E-LIB Suche - Ergebnisse für: Inui, Takehiko

1

The Clinical Course and Treatment of a Case of Refractory S..:

Shibuya, Moriei ; Shichiji, Minobu ; Ikeda, Miki...
The Tohoku Journal of Experimental Medicine. 262 (2024) 1 - p. 29-31 , 2024

Link: https://doi.org/10.1620/..

2

Treatment of ZC4H2 Variant-Associated Spastic Paraplegia wi..:

Inotani, Toshiki ; Horaguchi, Akira ; Morishita, Yuko...
The Tohoku Journal of Experimental Medicine. 262 (2024) 4 - p. 239-244 , 2024

Link: https://doi.org/10.1620/..

3

Long‐term clinical observation of patients with heterozygou..:

Kawashima, Aritomo ; Kodama, Kaori ; Okubo, Yukimune...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

4

Neonatal developmental and epileptic encephalopathy with mo..:

Okubo, Yukimune ; Shibuya, Moriei ; Nakamura, Haruhiko...
Brain and Development. 45 (2023) 9 - p. 505-511 , 2023

Link: https://doi.org/10.1016/..

5

A first case of childhood chronic inflammatory demyelinatin..:

Okubo, Yukimune ; Miyabayashi, Takuya ; Sato, Ryo...
Brain and Development. 44 (2022) 10 - p. 748-752 , 2022

Link: https://doi.org/10.1016/..

6

Water intoxication: A clue to the presence of classical Fab..:

Miyabayashi, Takuya ; Sato, Ryo ; Okubo, Yukimune...
Brain and Development. 44 (2022) 8 - p. 592-593 , 2022

Link: https://doi.org/10.1016/..

7

Multiple Cerebral Hemorrhages and White Matter Lesions Deve..:

Shibuya, Moriei ; Togashi, Noriko ; Inui, Takehiko...
The Tohoku Journal of Experimental Medicine. 258 (2022) 1 - p. 49-54 , 2022

Link: https://doi.org/10.1620/..

8

A patient with early-onset SMAX3 and a novel variant of ATP..:

Shibuya, Moriei ; Yaoita, Hisao ; Kodama, Kaori...
Brain and Development. 44 (2022) 1 - p. 63-67 , 2022

Link: https://doi.org/10.1016/..

9

Two Siblings with Cerebellar Ataxia, Mental Retardation, an..:

Narishige, Yuta ; Yaoita, Hisao ; Shibuya, Moriei...
The Tohoku Journal of Experimental Medicine. 256 (2022) 4 - p. 321-326 , 2022

Link: https://doi.org/10.1620/..

10

Intravenous ketogenic diet therapy for neonatal-onset pyruv..:

Inui, Takehiko ; Wada, Yoichi ; Shibuya, Moriei...
Brain and Development. 44 (2022) 3 - p. 244-248 , 2022

Link: https://doi.org/10.1016/..

11

Leigh syndrome-like MRI changes in a patient with biallelic..:

Numata-Uematsu, Yurika ; Uematsu, Mitsugu ; Yamamoto, Toshiyuki...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100800 , 2021

Link: https://doi.org/10.1016/..

12

Two cases of persistent falcine and occipital sinuses:

Inui, Takehiko ; Shibuya, Moriei ; Miyabayashi, Takuya...
Brain and Development. 43 (2021) 1 - p. 170-173 , 2021

Link: https://doi.org/10.1016/..

13

A 23-year follow-up report of juvenile-onset Sandhoff disea..:

Shibuya, Moriei ; Uneoka, Saki ; Onuma, Akira...
Brain and Development. 43 (2021) 10 - p. 1029-1032 , 2021

Link: https://doi.org/10.1016/..

14

Reply to: "Letter: Two cases of persistent falcine and occi..:

Inui, Takehiko ; Shimanuki, Yoshihisa ; Mori, Harushi.
Brain and Development. 43 (2021) 1 - p. 175 , 2021

Link: https://doi.org/10.1016/..

15

A novel stop-gain CUL3 mutation in a Japanese patient with ..:

Iwafuchi, Sota ; Kikuchi, Atsuo ; Endo, Wakaba...
Brain and Development. 43 (2021) 2 - p. 303-307 , 2021

Link: https://doi.org/10.1016/..