E-LIB Suche - Ergebnisse für: Hashiguchi, Akihiro

1

Spatial Fluctuation of Central Nervous System Lesions in X-..:

Yoshimoto, Yukiyo ; Yoshimoto, Shoko ; Kakiuchi, Kensuke...
Internal Medicine. 63 (2024) 4 - p. 571-576 , 2024

Link: https://doi.org/10.2169/..

2

Linking LRP12 CGG repeat expansion to inherited peripheral ..:

Hobara, Takahiro ; Ando, Masahiro ; Higuchi, Yujiro...
Journal of Neurology, Neurosurgery & Psychiatry. , 2024

Link: https://doi.org/10.1136/..

3

A novel homozygous HPDL variant in Japanese siblings with a..:

Kojima, Fumikazu ; Okamoto, Yuji ; Ando, Masahiro...
neurogenetics. , 2024

Link: https://doi.org/10.1007/..

4

Case report: Mitochondrial trifunctional protein deficiency..:

Ishikawa, Ruoyi ; Nakamori, Masahiro ; Takenaka, Megumi...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

Dystonia and Parkinsonism in COA7-related disorders: expand..:

Higuchi, Yujiro ; Ando, Masahiro ; Kojima, Fumikazu...
Journal of Neurology. 271 (2023) 1 - p. 419-430 , 2023

Link: https://doi.org/10.1007/..

6

Genetic, electrophysiological, and pathological studies on ..:

Yuan, Jun‐Hui ; Cheng, Xiaoyang ; Matsuura, Eiji...
Journal of the Peripheral Nervous System. 28 (2023) 4 - p. 597-607 , 2023

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

7

HTLV-1-associated myelopathy/tropical spastic paraplegia wi..:

Matsuura, Eiji ; Nozuma, Satoshi ; Shigehisa, Ayano...
BMC Musculoskeletal Disorders. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Clinical variability associated with intronic FGF14 GAA rep..:

Ando, Masahiro ; Higuchi, Yujiro ; Yuan, Junhui...
Annals of Clinical and Translational Neurology. 11 (2023) 1 - p. 96-104 , 2023

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

9

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Jun..:

Nozaki, Ichiro ; Hashiguchi, Akihiro ; Takashima, Hiroshi...
Internal Medicine. 62 (2023) 20 - p. 3033-3036 , 2023

Link: https://doi.org/10.2169/..

10

Gene panel analysis of 119 index patients with suspected pe..:

Yuan, Jun-Hui ; Higuchi, Yujiro ; Hashiguchi, Akihiro...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

Genetic spectrum and founder effect of non-dystrophic myoto..:

Yuan, Jun-Hui ; Higuchi, Yujiro ; Hashiguchi, Akihiro...
Journal of Neurology. 269 (2022) 12 - p. 6406-6415 , 2022

Link: https://doi.org/10.1007/..

12

A case of successful renal transplantation ofCharcot‐Marie‐..:

Matsuoka, Chika ; Taira, Yuki ; Sasaki, Ryo...
Neurology and Clinical Neuroscience. 10 (2022) 5 - p. 252-254 , 2022

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

13

Elderly patients with suspected Charcot-Marie-Tooth disease..:

Taniguchi, Takaki ; Ando, Masahiro ; Okamoto, Yuji...
Journal of Human Genetics. 67 (2022) 6 - p. 353-362 , 2022

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

14

Complex hereditary peripheral neuropathies caused by novel ..:

Hiramatsu, Yu ; Okamoto, Yuji ; Yoshimura, Akiko...
Journal of Neurology. 269 (2022) 8 - p. 4129-4140 , 2022

Link: https://doi.org/10.1007/..

15

Novel de novo POLR3B mutations responsible for demyelinatin..:

Ando, Masahiro ; Higuchi, Yujiro ; Yuan, Jun‐Hui...
Annals of Clinical and Translational Neurology. 9 (2022) 5 - p. 747-755 , 2022

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