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Satomi Mitsuhashi
Satomi Mitsuhashi
St. Marianna University School of Medicine
在 marianna-u.ac.jp 的电子邮件经过验证
标题
引用次数
引用次数
年份
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
YK Hayashi, C Matsuda, M Ogawa, K Goto, K Tominaga, S Mitsuhashi, ...
The Journal of clinical investigation 119 (9), 2623-2633, 2009
4512009
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
J Sone, S Mitsuhashi, A Fujita, T Mizuguchi, K Hamanaka, K Mori, H Koike, ...
Nature genetics 51 (8), 1215-1221, 2019
3932019
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy
ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ...
The American Journal of Human Genetics 98 (5), 1020-1029, 2016
2432016
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation
MS Alexander, G Kawahara, N Motohashi, JC Casar, I Eisenberg, ...
Cell Death & Differentiation 20 (9), 1194-1208, 2013
1542013
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
S Mitsuhashi, A Ohkuma, B Talim, M Karahashi, T Koumura, C Aoyama, ...
The American Journal of Human Genetics 88 (6), 845-851, 2011
1492011
Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients
M Yazaki, S Mitsuhashi, T Tokuda, F Kametani, YI Takei, J Koyama, ...
American journal of transplantation 7 (1), 235-242, 2007
1322007
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
S Mitsuhashi, MC Frith, T Mizuguchi, S Miyatake, T Toyota, H Adachi, ...
Genome biology 20, 1-17, 2019
1202019
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
M Okubo, N Minami, K Goto, Y Goto, S Noguchi, S Mitsuhashi, I Nishino
Journal of human genetics 61 (6), 483-489, 2016
1162016
Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
K Hamanaka, D Šikrová, S Mitsuhashi, H Masuda, Y Sekiguchi, ...
Neurology 94 (23), e2441-e2447, 2020
1072020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
M Okubo, H Doi, R Fukai, A Fujita, S Mitsuhashi, S Hashiguchi, H Kishida, ...
Annals of neurology 86 (6), 962-968, 2019
1062019
A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer
S Mitsuhashi, K Kryukov, S Nakagawa, JS Takeuchi, Y Shiraishi, K Asano, ...
Scientific reports 7 (1), 5657, 2017
1042017
Long-read sequencing for rare human genetic diseases
S Mitsuhashi, N Matsumoto
Journal of Human Genetics 65 (1), 11-19, 2020
932020
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
HM Reddy, KA Cho, M Lek, E Estrella, E Valkanas, MD Jones, ...
Journal of human genetics 62 (2), 243-252, 2017
912017
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy
S Mitsuhashi, H Hatakeyama, M Karahashi, T Koumura, I Nonaka, ...
Human molecular genetics 20 (19), 3841-3851, 2011
912011
Update on the genetics of limb girdle muscular dystrophy
S Mitsuhashi, PB Kang
Seminars in pediatric neurology 19 (4), 211-218, 2012
892012
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
H Mitsuhashi, S Mitsuhashi, T Lynn-Jones, G Kawahara, LM Kunkel
Human Molecular Genetics 22 (3), 568-577, 2013
882013
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
SE Boyden, LJ Mahoney, G Kawahara, JA Myers, S Mitsuhashi, ...
Neurogenetics 13, 115-124, 2012
842012
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies
WC Liang, A Uruha, S Suzuki, N Murakami, E Takeshita, WZ Chen, ...
Rheumatology, kew386, 2016
832016
Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy
S Miyatake, S Mitsuhashi, YK Hayashi, E Purevjav, A Nishikawa, ...
The American Journal of Human Genetics 100 (1), 169-178, 2017
742017
Characterization of the Asian myopathy patients with VCP mutations
Z Shi, YK Hayashi, S Mitsuhashi, K Goto, D Kaneda, YC Choi, C Toyoda, ...
European journal of neurology 19 (3), 501-509, 2012
642012
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