E-LIB Suche - Ergebnisse für: Misumi, Yohei

1

A Novel Mutation of VPS13D-related Disorders with Parkinson..:

Harada, Shizuka ; Azuma, Yoshiteru ; Misumi, Yohei...
Internal Medicine. , 2024

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

2

Impact de la sévérité de la polyneuropathie à baseline sur ..:

Luigetti, Marco ; Quan, Dianna ; Berk, John L....
Revue Neurologique. 180 (2024) - p. S116-S117 , 2024

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

3

Long-term course of a case with a novel homozygous kyphosco..:

Misumi, Yohei ; Yamashita, Taro ; Kuratomi, Aki...
Journal of Human Genetics. , 2024

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

4

Hypohidrotic ectodermal dysplasia with influenza-associated..:

Yoshida, Takanobu ; Kido, Jun ; Ogata, Mika...
Brain and Development Case Reports. 2 (2024) 2 - p. 100018 , 2024

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

5

A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in ..:

Morooka, Naoki ; Kido, Jun ; Ueno, Hiroe...
Brain and Development Case Reports. 2 (2024) 3 - p. 100023 , 2024

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

6

Impact of Baseline Neuropathy Severity on Vutrisiran Treatm..:

Luigetti, Marco ; Quan, Dianna ; Berk, John L....
Neurology and Therapy. 13 (2024) 3 - p. 625-639 , 2024

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

7

X-linked intellectual disability related to a novel variant..:

Kido, Jun ; Egami, Kimiyasu ; Misumi, Yohei...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

8

Disease‐Modifying Drugs Extend Survival in Hereditary Trans..:

Ueda, Mitsuharu ; Misumi, Yohei ; Nomura, Toshiya...
Annals of Neurology. 95 (2023) 2 - p. 230-236 , 2023

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

9

Correlation between a commercial electrophysiological test ..:

Masuda, Teruaki ; Misumi, Yohei ; Nomura, Toshiya...
Muscle & Nerve. 69 (2023) 1 - p. 99-102 , 2023

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

10

Heterozygous c.175C>T variant in PURA gene causes severe de..:

Noda, Yusuke ; Kido, Jun ; Misumi, Yohei...
Clinical Case Reports. 11 (2023) 9 - p. , 2023

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

11

Urinary Transthyretin as a Biomarker in ATTRv Val50Met Amyl..:

Matsushita, Hiroaki ; Misumi, Yohei ; Masuda, Teruaki...
Pathophysiology. 29 (2022) 3 - p. 333-343 , 2022

Link: https://doi.org/10.3390/..

12

Detection of Vascular Notch3 Deposits in Unfixed Frozen Ski..:

Ueda, Akihiko ; Nakajima, Makoto ; Misumi, Yohei...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

13

Reversible Periventricular Hyperintensity Lesions in Cerebr..:

Inoue, Yasuteru ; Nakajima, Makoto ; Inatomi, Yuichiro...
Internal Medicine. 61 (2022) 23 - p. 3581-3584 , 2022

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

14

Effects of Intensive Exercise on Cognitive Dysfunction in P..:

Shimamoto, Toshiya ; Uchino, Katsuhisa ; Mori, Akira...
Annals of Rehabilitation Medicine. 46 (2022) 5 - p. 263-273 , 2022

Link: https://doi.org/10.5535/..

15

Prognostic value of right ventricular global longitudinal s..:

Usuku, Hiroki ; Takashio, Seiji ; Yamamoto, Eiichiro...
Journal of Cardiology. 80 (2022) 1 - p. 56-63 , 2022

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