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Items: 35

1.

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene.

Hirano M, Samukawa M, Isono C, Saigoh K, Nakamura Y, Kusunoki S.

Neurol Genet. 2018 Aug 1;4(4):e252. doi: 10.1212/NXG.0000000000000252. eCollection 2018 Aug.

2.

PSP-Phenotype in SCA8: Case Report and Systemic Review.

Samukawa M, Hirano M, Saigoh K, Kawai S, Hamada Y, Takahashi D, Nakamura Y, Kusunoki S.

Cerebellum. 2018 Jun 19. doi: 10.1007/s12311-018-0955-0. [Epub ahead of print]

PMID:
29916049
3.

Tau accumulation in two patients with frontotemporal lobe degeneration showing different types of aphasia using 18F-THK-5351 positron emission tomography: a case report.

Takaya M, Ishii K, Hosokawa C, Saigoh K, Shirakawa O.

Int Psychogeriatr. 2018 May;30(5):641-646. doi: 10.1017/S1041610217002277. Epub 2017 Nov 8.

PMID:
29113604
4.

Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.

Hirano M, Yamagishi Y, Yanagimoto S, Saigoh K, Nakamura Y, Kusunoki S.

Eur Neurol. 2017;78(1-2):78-83. doi: 10.1159/000478906. Epub 2017 Jul 24.

PMID:
28738334
5.

Diagnosis of Parkinson's disease and the level of oxidized DJ-1 protein.

Yamagishi Y, Saigoh K, Saito Y, Ogawa I, Mitsui Y, Hamada Y, Samukawa M, Suzuki H, Kuwahara M, Hirano M, Noguchi N, Kusunoki S.

Neurosci Res. 2018 Mar;128:58-62. doi: 10.1016/j.neures.2017.06.008. Epub 2017 Jul 10.

PMID:
28705587
6.

Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene.

Hirano M, Matsumura R, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Inoue H, Kusunoki S.

J Neurol Sci. 2017 Jul 15;378:75-79. doi: 10.1016/j.jns.2017.04.049. Epub 2017 Apr 29.

PMID:
28566184
7.

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.

Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N, Yamamoto Y, Saigoh K, Kusunoki S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H.

Clin Genet. 2017 Dec;92(6):659-663. doi: 10.1111/cge.13037. Epub 2017 Jul 20.

PMID:
28422281
8.

Oxidation and interaction of DJ-1 with 20S proteasome in the erythrocytes of early stage Parkinson's disease patients.

Saito Y, Akazawa-Ogawa Y, Matsumura A, Saigoh K, Itoh S, Sutou K, Kobayashi M, Mita Y, Shichiri M, Hisahara S, Hara Y, Fujimura H, Takamatsu H, Hagihara Y, Yoshida Y, Hamakubo T, Kusunoki S, Shimohama S, Noguchi N.

Sci Rep. 2016 Jul 29;6:30793. doi: 10.1038/srep30793.

9.

A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.

Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptáček LJ, Fu YH.

Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):E1536-44. doi: 10.1073/pnas.1600039113. Epub 2016 Feb 22.

10.

Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis.

Saigoh K, Yoshimura S, Izumikawa T, Miyata S, Tabara Y, Matsushita T, Miki T, Miyamoto K, Hirano M, Kitagawa H, Kira J, Kusunoki S.

Neurosci Res. 2016 Jul;108:55-9. doi: 10.1016/j.neures.2016.01.002. Epub 2016 Jan 20.

PMID:
26806424
11.

Successful Combination of Pallidal and Thalamic Stimulation for Intractable Involuntary Movements in Patients with Neuroacanthocytosis.

Nakano N, Miyauchi M, Nakanishi K, Saigoh K, Mitsui Y, Kato A.

World Neurosurg. 2015 Oct;84(4):1177.e1-7. doi: 10.1016/j.wneu.2015.06.052. Epub 2015 Jul 9.

PMID:
26165146
12.

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.

Saigoh K, Mitsui J, Hirano M, Shioyama M, Samukawa M, Ichikawa Y, Goto J, Tsuji S, Kusunoki S.

Parkinsonism Relat Disord. 2015 Mar;21(3):332-4. doi: 10.1016/j.parkreldis.2014.12.028. Epub 2015 Jan 3. No abstract available.

PMID:
25595316
13.

VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation.

Hirano M, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Isono C, Mitsui Y, Kusunoki S.

Neurobiol Aging. 2015 Mar;36(3):1604.e1-6. doi: 10.1016/j.neurobiolaging.2014.10.012. Epub 2014 Oct 16.

PMID:
25457024
14.

A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia.

Miyoshi Y, Yoshioka Y, Suzuki K, Miyazaki T, Koura M, Saigoh K, Kajimura N, Monobe Y, Kusunoki S, Matsuda J, Watanabe M, Hayasaka N.

PLoS One. 2014 Sep 24;9(9):e107867. doi: 10.1371/journal.pone.0107867. eCollection 2014.

15.

[The significance of oxidized DJ-1 protein (oxDJ-1) as a biomarker for Parkinson's disease].

Ogawa I, Saito Y, Saigoh K, Hosoi Y, Mitsui Y, Noguchi N, Kusunoki S.

Brain Nerve. 2014 Apr;66(4):471-7. Japanese.

PMID:
24748095
16.

Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.

Sakamoto H, Akamatsu M, Hirano M, Saigoh K, Ueno S, Isono C, Kusunoki S, Nakamura Y.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):312-4. doi: 10.3109/21678421.2013.873051. Epub 2014 Mar 10.

PMID:
24611504
17.

A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.

Izumikawa T, Saigoh K, Shimizu J, Tsuji S, Kusunoki S, Kitagawa H.

