| 1 | KIF1A, MRD9
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| De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
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| Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
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| J Hum Genet Hum Genet. 2015 Sep 10. doi: 10.1038/jhg.2015.108. [Epub ahead of print]
2015
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| 2 | KIF1A, MRD9
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| De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
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| Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH.
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| Ann Clin Transl Neurol 2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1.
2015
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| 3 | KIF1A, MRD9
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| De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
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| Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH.
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| Ann Clin Transl Neurol 2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1.
2015
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| 4 | KIF1A, MRD9
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| De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
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| Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL.
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| Hum Mutat 36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.
2015
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