Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

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 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

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

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

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons

(2011) K.Y. Lo et al.   NEUROSCIENCE LETTERS

Mammalian Kinesin-3 Motors Are Dimeric In Vivo and Move by Processive Motility upon Release of Autoinhibition

(2009) Jennetta W Hammond et al.   PLOS BIOLOGY