De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

(2014) Jae-Ran Lee et al.   HUMAN MUTATION

KIF1A mutation in a patient with progressive neurodegeneration

(2014) Nobuhiko Okamoto et al.   JOURNAL OF HUMAN GENETICS

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

(2012) Stephan Klebe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

(2011) Jean-Baptiste Rivière et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease

(2010) Nobutaka Hirokawa et al.   NEURON

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Structural model for strain-dependent microtubule activation of Mg-ADP release from kinesin

(2008) Ryo Nitta et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY