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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 9
2022 5
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178 results
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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.
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.
Mercuri E, Muntoni F, Baranello G, Masson R, Boespflug-Tanguy O, Bruno C, Corti S, Daron A, Deconinck N, Servais L, Straub V, Ouyang H, Chand D, Tauscher-Wisniewski S, Mendonca N, Lavrov A; STR1VE-EU study group. Mercuri E, et al. Among authors: boespflug tanguy o. Lancet Neurol. 2021 Oct;20(10):832-841. doi: 10.1016/S1474-4422(21)00251-9. Lancet Neurol. 2021. PMID: 34536405 Clinical Trial.
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.
Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Alburaiky S, Dale RC, Crow YJ, Jones HF, Wassmer E, Melki I, Boespflug-Tanguy O, Do Cao J, Gras D, Sharpe C. Alburaiky S, et al. Among authors: boespflug tanguy o. Dev Med Child Neurol. 2021 Dec;63(12):1483-1486. doi: 10.1111/dmcn.14969. Epub 2021 Jun 21. Dev Med Child Neurol. 2021. PMID: 34155623
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Among authors: boespflug tanguy o. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
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.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Among authors: boespflug tanguy o. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: boespflug tanguy o. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137
178 results