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3 research outputs found
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
Author
A Pyle
AM Sijbers
+43 more
AM Sijbers
Atsuko Tomita-Katsumoto
C Marelli
DK Jeppesen
Fumiaki Tanaka
G Carre
H Doi
Hideyuki Takeuchi
Hiroshi Doi
Hirotomo Saitsu
IA Adzhubei
JM Schwarz
K Kashiyama
Katsuhisa Ogata
Kayoko Oda
Keita Takahashi
Kenichi Tanaka
M Bogliolo
MB Hammer
MB Hammer
Michiko Aihara
Mikiko Tada
Misako Kunii
Mitsuko Nakashima
Naomichi Matsumoto
Noriko Hayashi
Noriko Miyake
P Kumar
Rumiko Kato
Ryoko Fukai
S Miyatake
S Moriwaki
Satoko Miyatake
Shigeru Koyano
Shingo Ikeda
Shinji Nakajima
Shun Kubota
Tomoo Ogi
Y Nakazawa
Y Tofuku
Yoshinori Tsurusaki
Yuka Nakazawa
Yukie Yamaguchi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Author
A Al-Maawali
A Durr
+46 more
A Matilla-Duenas
A Poretti
AK Erichsen
AM Schaefer
Atsuko Tomita-Katsumoto
Ayumi Takamura
Chihiro Ohba
EM Valente
FM Santorelli
Fumiaki Tanaka
H Saitsu
H Yamanaka
Hiroshi Doi
Hirotomo Saitsu
Hitoshi Osaka
I Sohar
J Haan
J Ligt de
JC Roach
Kiyomi Nishiyama
L Huang
LE Vissers
M Grapp
M Honsho
M Kousi
M Lynch
M Srour
MA Parisi
Mitsuko Nakashima
Mizue Iai
MJ Bamshad
MS Ebberink
N Shimozawa
Naomichi Matsumoto
Nobuyuki Shimozawa
Noriko Aida
Noriko Miyake
R Steinfeld
S Vermeer
SJ Steinberg
Sumimasa Yamashita
Y Sun
Yoshikatsu Eto
Yoshinori Tsurusaki
Yume Suzuki
Z Lukacs
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation
Author
A Uzawa
AE Fournier
+47 more
AH Jacobs
AR Tunkel
Atsuko Tomita-Katsumoto
B Bielekova
BN Hammack
CH Polman
D Miljkovic
DL Rotstein
FA Houssiau
Fumiaki Tanaka
G Akman-Demir
G Singhal
GE Thwaites
GF Grabner
Haruko Nakamura
HH Yu
Hideto Joki
Hideyuki Takeuchi
Hiroshi Doi
J Zhang
JM Frischer
K Suzuki
K Takahashi
K Takahashi
K Takahashi
Keita Takahashi
Kenichi Tanaka
Kohtaro Takei
L Qin
M Pool
Mikiko Tada
Misako Kunii
MS Chen
N Behairi
R Muramatsu
Ryoko Fukai
S Hirohata
S Petratos
Shigeru Koyano
SJ Ireland
T Yamashita
Y Kurihara
Y Kurihara
Y Matsuzono
Y Sato
Yuichi Higashiyama
Yuji Kurihara
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref