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

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Meta-analytic support vector machine for integrating multiple omics data

(2017) SungHwan Kim et al.   BioData Mining

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms

(2016) Mukesh Gautam et al.   HUMAN MOLECULAR 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

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

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

(2014) Y.-T. Liu et al.   NEUROLOGY

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

(2012) Sarah Wiethoff et al.   BMC 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

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Kinesin superfamily motor proteins and intracellular transport

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