Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Autor: Kiesel AS; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Baumann S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Reich S; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Pauly MG; Department of Neurology/ Institute of Neurogenetics, University of Lübeck, 23562 Lübeck  Germany., Brüggemann N; Department of Neurology/ Institute of Neurogenetics, University of Lübeck, 23562 Lübeck  Germany., Münchau A; Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany., Oleksiuk O; Hertie Institute for Clinical Brain Research (HIH) and Centre for Integrative Neuroscience (CIN) Imaging Cluster, University of Tübingen, 72076 Tübingen, Germany., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Peralta S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Jazyk: angličtina
Zdroj: Brain : a journal of neurology [Brain] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.
DOI: 10.1093/brain/awae402
Databáze: MEDLINE