E-LIB Suche - Ergebnisse für: Takeguchi, Ryo

1

Neurophysiological and brain structural insights into cycli..:

Takeguchi, Ryo ; Akaba, Yuichi ; Kuroda, Mami...
Journal of the Neurological Sciences. 461 (2024) - p. 123063 , 2024

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

2

A novel HECW2 variant in an infant with congenital long QT ..:

Imanishi, Rina ; Nakau, Kouichi ; Shimada, Sorachi...
Human Genome Variation. 10 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

3

Clinical characteristics of muscle cramps in hereditary ang..:

Haga, Shunsuke ; Takeguchi, Ryo ; Tanaka, Ryosuke...
Brain and Development. 45 (2023) 7 - p. 390-394 , 2023

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

4

Novel NARS2 variant causing leigh syndrome with normal lact..:

Tanaka, Ryosuke ; Takeguchi, Ryo ; Kuroda, Mami...
Human Genome Variation. 9 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

5

CDKL5 deficiency causes epileptic seizures independent of c..:

Takahashi, Satoru ; Takeguchi, Ryo ; Tanaka, Ryosuke...
Journal of the Neurological Sciences. 443 (2022) - p. 120498 , 2022

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

6

Structural and functional changes in the brains of patients..:

Takeguchi, Ryo ; Kuroda, Mami ; Tanaka, Ryosuke...
Journal of the Neurological Sciences. 441 (2022) - p. 120381 , 2022

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

7

Phenotypic overlap between pyruvate dehydrogenase complex d..:

Akaba, Yuichi ; Takahashi, Satoru ; Takeguchi, Ryo...
Clinical Case Reports. 9 (2021) 3 - p. 1711-1715 , 2021

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

8

Early diagnosis of MECP2 duplication syndrome: Insights fro..:

Takeguchi, Ryo ; Takahashi, Satoru ; Akaba, Yuichi...
Journal of the Neurological Sciences. 422 (2021) - p. 117321 , 2021

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

9

A Complex Phenotype of a Patient with Spastic Paraplegia Ty..:

Akaba, Yuichi ; Takeguchi, Ryo ; Tanaka, Ryosuke.
Case Reports in Neurology. 13 (2021) 3 - p. 763-771 , 2021

Link: https://doi.org/10.1159/..

10

Atypical Rett syndrome in a girl with mosaic triple X and M..:

Takahashi, Satoru ; Takeguchi, Ryo ; Kuroda, Mami.
Molecular Genetics & Genomic Medicine. 8 (2020) 3 - p. , 2020

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

11

The role of molecular analysis of SLC2A1 in the diagnostic ..:

Takahashi, Satoru ; Tanaka, Ryosuke ; Takeguchi, Ryo...
Journal of the Neurological Sciences. 416 (2020) - p. 117041 , 2020

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

12

Defining the phenotype ofFHF1developmental and epileptic en..:

Trivisano, Marina ; Ferretti, Alessandro ; Bebin, Elizabeth...
Epilepsia. 61 (2020) 7 - p. , 2020

Link: https://doi.org/10.1111/..

13

Biallelic SZT2 variants in a child with developmental and e..:

Tanaka, Ryosuke ; Takahashi, Satoru ; Kuroda, Mami...
Epileptic Disorders. 22 (2020) 4 - p. 501-505 , 2020

Link: https://doi.org/10.1684/..

14

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male..:

Takeguchi, Ryo ; Takahashi, Satoru ; Kuroda, Mami...
Molecular Genetics & Genomic Medicine. 8 (2019) 2 - p. , 2019

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

15

Two Japanese cases of epileptic encephalopathy associated w..:

Takeguchi, Ryo ; Haginoya, Kazuhiro ; Uchiyama, Yuri...
Brain and Development. 40 (2018) 8 - p. 728-732 , 2018

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