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Year Number of Results
2002 1
2003 6
2004 1
2005 3
2006 2
2007 4
2008 5
2009 4
2010 1
2011 4
2012 2
2013 7
2014 5
2015 4
2016 4
2017 8
2018 10
2019 5
2020 5
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2022 8
2023 13
2024 2

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98 results

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Page 1
An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Hubregtse L, Bouman K, Lama C, Lassche S, de Graaf N, Taglietti V, Küsters B, Periou B, Relaix F, van Engelen B, Authier FJ, Voermans NC, Malfatti E. Hubregtse L, et al. Among authors: authier fj. Neuromuscul Disord. 2024 Mar;36:6-15. doi: 10.1016/j.nmd.2024.01.003. Epub 2024 Jan 14. Neuromuscul Disord. 2024. PMID: 38306719 Free article.
Characterizing Acute-Onset Small Fiber Neuropathy.
Gendre T, Lefaucheur JP, Nordine T, Baba-Amer Y, Authier FJ, Devaux J, Créange A. Gendre T, et al. Among authors: authier fj. Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200195. doi: 10.1212/NXI.0000000000200195. Epub 2024 Jan 3. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38170952 Free PMC article.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: authier fj. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Receptor interacting protein kinase-3 mediates both myopathy and cardiomyopathy in preclinical animal models of Duchenne muscular dystrophy.
Bencze M, Periou B, Punzón I, Barthélémy I, Taglietti V, Hou C, Zaidan L, Kefi K, Blot S, Agbulut O, Gervais M, Derumeaux G, Authier FJ, Tiret L, Relaix F. Bencze M, et al. Among authors: authier fj. J Cachexia Sarcopenia Muscle. 2023 Dec;14(6):2520-2531. doi: 10.1002/jcsm.13265. Epub 2023 Nov 1. J Cachexia Sarcopenia Muscle. 2023. PMID: 37909859 Free PMC article.
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.
Cardone N, Taglietti V, Baratto S, Kefi K, Periou B, Gitiaux C, Barnerias C, Lafuste P, Pharm FL, Pharm JN, Panicucci C, Desguerre I, Bruno C, Authier FJ, Fiorillo C, Relaix F, Malfatti E. Cardone N, et al. Among authors: authier fj. Acta Neuropathol Commun. 2023 Oct 19;11(1):167. doi: 10.1186/s40478-023-01657-z. Acta Neuropathol Commun. 2023. PMID: 37858263 Free PMC article.
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Severa G, Pennisi A, Barnerias C, Fiorillo C, Scala M, Taglietti V, Cojocaru AI, Jouni D, Tosca L, Tachdjian G, Desguerre I, Authier FJ, Carlier RY, Metay C, Verebi C, Malfatti E. Severa G, et al. Among authors: authier fj. Neuromuscul Disord. 2023 Oct;33(10):817-821. doi: 10.1016/j.nmd.2023.08.011. Epub 2023 Aug 25. Neuromuscul Disord. 2023. PMID: 37743183
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Bayard C, et al. Among authors: authier fj. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Damy T, Zaroui A, de Tournemire M, Kharoubi M, Gounot R, Galat A, Guendouz S, Funalot B, Itti E, Roulin L, Audard V, Fanen P, Leroy V, Poulot E, Belhadj K, Mallet S, Deep Singh Chadah G, Planté-Bordeneuve V, Gendre T, Chevalier X, Guignard S, Bequignon E, Bartier S, Folliguet T, Lemonier F, Audureau E, Tixier D, Canoui-Poitrine F, Lefaucheur JP, Souvannanorath S, Authier FJ, Maupou S, Hittinger L, Molinier-Frenkel V, David JP, Broussier A, Oghina S, Teiger E. Damy T, et al. Among authors: authier fj. Arch Cardiovasc Dis. 2023 Oct;116(10):433-446. doi: 10.1016/j.acvd.2023.07.003. Epub 2023 Aug 18. Arch Cardiovasc Dis. 2023. PMID: 37640624
Anti-SAE autoantibody in dermatomyositis: original comparative study and review of the literature.
Demortier J, Vautier M, Chosidow O, Gallay L, Bessis D, Berezne A, Cordel N, Schmidt J, Smail A, Duffau P, Jachiet M, Begon E, Gottlieb J, Chasset F, Graveleau J, Marque M, Cesbron E, Forestier A, Josse S, Kluger N, Beauchêne C, Le Corre Y, Pagis V, Rigolet A, Guillaume-Jugnot P, Authier FJ, Guilain N, Streichenberger N, Leonard-Louis S, Boussouar S, Landon-Cardinal O, Benveniste O, Allenbach Y. Demortier J, et al. Among authors: authier fj. Rheumatology (Oxford). 2023 Dec 1;62(12):3932-3939. doi: 10.1093/rheumatology/kead154. Rheumatology (Oxford). 2023. PMID: 37010495 Review.
98 results