Atıf İçin Kopyala
Kirimtay K., Temizci B., GÜLTEKİN M., Yapici Z., Karabay Korkmaz A.
BRAIN RESEARCH, cilt.1750, 2021 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
1750
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Basım Tarihi:
2021
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Doi Numarası:
10.1016/j.brainres.2020.147167
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Dergi Adı:
BRAIN RESEARCH
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Animal Behavior Abstracts, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo, Veterinary Science Database
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Erciyes Üniversitesi Adresli:
Evet
Özet
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.