Skip to main page content
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
1991 1
1993 2
1994 2
1995 3
1996 2
1997 3
1998 1
1999 2
2000 1
2001 6
2002 3
2003 11
2004 8
2005 4
2006 10
2007 9
2008 12
2009 11
2010 10
2011 12
2012 9
2013 7
2014 8
2015 15
2016 11
2017 7
2018 8
2019 10
2020 4
2021 5
Text availability
Article attribute
Article type
Publication date

Search Results

172 results
Results by year
Filters applied: . Clear all
Page 1
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: boespflug tanguy o. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
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: boespflug tanguy o. 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.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Among authors: boespflug tanguy o. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.
Auvin S, Bellavoine V, Merdariu D, Delanoë C, Elmaleh-Bergés M, Gressens P, Boespflug-Tanguy O. Auvin S, et al. Among authors: boespflug tanguy o. Eur J Paediatr Neurol. 2012 Sep;16(5):413-21. doi: 10.1016/j.ejpn.2012.01.007. Epub 2012 Feb 14. Eur J Paediatr Neurol. 2012. PMID: 22341151 Review.
Inborn errors of brain myelin formation.
Boespflug-Tanguy O. Boespflug-Tanguy O. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. Handb Clin Neurol. 2013. PMID: 23622380 Review.
The large spectrum of eIF2B-related diseases.
Fogli A, Boespflug-Tanguy O. Fogli A, et al. Among authors: boespflug tanguy o. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. doi: 10.1042/BST20060022. Biochem Soc Trans. 2006. PMID: 16246171 Review.
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Among authors: boespflug tanguy o. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: boespflug tanguy o. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F. Saint-Val L, et al. Among authors: boespflug tanguy o. AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25. AJNR Am J Neuroradiol. 2019. PMID: 31023660 Free PMC article.
172 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page