Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

by Udhaya H Kotecha, Sireesha Movva, Deepak Sharma, Jyotsna Verma, Ratna Dua Puri, Ishwar Chander Verma
Published 2014-01-01

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

by Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Published 2020-12-01

Two unusual cases of PLA2G6-associated neurodegeneration from India

by Shilpa D Kulkarni, Meenal Garg, Rafat Sayed, Varsha A Patil
Published 2016-01-01