E-LIB Suche - Ergebnisse für: Okubo, Mariko

1

A 53‐year‐old man with a 16‐year history of asymmetrical pr..:

Tanboon, Jantima ; El Sherif, Rasha ; Inoue, Michio...
Brain Pathology. 33 (2023) 5 - p. , 2023

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

2

Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibod..:

Munekane, Asami ; Ohsawa, Yutaka ; Okubo, Mariko...
Internal Medicine. 62 (2023) 9 - p. 1345-1349 , 2023

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

3

RNA-seq analysis, targeted long-read sequencing and in sili..:

Okubo, Mariko ; Noguchi, Satoru ; Awaya, Tomonari...
Human Genetics. 142 (2022) 1 - p. 59-71 , 2022

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

4

Deep convolutional neural network-based algorithm for muscl..:

Kabeya, Yoshinori ; Okubo, Mariko ; Yonezawa, Sho...
Laboratory Investigation. 102 (2022) 3 - p. 220-226 , 2022

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

5

Multidimensional analyses of the pathomechanism caused by t..:

Yoshioka, Wakako ; Iida, Aritoshi ; Sonehara, Kyuto...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

6

A Japanese Patient with Hereditary Myopathy with Early Resp..:

Sano, Yasuteru ; Ota, Satoko ; Oishi, Mariko...
Internal Medicine. 61 (2022) 10 - p. 1587-1592 , 2022

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

7

Imaging‐based evaluation of pathogenicity by novelDNM2varia..:

Fujise, Kenshiro ; Okubo, Mariko ; Abe, Tadashi...
Human Mutation. 43 (2021) 2 - p. 169-179 , 2021

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

8

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remode..:

Fujise, Kenshiro ; Okubo, Mariko ; Abe, Tadashi...
Journal of Biological Chemistry. 296 (2021) - p. 100077 , 2021

Link: https://doi.org/10.1074/..

9

Whole genome sequencing of 45 Japanese patients with intell..:

Abe‐Hatano, Chihiro ; Iida, Aritoshi ; Kosugi, Shunichi...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1468-1480 , 2021

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

10

Mild form of Danon disease: two case reports:

Yasui, Toshio ; Nagaoka, Utako ; Oya, Yasushi...
Neuromuscular Disorders. 31 (2021) 11 - p. 1207-1211 , 2021

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

11

Clinical, imaging, morphologic, and molecular features of X..:

Cotta, Ana ; Carvalho, Elmano ; da-Cunha-Junior, Antonio Lopes...
Journal of the Neurological Sciences. 415 (2020) - p. 116977 , 2020

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

12

Duchenne muscular dystrophy–like phenotype in an LGMD2I pat..:

Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko...
Human Genome Variation. 7 (2020) 1 - p. , 2020

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

13

Exon skipping induced by nonsense/frameshift mutations in D..:

Okubo, Mariko ; Noguchi, Satoru ; Hayashi, Shinichiro...
Human Genetics. 139 (2020) 2 - p. 247-255 , 2020

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

14

Association of inattention with slow-spindle density in sle..:

Saito, Yoshihiko ; Kaga, Yoshimi ; Nakagawa, Eiji...
Brain and Development. 41 (2019) 9 - p. 751-759 , 2019

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

15

Three novel MTM1 pathogenic variants identified in Japanese..:

Nishikawa, Atsuko ; Iida, Aritoshi ; Hayashi, Shinichiro...
Molecular Genetics & Genomic Medicine. 7 (2019) 5 - p. , 2019

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