Satomi Mitsuhashi

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 479 citations

Neurodegenerative Diseases, Genetic Disorder, Neurology +6

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Yukiko Hayashi, Chie Matsuda, Megumu Ogawa et al. · Journal of Clinical Investigation · 2009 · 391 citations · Full text

Muscle Hypertrophy, Genetics, Cellular Physiology +19

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog et al. · The American Journal of Human Genetics · 2016 · 260 citations · Full text

Chromatin, Developmental Biology, Mendelian Disorder +12

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi et al. · Genome biology · 2019 · 167 citations · Full text

MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation

Matthew S. Alexander, Genri Kawahara, Norio Motohashi et al. · Cell Death and Differentiation · 2013 · 141 citations · Full text

Developmental Biology, Skeletal Muscle, Cell Proliferation +9