Biochim Biophys Acta. 2013 Oct;1830(10):4806-12. doi: 10.1016/j.bbagen.2013.06.017. Epub 2013 Jun 27.

PMID:
23811343
18.

Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation.

Ogawa I, Saigoh K, Hirano M, Mtsui Y, Sugioka K, Takahashi J, Shimomura Y, Tani Y, Nakamura Y, Kusunoki S.

Parkinsonism Relat Disord. 2013 Oct;19(10):913-5. doi: 10.1016/j.parkreldis.2013.05.012. Epub 2013 Jun 5. No abstract available.

PMID:
23746940
19.

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.

Hirano M, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Isono C, Miyamoto K, Akamatsu M, Mitsui Y, Kusunoki S.

Neurology. 2013 Jan 29;80(5):458-63. doi: 10.1212/WNL.0b013e31827f0fe5. Epub 2013 Jan 9.

PMID:
23303844
20.

Circadian expression and specific localization of a sialyltransferase gene in the suprachiasmatic nucleus.

Hamada Y, Saigoh K, Masumoto KH, Nagano M, Kusunoki S, Shigeyoshi Y.

Neurosci Lett. 2013 Feb 22;535:12-7. doi: 10.1016/j.neulet.2012.12.032. Epub 2013 Jan 5.

PMID:
23298785
21.

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.

Hirano M, Kokunai Y, Nagai A, Nakamura Y, Saigoh K, Kusunoki S, Takahashi MP.

J Neurol Sci. 2011 Oct 15;309(1-2):9-11. doi: 10.1016/j.jns.2011.07.046. Epub 2011 Aug 19.

PMID:
21855088
22.

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.

Saigoh K, Izumikawa T, Koike T, Shimizu J, Kitagawa H, Kusunoki S.

J Hum Genet. 2011 Feb;56(2):143-6. doi: 10.1038/jhg.2010.148. Epub 2010 Dec 16.

PMID:
21160489
23.

[Case of Gerstmann-Sträussler-Scheinker syndrome (GSS-P102L) mimicking variant Creurtzfeldt-Jakob disease in clinical manifestation and MRI findings].

Kanata A, Saigoh K, Mitsui Y, Kitamoto T, Kusunoki S.

Rinsho Shinkeigaku. 2008 Mar;48(3):179-83. Japanese.

PMID:
18409537
24.

Lamin B1 duplications cause autosomal dominant leukodystrophy.

Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH.

Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3. Erratum in: Nat Genet. 2007 Feb;39(2):276.

PMID:
16951681
25.

[Internal ophthalmoplegia in acute oropharyngeal palsy with anti-GQ1b and anti-GT1a IgG antibodies].

Yamaji K, Atsumi M, Saigoh K, Kuzumoto Y, Sada M, Hirakawa M, Morita D, Mitsui Y.

No To Shinkei. 2005 Jun;57(6):523-6. Japanese.

PMID:
16026049
26.

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.

Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH.

Nature. 2005 Mar 31;434(7033):640-4.

PMID:
15800623
27.

[Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with relapsing multiple sclerosis].

Nakasaka Y, Atsumi M, Saigoh K, Yamada A, Hirose N, Ishikawa K.

No To Shinkei. 2005 Jan;57(1):51-5. Review. Japanese.

PMID:
15782601
28.

YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes.

Wang Y, Saigoh K, Osaka H, Yamanishi T, Suh J, Kiyosawa H, Sakai Y, Wakana S, Wada K.

Genomics. 2000 Jun 15;66(3):333-6.

PMID:
10873389
29.

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice.

Saigoh K, Wang YL, Suh JG, Yamanishi T, Sakai Y, Kiyosawa H, Harada T, Ichihara N, Wakana S, Kikuchi T, Wada K.

Nat Genet. 1999 Sep;23(1):47-51.

PMID:
10471497
30.

The stereo-specific effect of D-serine ethylester and the D-cycloserine in ataxic mutant mice.

Saigoh K, Matsui K, Takahashi K, Nishikawa T, Wada K.

Brain Res. 1998 Oct 12;808(1):42-7.

PMID:
9795125
31.

Detection of hepatitis B virus x transcripts in human hepatocellular carcinoma tissues.

Kobayashi S, Saigoh Ki, Urashima T, Asano T, Isono K.

J Surg Res. 1997 Dec;73(2):97-100.

PMID:
9441800
32.

An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice.

Suh JG, Ichihara N, Saigoh K, Nakabayashi O, Yamanishi T, Tanaka K, Wada K, Kikuchi T.

Neuroscience. 1997 Aug;79(3):735-44.

PMID:
9219937
33.

[Frequent PCR detection of HBV x gene in excised hepatocellular carcinoma tissues as compared with HCV-RNA identification].

Kobayashi S, Saigoh K, Urashima T, Endoh M, Matsusita K, Katoh M, Asano T, Isono K.

Nihon Rinsho. 1995 Oct;53 Suppl(Pt 2):730-4. Japanese. No abstract available.

PMID:
12442475
34.

[Recurrence and prognosis of hepatitis C virus-related hepatocellular carcinoma--as compared with hepatitis B virus-related cases].

Kobayashi S, Asano T, Saigoh K, Urashima T, Okazumi S, Abe Y, Takayama W, Isono K.

Nihon Rinsho. 1995 Sep;53 Suppl(Pt 1):810-4. Japanese. No abstract available.

PMID:
7563881
35.

Significance of hepatitis-B and hepatitis-C viral sequences frequently detected in hepatocellular-carcinoma tissues.

Kobayashi S, Saigoh K, Urashima T, Asano T, Isono K.

Oncol Rep. 1994 Nov;1(6):1049-53.

PMID:
21607489

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