De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014)

• Record Type: Journal Article
• Authors: Lee, Jae‐Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So‐Hee; Brunel‐Guitton, Catherine; Décarie, Jean‐Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boycott, Kym M.; Rahikkala, Elisa; Junna, Nella; Tyynismaa, Henna; Cuppen, Inge; Verbeek, Nienke E.; Stumpel, Connie T.R.M.; Willemsen, Michel A.; de Munnik, Sonja A.; Rouleau, Guy A.; Kim, Eunjoon; Kamsteeg, Erik‐Jan; Kleefstra, Tjitske; Michaud, Jacques L.
• Is Part Of: Human mutation. Volume 36:Issue 1(2015:Jan.)
• Page Start: 69
• Page End: 78
• Publication Date: 2014-11-27
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22709
• Languages: English
• ISSNs: 1059-7794

Abstract

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