KIF1A Associated Neurological Disorder

KIF1A associated neurological disorder (KAND) is a rare neurodegenerative condition caused by mutations in the KIF1A gene. KAND may present with a wide range and severity of symptoms including stiff or weak leg muscles, low muscle tone, a lack of muscle coordination and balance, and intellectual disability. Find the latest research on KAND here.

January 27, 2021
Open Access

Pathogenic mutations in the kinesin-3 motor KIF1A diminish force generation and movement through allosteric mechanisms.

The Journal of Cell Biology
Breane BudaitisA. Gennerich
September 22, 2020
Open Access

A Highly Conserved 310-Helix Within the Kinesin Motor Domain is Critical for Kinesin Function and Human Health.

BioRxiv : the Preprint Server for Biology
A. J. LamR. J. McKenney
September 10, 2020
Open Access

A CRISPR-based method for testing the essentiality of a gene

Scientific Reports
Yan YouTian Jin
September 3, 2020
Open Access

Pathogenic Mutations in the Kinesin-3 Motor KIF1A Diminish Force Generation and Movement Through Allosteric Mechanisms

BioRxiv : the Preprint Server for Biology
Breane BudaitisA. Gennerich
August 5, 2020
Open Access

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

BMC Neurology
G E RudenskayaA V Polyakov
August 2, 2020

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Journal of Medical Genetics
Francesco NicitaGinevra Zanni
August 2, 2020
Open Access

The neurodevelopmental spectrum of synaptic vesicle cycling disorders.

Journal of Neurochemistry
Abinayah JohnKate Baker
July 29, 2020
Open Access

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder

MedRxiv : the Preprint Server for Health Sciences
Lia BoyleWendy K Chung
July 12, 2020
Open Access

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Human Mutation
Simranpreet KaurJohn Christodoulou
March 17, 2020
Open Access

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity

Frontiers in Genetics
Yi GuoXin Tian
February 26, 2020

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement

Journal of the Peripheral Nervous System : JPNS
Tarishi NemaniPinki Munot
December 6, 2019

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

A E Van BeusichemR J Vermeulen
December 5, 2019
Open Access

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

Italian Journal of Pediatrics
Carlotta SpagnoliCarlo Fusco
November 18, 2019

Analysis of spinal muscular atrophy-like patients by targeted resequencing

Brain & Development
Shinichi HosokawaKayoko Saito
November 9, 2019
Open Access

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

NPJ Genomic Medicine
C L van EykJ Gecz

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