A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

(2015) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

(2015) M. Scoto et al.   NEUROLOGY

Performance comparison of four commercial human whole-exome capture platforms

(2015) Daichi Shigemizu et al.   Scientific Reports

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

(2014) Ellen Cottenie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

(2014) Y.-T. Liu et al.   NEUROLOGY

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

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

Autism

(2009) Susan E Levy et al.   LANCET