Atıf İçin Kopyala
Sen N. E., Drost J., Gispert S., Torres-Odio S., Damrath E., Klinkenberg M., ...Daha Fazla
NEUROBIOLOGY OF DISEASE, cilt.96, ss.115-126, 2016 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
96
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Basım Tarihi:
2016
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Doi Numarası:
10.1016/j.nbd.2016.09.002
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Dergi Adı:
NEUROBIOLOGY OF DISEASE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.115-126
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Anahtar Kelimeler:
Mitochondrial dynamics, Autophagy, Ribosomal translation, RNA processing, Parkinsonism, Neurodegeneration, LEVODOPA-RESPONSIVE PARKINSONISM, LENGTH POLYGLUTAMINE EXPANSIONS, CENTRAL SOMATOSENSORY SYSTEM, LATERAL-SCLEROSIS RISK, TYPE-2 SCA2, CONSISTENT AFFECTION, REPEAT EXPANSIONS, SACCADE VELOCITY, INSULIN-RECEPTOR, SPINOCEREBELLAR
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Dokuz Eylül Üniversitesi Adresli:
Evet
Özet
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson's disease (PD).