KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

(2018) En-Lin Dong et al.   Molecular Neurodegeneration

Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2017) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

(2017) Sara Morais et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

(2017) M. Krenn et al.   EUROPEAN JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia: More than an upper motor neuron disease

(2017) L. Parodi et al.   REVUE NEUROLOGIQUE

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

(2017) Zafar Iqbal et al.   PLoS One

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

(2017) Chong Kun Cheon et al.   Scientific Reports

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Molecular Motor KIF1A Transports the TrkA Neurotrophin Receptor and Is Essential for Sensory Neuron Survival and Function

(2016) Yosuke Tanaka et al.   NEURON

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

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

Kinesin superfamily proteins (KIFs): Various functions and their relevance for important phenomena in life and diseases

(2015) Nobutaka Hirokawa et al.   EXPERIMENTAL CELL RESEARCH

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

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

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

(2015) Andrea Citterio et al.   JOURNAL OF NEUROLOGY

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

Dimerization of mammalian kinesin-3 motors results in superprocessive motion

(2014) V. Soppina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

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

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

The CC1-FHA Tandem as a Central Hub for Controlling the Dimerization and Activation of Kinesin-3 KIF1A

(2012) Lin Huo et al.   STRUCTURE

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

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mechanisms of kinesin motor motility: lessons from the monomeric motor KIF1A

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