N

Noriko Miyake

National Center for Global Health and Medicine

ORCID: 0000-0003-0987-310X

786 papers and 19.3k citations.

PubIndex Score97Top 3%How it's scored

786Publications

19.3kTotal Citations

First publication: 1997First senior author: 1997

Top publicationsby citations

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Alan H. Beggs, Satoko Miyatake et al.|The American Journal of Human Genetics|2013

Cited by 224

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shiro Ikegawa, Lucie Dupuis et al.|The American Journal of Human Genetics|2013

Cited by 138

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Sarah K. Fiordaliso, Kosuke Izumi, Aiko Iwata‐Otsubo et al.|The American Journal of Human Genetics|2019

Cited by 18

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

Noriko Miyake, Takashi Shimada|Scientific Reports|2021

Cited by 16

Confirmation of <i>SLC5A7</i>‐related distal hereditary motor neuropathy 7 in a family outside Wales

Kohei Hamanaka, Naomichi Matsumoto, K. Takahashi et al.|Clinical Genetics|2018

Cited by 10

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