Atıf İçin Kopyala
Yapici Z., Akcakaya N. H., Tekturk P., Iseri S. A. U., Ozbek U.
Brain & development, cilt.38, sa.8, ss.755-8, 2016 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
38
Sayı:
8
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Basım Tarihi:
2016
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Doi Numarası:
10.1016/j.braindev.2016.02.010
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Dergi Adı:
Brain & development
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.755-8
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Anahtar Kelimeler:
Jaw-opening dystonia, Pantothenate kinase-associated neurodegeneration, PANK2, Compound heterozygousity, "Eye-of-the-tiger", KINASE-ASSOCIATED NEURODEGENERATION
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Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli:
Hayır
Özet
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible.