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

My NCBI Filters
Results by year

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

Year Number of Results
1992 1
1994 1
1995 1
1997 1
1998 1
1999 1
2000 3
2001 1
2002 3
2003 4
2004 5
2005 5
2006 3
2007 5
2008 4
2009 5
2010 1
2011 2
2012 3
2013 6
2014 5
2015 7
2016 10
2017 15
2018 7
2019 7
2020 7
2021 8
2022 7
Text availability
Article attribute
Article type
Publication date

Search Results

111 results
Results by year
Filters applied: . Clear all
Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: darin n. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Ophthalmologic involvement in Leigh syndrome.
Andersson Grönlund M, Andersson S, Åkebrand R, Seyedi Honarvar AK, Sofou K, Darin N, Tulinius M. Andersson Grönlund M, et al. Among authors: darin n. Acta Ophthalmol. 2017 Feb;95(1):e76. doi: 10.1111/aos.13124. Epub 2016 May 28. Acta Ophthalmol. 2017. PMID: 27234010 Free article. No abstract available.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Hikmat O, et al. Among authors: darin n. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18. Ann Clin Transl Neurol. 2021. PMID: 34662929 Free PMC article.
Cerebrospinal fluid biomarkers in neurological diseases in children.
Shahim P, Månsson JE, Darin N, Zetterberg H, Mattsson N. Shahim P, et al. Among authors: darin n. Eur J Paediatr Neurol. 2013 Jan;17(1):7-13. doi: 10.1016/j.ejpn.2012.09.005. Epub 2012 Sep 29. Eur J Paediatr Neurol. 2013. PMID: 23026858 Review.
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.
Savvidou A, Jennions E, Wikström S, Olsson-Engman M, Sofou K, Darin N. Savvidou A, et al. Among authors: darin n. Eur J Paediatr Neurol. 2022 Jul;39:74-78. doi: 10.1016/j.ejpn.2022.06.007. Epub 2022 Jun 11. Eur J Paediatr Neurol. 2022. PMID: 35716526 Free article.
Endocrine and metabolic aspects of narcolepsy type 1 in children.
Szakács A, Dahlgren J, Eklund J, Aronson AS, Hallböök T, Darin N. Szakács A, et al. Among authors: darin n. Eur J Paediatr Neurol. 2021 Jul;33:68-74. doi: 10.1016/j.ejpn.2021.05.009. Epub 2021 May 18. Eur J Paediatr Neurol. 2021. PMID: 34098245
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Sofou K, et al. Among authors: darin n. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. EMBO Mol Med. 2021. PMID: 33938619 Free PMC article.
The in-depth evaluation of suspected mitochondrial disease.
Mitochondrial Medicine Society's Committee on Diagnosis, Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. Mitochondrial Medicine Society's Committee on Diagnosis, et al. Among authors: darin n. Mol Genet Metab. 2008 May;94(1):16-37. doi: 10.1016/j.ymgme.2007.11.018. Epub 2008 Feb 1. Mol Genet Metab. 2008. PMID: 18243024 Free PMC article. Review.
111 results