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

Year Number of Results
1974 1
1975 1
1976 2
1979 2
1981 1
1982 1
1986 1
1991 2
1992 4
1994 3
1995 1
1996 2
1998 1
1999 1
2000 4
2001 2
2002 2
2003 2
2004 1
2006 3
2007 2
2008 3
2009 1
2010 8
2011 7
2012 7
2013 5
2014 8
2015 8
2016 5
2017 5
2018 8
2019 4
2020 5
2021 9
2022 10
2023 10
2024 0

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124 results

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Page 1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: tolun a. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Regulation of mitochondrial metabolism in murine skeletal muscle by the medium-chain fatty acid receptor Gpr84.
Montgomery MK, Osborne B, Brandon AE, O'Reilly L, Fiveash CE, Brown SHJ, Wilkins BP, Samsudeen A, Yu J, Devanapalli B, Hertzog A, Tolun AA, Kavanagh T, Cooper AA, Mitchell TW, Biden TJ, Smith NJ, Cooney GJ, Turner N. Montgomery MK, et al. Among authors: tolun aa. FASEB J. 2019 Nov;33(11):12264-12276. doi: 10.1096/fj.201900234R. Epub 2019 Aug 15. FASEB J. 2019. PMID: 31415180 Free PMC article.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E. Misceo D, et al. Among authors: tolun a. Brain. 2023 Aug 1;146(8):3513-3527. doi: 10.1093/brain/awad086. Brain. 2023. PMID: 36917474 Free PMC article.
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Bilches Medinas D, et al. Among authors: tolun a. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14. EMBO J. 2022. PMID: 34904718 Free PMC article.
Intronic variants in inborn errors of metabolism: Beyond the exome.
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: tolun aa. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, Mitchell A, Dalkeith T, Billmore K, Moore F, Tolun AA, Devanapalli B, Bratkovic D, Hilditch C, Rahman Y, Tchan M, Bhattacharya K. Thompson S, et al. Among authors: tolun aa. Nutrients. 2023 Jan 19;15(3):531. doi: 10.3390/nu15030531. Nutrients. 2023. PMID: 36771238 Free PMC article. Review.
124 results