dc.contributor.author | GÜLTEKİN, MURAT | |
dc.contributor.author | Kirimtay, Koray | |
dc.contributor.author | Temizci, Benan | |
dc.contributor.author | Yapici, Zuhal | |
dc.contributor.author | Karabay Korkmaz, Arzu | |
dc.date.accessioned | 2021-03-02T15:45:16Z | |
dc.date.available | 2021-03-02T15:45:16Z | |
dc.identifier.citation | Kirimtay K., Temizci B., GÜLTEKİN M., Yapici Z., Karabay Korkmaz A., "Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay", BRAIN RESEARCH, cilt.1750, 2021 | |
dc.identifier.issn | 0006-8993 | |
dc.identifier.other | av_b81b5c2b-48b9-4521-98f6-8c7438e8eed8 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/1655 | |
dc.identifier.uri | https://doi.org/10.1016/j.brainres.2020.147167 | |
dc.description.abstract | Background: Kufor-Rakeb Syndrome (KRS) is an autosomal recessive disease characterized by Parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy. KRS is caused by mutations in ATP13A2 producing a transmembrane protein responsible for the regulation of intracellular inorganic cations. | |
dc.language.iso | eng | |
dc.subject | General Neuroscience | |
dc.subject | Neuroscience (miscellaneous) | |
dc.subject | Sensory Systems | |
dc.subject | Human-Computer Interaction | |
dc.subject | Life Sciences | |
dc.subject | Physical Sciences | |
dc.subject | NEUROSCIENCES | |
dc.subject | Sinirbilim ve Davranış | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Temel Bilimler | |
dc.subject | Developmental Neuroscience | |
dc.subject | Cellular and Molecular Neuroscience | |
dc.subject | Cognitive Neuroscience | |
dc.title | Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay | |
dc.type | Makale | |
dc.relation.journal | BRAIN RESEARCH | |
dc.contributor.department | İstanbul Teknik Üniversitesi , , | |
dc.identifier.volume | 1750 | |
dc.contributor.firstauthorID | 2504237 | |