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

Year Number of Results
1949 1
1950 2
1951 1
1952 2
1953 1
1954 3
1955 1
1956 1
1957 3
1958 1
1959 3
1960 3
1961 1
1964 1
2002 6
2003 7
2004 7
2005 3
2006 5
2007 4
2008 6
2009 8
2010 4
2011 15
2012 10
2013 17
2014 8
2015 8
2016 10
2017 7
2018 7
2019 8
2020 10
2021 10
2022 3
2023 4
2024 0

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177 results

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Page 1
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S. Masingue M, et al. Among authors: fontaine b. Sci Rep. 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. Sci Rep. 2023. PMID: 37640745 Free PMC article.
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.
Fayssoil A, Mansencal N, Nguyen LS, Nardi O, Yaou RB, Leturcq F, Amthor H, Wahbi K, Becane HM, Lofaso F, Prigent H, Bassez G, Behin A, Stojkovic T, Fontaine B, Duboc D, Dubourg O, Clair B, Laforet P, Annane D, Orlikowski D. Fayssoil A, et al. Among authors: fontaine b. J Am Heart Assoc. 2023 Aug 15;12(16):e027231. doi: 10.1161/JAHA.122.027231. Epub 2023 Aug 10. J Am Heart Assoc. 2023. PMID: 37581390 Free PMC article. Clinical Trial.
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, Trimarchi H, Sprangers B, Cattran DC, Reich H, Pei Y, Ravani P, Galesic K, Maixnerova D, Tesar V, Stengel B, Metzger M, Canaud G, Maillard N, Berthoux F, Berthelot L, Pillebout E, Monteiro R, Nelson R, Wyatt RJ, Smoyer W, Mahan J, Samhar AA, Hidalgo G, Quiroga A, Weng P, Sreedharan R, Selewski D, Davis K, Kallash M, Vasylyeva TL, Rheault M, Chishti A, Ranch D, Wenderfer SE, Samsonov D, Claes DJ, Akchurin O, Goumenos D, Stangou M, Nagy J, Kovacs T, Fiaccadori E, Amoroso A, Barlassina C, Cusi D, Del Vecchio L, Battaglia GG, Bodria M, Boer E, Bono L, Boscutti G, Caridi G, Lugani F, Ghiggeri G, Coppo R, Peruzzi L, Esposito V, Esposito C, Feriozzi S, Polci R, Frasca G, Galliani M, Garozzo M, Mitrotti A, Gesualdo L, Granata S, Zaza G, Londrino F, Magistroni R, Pisani I, Magnano A, Marcantoni C, Messa P, Mignani R, Pani A, Ponticelli C, Roccatello D, Salvadori M, Salvi E, Santoro D, Gembillo G, Savoldi S, Spotti D, Zamboli P, Izzi C, Alberici F, Delbarba E, Florczak M, Krata N, Mucha K, Pączek L, Niemczyk S, Mosz… See abstract for full author list ➔ Kiryluk K, et al. Among authors: fontaine b. Nat Genet. 2023 Jul;55(7):1091-1105. doi: 10.1038/s41588-023-01422-x. Epub 2023 Jun 19. Nat Genet. 2023. PMID: 37337107
Cardiac Outcomes in Adults With Mitochondrial Diseases.
Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K. Savvatis K, et al. Among authors: fontaine b. J Am Coll Cardiol. 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716. J Am Coll Cardiol. 2022. PMID: 36202532 Free article.
The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK.
Boëx M, Cottin S, Halliez M, Bauché S, Buon C, Sans N, Montcouquiol M, Molgó J, Amar M, Ferry A, Lemaitre M, Rouche A, Langui D, Baskaran A, Fontaine B, Messéant J, Strochlic L. Boëx M, et al. Among authors: fontaine b. Sci Signal. 2022 May 17;15(734):eabg4982. doi: 10.1126/scisignal.abg4982. Epub 2022 May 17. Sci Signal. 2022. PMID: 35580169
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Among authors: fontaine b. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.
Vicart S, Franques J, Bouhour F, Magot A, Péréon Y, Sacconi S, Nadaj-Pakleza A, Behin A, Zahr N, Hézode M, Fournier E, Payan C, Lacomblez L, Fontaine B. Vicart S, et al. Among authors: fontaine b. Neuromuscul Disord. 2021 Nov;31(11):1124-1135. doi: 10.1016/j.nmd.2021.06.010. Epub 2021 Jun 27. Neuromuscul Disord. 2021. PMID: 34702654 Free article. Clinical Trial.
Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome.
Lebrun-Frénay C, Rollot F, Mondot L, Zephir H, Louapre C, Le Page E, Durand-Dubief F, Labauge P, Bensa C, Thouvenot E, Laplaud D, de Seze J, Ciron J, Bourre B, Cabre P, Casez O, Ruet A, Mathey G, Berger E, Moreau T, Al Khedr A, Derache N, Clavelou P, Guennoc AM, Créange A, Neau JP, Tourbah A, Camdessanché JP, Maarouf A, Callier C, Vermersch P, Kantarci O, Siva A, Azevedo C, Makhani N, Cohen M, Pelletier D, Okuda D, Vukusic S; RISC, SFSEP, and OFSEP Investigators. Lebrun-Frénay C, et al. JAMA Netw Open. 2021 Oct 1;4(10):e2128271. doi: 10.1001/jamanetworkopen.2021.28271. JAMA Netw Open. 2021. PMID: 34633424 Free PMC article.
The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre.
Delorme C, Houot M, Rosso C, Carvalho S, Nedelec T, Maatoug R, Pitron V, Gassama S, Sambin S, Bombois S, Herlin B, Ouvrard G, Bruneteau G, Hesters A, Gales AZ, Millet B, Lamari F, Lehericy S, Navarro V, Rohaut B, Demeret S, Maisonobe T, Yger M, Degos B, Mariani LL, Bouche C, Dzierzynski N, Oquendo B, Ketz F, Nguyen AH, Kas A, Lubetzki C, Delattre JY, Corvol JC; CoCo-Neurosciences Study Group. Delorme C, et al. Brain Commun. 2021 Jun 17;3(3):fcab135. doi: 10.1093/braincomms/fcab135. eCollection 2021. Brain Commun. 2021. PMID: 34401746 Free PMC article.
177 results