Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

Autor: Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany., Buena-Atienza E; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany., Paul S; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Gandelman M; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Kakar N; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany.; Department of Biotechnology, FLS&I, BUITEMS, Quetta, Pakistan., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zühlke C; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany., Hellenbroich Y; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany., Pozojevic J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany., Balachandran S; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany., Händler K; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany., Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Erdlenbruch F; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Herrmann L; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Feindt T; Practice of Neurology, Magdeburg, Germany., Zenker M; Institute of Human Genetics, University Hospital Magdeburg and Medical Faculty, Otto-von-Guericke University, Magdeburg, Germany., Klopstock T; Department of Neurology with Friedrich-Baur-Institute, University Hospital of Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Scoles DR; Department of Neurology, University of Utah, Salt Lake City, UT, USA., Koeppen A; Veterans Affairs Medical Center, Albany, NY, USA., Spielmann M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Hamburg, Lübeck, Kiel, Lübeck, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Olaf.Riess@med.uni-tuebingen.de.; NGS Competence Center Tübingen, Tübingen, Germany. Olaf.Riess@med.uni-tuebingen.de., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, Tübingen, Germany., Pulst SM; Department of Neurology, University of Utah, Salt Lake City, UT, USA. Stefan.Pulst@hsc.utah.edu.; Clinical Neurosciences Center, University of Utah Hospitals and Clinics, Salt Lake City, UT, USA. Stefan.Pulst@hsc.utah.edu.

Publikováno v: Nature genetics [Nat Genet] 2024 Jun; Vol. 56 (6), pp. 1080-1089. Date of Electronic Publication: 2024 Apr 29.