Genotype-phenotype correlations of KIF5A stalk domain variants

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

(2019) Ewelina Elert-Dobkowska et al.   NEUROGENETICS

Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation

(2019) Mohammed Faruq et al.   CLINICAL GENETICS

Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2

(2019) Jing He et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

(2019) Kornélia Tripolszki et al.   Frontiers in Genetics

Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

(2019) Carlos Pablo de Fuenmayor-Fernández de la Hoz et al.   BRAIN

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

(2018) Xiaoming Jia et al.   ANNALS OF NEUROLOGY

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Mutation screening of theKIF5Agene in Chinese patients with amyotrophic lateral sclerosis

(2018) XiaoJing Gu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

MiR-125b promotes tau phosphorylation by targeting the neural cell adhesion molecule in dementia progression

(2018) Linyu Zhang et al.   NEUROBIOLOGY OF AGING

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia

(2018) Yusen Qiu et al.   Annals of Clinical and Translational Neurology

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

(2018) L. Citrigno et al.   ACTA NEUROLOGICA BELGICA

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

(2018) Marta Simone et al.   Frontiers in Neurology

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

Wide phenotypic spectrum in axonal Charcot–Marie–Tooth neuropathy type 2 patients with KIF5A mutations

(2017) Da Eun Nam et al.   Genes & Genomics

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

(2017) Maike F. Dohrn et al.   JOURNAL OF NEUROCHEMISTRY

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

(2017) Cheick O. Guinto et al.   Annals of Clinical and Translational Neurology

KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

(2016) Jessica Duis et al.   ANNALS OF NEUROLOGY

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

(2016) Paulo Victor Sgobbi de Souza et al.   CEREBELLUM

KIF5A de novomutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

(2016) M. Rydzanicz et al.   CLINICAL GENETICS

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

(2016) Seiji Kaji et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

(2015) David S Lynch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

(2015) Daniyal Daud et al.   JOURNAL OF NEUROLOGY

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy

(2015) Eva López et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

(2014) M. Muglia et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Y.-T. Liu et al.   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

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

(2012) N. Collongues et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

(2011) C Crimella et al.   CLINICAL GENETICS

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

(2010) C. Crimella et al.   JOURNAL OF MEDICAL GENETICS

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

(2010) Olimpia Musumeci et al.   NEUROLOGICAL SCIENCES

Kinesin superfamily motor proteins and intracellular transport

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

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

SPG10 is a rare cause of spastic paraplegia in European families

(2008) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Intracellular Transport and Kinesin Superfamily Proteins, KIFs: Structure, Function, and Dynamics

(2008) Nobutaka Hirokawa et al.   PHYSIOLOGICAL REVIEWS