner M; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Helmholtz Zentrum Muenchen, Deutsches Forschungszentrum fuer Gesundheit und Umwelt (GmbH), Neuherberg, Germany., Caglayan AO; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey., Gumus H; Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey., Burmeister M; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA., Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Tamhankar PM; Centre for Medical Genetics, Mulund, Mumbai, India., Tamhankar V; Centre for Medical Genetics, Mulund, Mumbai, India., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, 4056 Basel, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Bonnen PE; Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Groeschel S; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany., Krägeloh-Mann I; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Disease, University of Tübingen, Tübingen, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany Felix.Distelmaier@med.uni-duesseldorf.de.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Sep; Vol. 59 (9), pp. 878-887. Date of Electronic Publication: 2021 Oct 16.

CD9 and folate receptor overexpression are not sufficient for VSV-G-independent lentiviral transduction.

Autor: Bellotti C; Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Stäuble A; Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Steinfeld R; Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Publikováno v: PloS one [PLoS One] 2022 Mar 10; Vol. 17 (3), pp. e0264642. Date of Electronic Publication: 2022 Mar 10 (Print Publication: 2022).

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Autor: Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic. Electronic address: mskorvanek@gmail.com., Rektorova I; First Department of Neurology, Faculty of Medicine, St. Anne's University Hospital, and CEITEC, Masaryk University, Brno, Czech Republic., Mandemakers W; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, Netherlands., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Steinfeld R; Division of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland., Orec L; Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Pavelekova P; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Lackova A; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Kulcsarova K; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Gdovinova Z; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Brunet T; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Kuipers DJS; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, Netherlands., Boumeester V; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, Netherlands., Havrankova P; Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Tijssen MAJ; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, Netherlands., Kaiyrzhanov R; University College London, Institute of Neurology, Department of Neuromuscular Disorders, Queen Square, WC1N 3BG, London, UK., Rizig M; University College London, Institute of Neurology, Department of Neuromuscular Disorders, Queen Square, WC1N 3BG, London, UK., Houlden H; University College London, Institute of Neurology, Department of Neuromuscular Disorders, Queen Square, WC1N 3BG, London, UK., Winkelmann J; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Bonifati V; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, Netherlands., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Jech R; Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Jan; Vol. 94, pp. 54-61. Date of Electronic Publication: 2021 Dec 02.

Preoperative clinical symptomatology and stroke burden in pediatric moyamoya angiopathy: Defining associated risk variables.

Autor: Hackenberg A; Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Switzerland; Moyamoya Center, University Children's Hospital, University of Zurich, Switzerland. Electronic address: Annette.Hackenberg@kispi.uzh.ch., Battilana B; Moyamoya Center, University Children's Hospital, University of Zurich, Switzerland., Hebeisen M; Moyamoya Center, University Children's Hospital, University of Zurich, Switzerland; Department of Biostatistics, Institute of Epidemiology, Biostatistics and Prevention, University of Zurich, Switzerland., Steinfeld R; Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Switzerland., Khan N; Moyamoya Center, University Children's Hospital, University of Zurich, Switzerland.

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Nov; Vol. 35, pp. 130-136. Date of Electronic Publication: 2021 Oct 19.