Unverricht-Lundborg Disease in Turkey: Delineating The Phenotype Between Cystatin B Mutation Positive and Negative Cases

ERDİNÇ, OĞUZ; Joensuu, Tarja; Ilgen-Uslu, Ferda; Bebek, Nerses; Ozkara, Cigdem; Tutkavul, Kemal; GÜNDÜZ, Ayşegül; Lehesjoki, Anna-Elina; BAYKAL, Betül

Unverricht-Lundborg Disease in Turkey: Delineating The Phenotype Between Cystatin B Mutation Positive and Negative Cases

ERDİNÇ O. O., Joensuu T., Ilgen-Uslu F., Bebek N., Ozkara C., Tutkavul K., ...Daha Fazla

JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH, cilt.27, sa.1, ss.1-11, 2010 (SCI-Expanded, Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 27 Sayı: 1
Basım Tarihi: 2010
Dergi Adı: JOURNAL OF NEUROLOGICAL SCIENCES-TURKISH
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.1-11
Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Objective: We herein report the first three genetically proven Unverricht-Lundborg disease (ULD) patients in Turkey and their clinical comparisons with eight CSTB mutation negative patients who were suspected to have ULD.