Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,133 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Hirono K, Ichida F, Nishio N, Ogawa-Tominaga M, Fushimi T, Feichtinger RG, Mayr JA, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K. Hirono K, et al. Among authors: murayama k. Clin Case Rep. 2019 Feb 7;7(3):553-557. doi: 10.1002/ccr3.2050. eCollection 2019 Mar. Clin Case Rep. 2019. PMID: 30899493 Free PMC article.
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.
Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: murayama k. Sci Rep. 2021 May 27;11(1):11123. doi: 10.1038/s41598-021-90196-5. Sci Rep. 2021. PMID: 34045482 Free PMC article.
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. Aiba K, et al. Among authors: murayama k. Eur J Med Genet. 2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27. Eur J Med Genet. 2021. PMID: 34051360
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Akiyama N, et al. Among authors: murayama k. Sci Rep. 2021 Feb 11;11(1):3531. doi: 10.1038/s41598-021-81015-y. Sci Rep. 2021. PMID: 33574353 Free PMC article.
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Shimura M, et al. Among authors: murayama k. Sci Rep. 2019 Jul 22;9(1):10549. doi: 10.1038/s41598-019-46772-x. Sci Rep. 2019. PMID: 31332208 Free PMC article.
A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing.
Yao Y, Nishimura M, Murayama K, Kuranobu N, Tojo S, Beppu M, Ishige T, Itoga S, Tsuchida S, Mori M, Takayanagi M, Yokoyama M, Yamagata K, Kishita Y, Okazaki Y, Nomura F, Matsushita K, Tanaka T. Yao Y, et al. Among authors: murayama k. Sci Rep. 2019 Nov 22;9(1):17411. doi: 10.1038/s41598-019-53449-y. Sci Rep. 2019. PMID: 31757988 Free PMC article.
1,133 results