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Okubo, Mariko
98
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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/..
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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/..
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3
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/..
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4
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/..
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5
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/..
?
6
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/..
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7
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/..
?
8
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/..
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9
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/..
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10
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/..
?
11
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/..
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12
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/..
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13
RNA sequencing solved the most common but unrecognized NEB ..:
Hamanaka, Kohei
;
Miyatake, Satoko
;
Koshimizu, Eriko
...
Genetics in Medicine. 21 (2019) 7 - p. 1629-1638 , 2019
Link:
https://doi.org/10.1038/..
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14
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/..
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15
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/..
1-15