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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
1977 2
1983 2
1984 2
1985 3
1986 4
1987 3
1988 2
1989 3
1990 1
1991 1
1993 2
1994 1
1995 4
1996 5
1997 4
1998 2
1999 5
2000 6
2001 5
2002 3
2003 6
2004 10
2005 3
2006 11
2007 12
2008 9
2009 11
2010 8
2011 12
2012 14
2013 9
2014 14
2015 12
2016 12
2017 14
2018 18
2019 11
2020 18
2021 20
2022 5
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Search Results

252 results
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Page 1
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. Kohda M, et al. Among authors: ohtake a. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26741492 Free PMC article.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: ohtake a. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Among authors: ohtake a. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 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: ohtake a. 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
[Galactosemia].
Ohtake A, Amemiya S. Ohtake A, et al. Nihon Rinsho. 2006 Sep 28;Suppl 3:215-9. Nihon Rinsho. 2006. PMID: 17022534 Review. Japanese. No abstract available.
A Japanese family with P102L Gerstmann-Sträussler-Scheinker disease with a variant Creutzfeldt-Jakob disease-like phenotype among the siblings: A case report.
Ota K, Nakazato Y, Yokoyama R, Kawasaki H, Tamura N, Ohtake A, Saito-Tsuruoka M, Yamamoto T. Ota K, et al. Among authors: ohtake a. eNeurologicalSci. 2021 Nov 16;25:100380. doi: 10.1016/j.ensci.2021.100380. eCollection 2021 Dec. eNeurologicalSci. 2021. PMID: 34841096 Free PMC article. No abstract available.
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K. Numata-Uematsu Y, et al. Among authors: ohtake a. Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522618 Free PMC article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: ohtake a. Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057030 Free PMC article.
252 results