Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis
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T. Matsukawa | S. Tsuji | S. Morishita | A. Tamaoka | H. Ishiura | Yuji Takahashi | J. Goto | J. Mitsui | T. Toda | J. Yoshimura | K. Doi | K. Sakuishi | H. Naruse | K. Nakamagoe | Z. Miyake
[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.