Search details
1.
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.
J Hum Genet
; 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38811808
2.
Ingestion of a collagen peptide containing high concentrations of prolyl-hydroxyproline and hydroxyprolyl-glycine reduces advanced glycation end products levels in the skin and subcutaneous blood vessel walls: a randomized, double-blind, placebo-controlled study.
Biosci Biotechnol Biochem
; 87(8): 883-889, 2023 Jul 24.
Article
in English
| MEDLINE | ID: mdl-37245058
3.
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.
J Hum Genet
; 66(8): 805-811, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-33692494
4.
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
J Hum Genet
; 65(9): 717-725, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32341455
5.
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
Hum Mol Genet
; 24(22): 6552-63, 2015 Nov 15.
Article
in English
| MEDLINE | ID: mdl-26307087
6.
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.
Hum Genome Var
; 11(1): 3, 2024 Jan 15.
Article
in English
| MEDLINE | ID: mdl-38221525
7.
A trial of topiramate for patients with hereditary spinocerebellar ataxia.
Clin Case Rep
; 11(2): e6980, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36855409
8.
Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.
Biomedicines
; 11(4)2023 Apr 04.
Article
in English
| MEDLINE | ID: mdl-37189713
9.
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.
Front Genet
; 14: 1155998, 2023.
Article
in English
| MEDLINE | ID: mdl-37303947
10.
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia.
Hum Genome Var
; 9(1): 4, 2022 Jan 27.
Article
in English
| MEDLINE | ID: mdl-35082294
11.
Dermal advanced glycation end-product accumulation is associated with sarcopenia-related measures in middle-aged and older men.
Arch Gerontol Geriatr
; 101: 104704, 2022.
Article
in English
| MEDLINE | ID: mdl-35461167
12.
A Japanese family with dystonia due to a pathogenic variant in SGCE.
Hum Genome Var
; 9(1): 29, 2022 Aug 22.
Article
in English
| MEDLINE | ID: mdl-35995778
13.
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.
Neurogenetics
; 12(1): 25-31, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-20857310
14.
Plasma amino acids in patients with essential tremor.
Clin Case Rep
; 9(8): e04580, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34429988
15.
A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.
Hum Genome Var
; 8(1): 21, 2021 May 25.
Article
in English
| MEDLINE | ID: mdl-34035234
16.
Unilateral lower limb atrophy associated with glomus tumors: a case report.
J Med Case Rep
; 15(1): 8, 2021 Jan 13.
Article
in English
| MEDLINE | ID: mdl-33436045
17.
Vascular endothelial dysfunction associated with severity in multiple sclerosis.
Mult Scler Relat Disord
; 54: 103135, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34274738
18.
Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia.
Biosci Rep
; 41(2)2021 02 26.
Article
in English
| MEDLINE | ID: mdl-33600578
19.
Combined treatment with prednisolone and tacrolimus for myasthenia gravis with invasive thymoma.
Acta Neurol Belg
; 110(1): 107-9, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20514937
20.
Bilateral parkinsonism in a patient with infarcts involving the unilateral basal ganglia.
eNeurologicalSci
; 21: 100291, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33251345