SCI-E

Synofzik, M., Ronchi, D., Keskin, I., Başak, A.N., Wilhelm, C., Gobbi, C., Birve, A., Biskup, S., Zecca, C., Fernandez-Santiago, R., Kaugesaar, T., Schols, L., Marklund, S.L., Andersen, P.M., “Mutant superoxide dismutase-1 indistinguishable from wild-type causes” ALS Human Molecular Genetics, 21, 16, 3568-3574, 2012.

Türkçe

Steffens, M., Leu, C., Ruppert, A.K., Çağlayan, H. et al., “Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32”, Human Molecular Genetics, 21, 24, 5359-5372, 2012.

Türkçe

Salar, S., Yeni, N., Gündüz, A., Güler, A., Gökçay, A., Velioğlu, S., Gündoğdu, A., Çağlayan, S.H., “Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families”, Epilepsy Research, 98, 2-3, 273-276, 2012.

Türkçe

Lohmann, E., Köroğlu, C., Hanağası, H.A., Dursun, B., Taşan, E., Tolun, A., “A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood”, Parkinsonism & Related Disorders, 18, 2, 191-193, 2012.

Türkçe

Lahut, S., Omur, O., Uyan, O., Ağım, Z.S., Özoğuz, A., Parman, Y., Deymeer, F., Oflazer, P., Koç, F., Özcelik, H., Auburger, G., Başak, A.N., “ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population”, Plos One, 7, 8, Article Number: e42956, 2012.

Türkçe

Sayfalar