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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy Lee, Jae-Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So-Hee; Brunel-Guitton, Catherine; Decarie, Jean-Claude; et al, HUMAN MUTATION, v.36, no.1, pp.69 - 78, 2015-01 |
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia Ylikallio, Emil; Kim, Doyoun; Isohanni, Pirjo; Auranen, Mari; Kim, Eunjoon; Lonnqvist, Tuula; Tyynismaa, Henna, EUROPEAN JOURNAL OF HUMAN GENETICS, v.23, no.10, pp.1427 - 1430, 2015-10 |
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