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1 . 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
Full Text (Clinical Key)
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Scopus
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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)
Scopus
Web of Science
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7 . Academic Journal
A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.
저자
by
Mizuno, Yuri
;
Uehara, Taira
;
Nakamura, Yuri
;
Okadome, Toshiki
;
Mukaino, Takahiko
, et al.
소스
Journal of Sleep Research
. Nov2023, p1. 5p. 1 Illustration, 1 Chart.
Scopus
Web of Science
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7 . Academic Journal
Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy
저자
by
Shindo, Kazumasa
;
Sato, Tohko
;
Kurita, Takafumi
;
Satake, Akane
;
Tsuchiya, Mai
, et al.
소스
In
Journal of Clinical Neuroscience
May 2021 87:80-83
Full Text (Clinical Key)
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7 . Academic Journal
Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?
저자
by
Nan, Haitian
;
Natori, Takahiro
;
Ichinose, Yuta
;
Koh, Kishin
;
Kobayashi, Fumikazu
, et al.
소스
In
Parkinsonism and Related Disorders
December 2019 69:68-70
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7 . Academic Journal
A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment
저자
by
Tsuchiya, Mai
;
Koh, Kishin
;
Ishida, Aki
;
Ichinose, Yuta
;
Shindo, Kazumasa
, et al.
소스
In
Journal of the Neurological Sciences
15 February 2019 397:114-116
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7 . Academic Journal
MOG antibody‐related disorder associated with peripheral facial nerve palsy.
저자
by
Morishima, Yuto
;
Satake, Akane
;
Hata, Takanori
;
Koh, Kishin
;
Nagasaka, Takamura
, et al.
소스
Clinical & Experimental Neuroimmunology
. Nov2022, Vol. 13 Issue 4, p246-250. 5p.
Scopus
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7 . Academic Journal
Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia
저자
by
Nan, Haitian
;
Takaki, Ryusuke
;
Ichinose, Yuta
;
Tsuchiya, Mai
;
Koh, Kishin
, et al.
소스
In
Journal of the Neurological Sciences
15 July 2018 390:1-3
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Scopus
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7 . Academic Journal
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.
저자
by
Koh, Kishin
;
Shimazaki, Haruo
;
Ogawa, Matsuo
;
Takiyama, Yoshihisa
.
소스
Human Genome Variation; 7/27/2022, Vol. 9 Issue 1, p1-4, 4p
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6 . Academic Journal
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease.
저자
by
Ando, Masahiro
;
Higuchi, Yujiro
;
Yuan, Junhui
;
Yoshimura, Akiko
;
Taniguchi, Takaki
, et al.
소스
Annals of Clinical & Translational Neurology
. Jul2022, Vol. 9 Issue 7, p902-911. 10p.
Open Access (Wiley)
Scopus
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