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1 . Academic Journal
DualSPHysics modelling to analyse the response of Tetrapods against solitary wave
저자
by
Mitsui, Jun
;
Altomare, Corrado
;
Crespo, Alejandro J.C.
;
Domínguez, José M.
;
Martínez-Estévez, Iván
, et al.
소스
In
Coastal Engineering
August 2023 183
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7 . Academic Journal
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
저자
by
Mitsui, Jun
;
Matsukawa, Takashi
;
Uemura, Yukari
;
Kawahara, Takuya
;
Chikada, Ayaka
, et al.
소스
In
eClinicalMedicine
May 2023 59
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7 . Academic Journal
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population
저자
by
Porto, Kristine Joyce
;
Hirano, Makito
;
Mitsui, Jun
;
Chikada, Ayaka
;
Matsukawa, Takashi
, et al.
소스
In
Journal of the Neurological Sciences
15 October 2021 429
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7 . Academic Journal
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability
저자
by
Enomoto, Yumi
;
Tsurusaki, Yoshinori
;
Yokoi, Takayuki
;
Abe-Hatano, Chihiro
;
Ida, Kazumi
, et al.
소스
In
European Journal of Medical Genetics
January 2020 63(1)
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7 . Academic Journal
Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism
저자
by
Kajii, Takashi S.
;
Oka, Akira
;
Saito, Fumio
;
Mitsui, Jun
;
Iida, Junichiro
.
소스
In
Bone
May 2019 122:193-198
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7 . Academic Journal
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion
저자
by
Ichinose, Yuta
;
Ishiura, Hiroyuki
;
Tanaka, Masaki
;
Yoshimura, Jun
;
Doi, Koichiro
, et al.
소스
In
Parkinsonism and Related Disorders
April 2019 61:57-63
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7 . Academic Journal
SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis.
저자
by
Naruse, Hiroya
;
Ishiura, Hiroyuki
;
Esaki, Kayoko
;
Mitsui, Jun
;
Satake, Wataru
, et al.
소스
Annals of Clinical & Translational Neurology
. Apr2024, Vol. 11 Issue 4, p946-957. 12p.
Open Access (Wiley)
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7 . Academic Journal
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
저자
by
Matsukawa, Takashi
;
Porto, Kristine Joyce L.
;
Mitsui, Jun
;
Chikada, Ayaka
;
Ishiura, Hiroyuki
, et al.
소스
Cerebellum
. Feb2024, Vol. 23 Issue 1, p22-30. 9p.
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7 . Academic Journal
A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant
저자
by
Orimo, Kenta
;
Kakumoto, Toshiyuki
;
Hara, Ryo
;
Goto, Ryoji
;
Ishiura, Hiroyuki
, et al.
소스
In
Journal of the Neurological Sciences
15 August 2023 451
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7 . Academic Journal
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
저자
by
Hama, Yuka
;
Date, Hidetoshi
;
Fujimoto, Akiko
;
Matsui, Ayano
;
Ishiura, Hiroyuki
, et al.
소스
Cerebellum
. Dec2023, Vol. 22 Issue 6, p1308-1311. 4p.
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