Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

[1]  Deepak Kumar,et al.  Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation , 2019, Clinical genetics.

[2]  T. Matsukawa,et al.  Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS , 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

[3]  Timothy A. Miller,et al.  Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic , 2018 .

[4]  T. Matsukawa,et al.  Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation , 2018, Neurobiology of Aging.

[5]  H. Braak,et al.  Hot-spot KIF5A mutations cause familial ALS , 2018, Brain : a journal of neurology.

[6]  Madhusoodanan Mottamal,et al.  Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia , 2017, PloS one.

[7]  N. Scolding,et al.  Axonal motor protein KIF5A and associated cargo deficits in multiple sclerosis lesional and normal‐appearing white matter , 2017, Neuropathology and applied neurobiology.

[8]  Robert H. Brown,et al.  Decoding ALS: from genes to mechanism , 2016, Nature.

[9]  Matthew A. White,et al.  Amyotrophic lateral sclerosis: recent genetic highlights. , 2016, Current opinion in neurology.

[10]  T. Crawford,et al.  KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction , 2016, Annals of neurology.

[11]  R. Takahashi,et al.  Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis , 2016, Journal of the Neurological Sciences.

[12]  Yoshikazu Ugawa,et al.  Valosin-containing protein(VCP)遺伝子変異を認めた家族性筋萎縮性側索硬化症の1例 , 2015 .

[13]  G. Rouleau,et al.  Dissection of genetic factors associated with amyotrophic lateral sclerosis , 2014, Experimental Neurology.

[14]  Philip D. Campbell,et al.  Unique Function of Kinesin Kif5A in Localization of Mitochondria in Axons , 2014, The Journal of Neuroscience.

[15]  D. Hughes,et al.  Extended phenotypic spectrum of KIF5A mutations , 2014, Neurology.

[16]  Robert H. Brown,et al.  ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. , 2013, American journal of human genetics.

[17]  S. Tsuji,et al.  Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course , 2013 .

[18]  S. Tsuji,et al.  C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. , 2012, Archives of neurology.

[19]  N. Bresolin,et al.  Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2 , 2012, Clinical genetics.

[20]  David Heckerman,et al.  A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.

[21]  Y. Itoyama,et al.  Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. , 2008, Archives of neurology.

[22]  J. Hampe,et al.  Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing , 2007, Human mutation.

[23]  M. Pericak-Vance,et al.  A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). , 2002, American journal of human genetics.

[24]  M. Swash,et al.  El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis , 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

[25]  Y. Ugawa,et al.  [A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation]. , 2015, Rinsho shinkeigaku = Clinical neurology.