|
1
|
Mutations of optineurin in amyotrophic lateral sclerosis.
|
Nature
|
2010
|
4.54
|
|
2
|
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.
|
Arch Neurol
|
2004
|
1.58
|
|
3
|
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
|
Am J Hum Genet
|
2003
|
1.24
|
|
4
|
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.
|
Mov Disord
|
2009
|
1.22
|
|
5
|
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.
|
Neurology
|
2013
|
1.09
|
|
6
|
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.
|
J Neurol Sci
|
2009
|
1.01
|
|
7
|
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data.
|
BMC Bioinformatics
|
2010
|
1.00
|
|
8
|
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.
|
Am J Med Genet
|
2002
|
0.96
|
|
9
|
Cytotoxic edema in neuro-Behcet's disease ?
|
Intern Med
|
2008
|
0.95
|
|
10
|
Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease.
|
Neurosci Lett
|
2002
|
0.87
|
|
11
|
Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy.
|
Mov Disord
|
2002
|
0.87
|
|
12
|
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
|
Mov Disord
|
2006
|
0.86
|
|
13
|
Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients.
|
PLoS One
|
2011
|
0.84
|
|
14
|
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.
|
Neurobiol Aging
|
2011
|
0.81
|
|
15
|
Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series.
|
J Med Case Rep
|
2011
|
0.80
|
|
16
|
The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.
|
J Neurol Sci
|
2007
|
0.79
|
|
17
|
The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population.
|
Parkinsonism Relat Disord
|
2011
|
0.78
|
|
18
|
The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.
|
Mov Disord
|
2012
|
0.78
|
|
19
|
DYT6 in Japan-genetic screening and clinical characteristics of the patients.
|
Mov Disord
|
2013
|
0.76
|
|
20
|
Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system.
|
Am J Neurodegener Dis
|
2013
|
0.75
|
|
21
|
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
|
Neurosci Lett
|
2004
|
0.75
|
|
22
|
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
|
Eur J Hum Genet
|
2008
|
0.75
|
|
23
|
Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.
|
Hiroshima J Med Sci
|
2011
|
0.75
|
|
24
|
[Ultrasonographic evaluation of bow hunter's syndrome].
|
Nihon Naika Gakkai Zasshi
|
2004
|
0.75
|
|
25
|
Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.
|
Am J Med Genet B Neuropsychiatr Genet
|
2004
|
0.75
|
|
26
|
[A case of late onset mitochondrial neuromyopathy].
|
Nihon Ronen Igakkai Zasshi
|
2002
|
0.75
|
|
27
|
[Causative Genes for Amyotrophic Lateral Sclerosis].
|
Brain Nerve
|
2016
|
0.75
|
|
28
|
Oromandibular dystonia associated with SCA36.
|
Mov Disord
|
2013
|
0.75
|