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Year Number of Results
2002 1
2004 2
2005 1
2006 1
2008 2
2009 2
2010 1
2011 1
2012 3
2013 2
2014 4
2015 5
2016 6
2017 5
2018 9
2019 10
2020 10
2021 6
2022 6
2023 5
2024 0

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65 results

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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: faure j. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: faure j. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Diagnostic biologique des angioedèmes bradykiniques : les recommandations du CREAK.
Bouillet L, Defendi F, Hardy G, Cesbron JY, Boccon-Gibod I, Deroux A, Mansard C, Launay D, Gompel A, Floccard B, Jaussaud R, Beaudouin E, Armengol G, Olliver Y, Gayet S, Du Than A, Sailler L, Guez S, Sarrat A, Sorin L, de Moreuil C, Pelletier F, Javaud N, Marmion N, Fain O, Fauré J, Dumestre-Pérard C. Bouillet L, et al. Among authors: faure j. Presse Med. 2019 Jan;48(1 Pt 1):55-62. doi: 10.1016/j.lpm.2018.06.015. Epub 2018 Nov 8. Presse Med. 2019. PMID: 30416009 French.
Gene therapies for RyR1-related myopathies.
Marty I, Beaufils M, Fauré J, Rendu J. Marty I, et al. Among authors: faure j. Curr Opin Pharmacol. 2023 Feb;68:102330. doi: 10.1016/j.coph.2022.102330. Epub 2022 Dec 16. Curr Opin Pharmacol. 2023. PMID: 36529094 Review.
Response to Hall et al.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw D, Janssen PM; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Among authors: faure j. Am J Hum Genet. 2020 Dec 3;107(6):1188-1189. doi: 10.1016/j.ajhg.2020.11.006. Am J Hum Genet. 2020. PMID: 33275912 Free PMC article. No abstract available.
International Triadin Knockout Syndrome Registry.
Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, Balaji S, Crotti L, Faure J, Napolitano C, Priori SG, Probst V, Rooryck-Thambo C, Roux-Buisson N, Sacher F, Schwartz PJ, Silka MJ, Walsh MA, Ackerman MJ. Clemens DJ, et al. Among authors: faure j. Circ Genom Precis Med. 2019 Feb;12(2):e002419. doi: 10.1161/CIRCGEN.118.002419. Circ Genom Precis Med. 2019. PMID: 30649896 Free article.
Huntingtin regulates calcium fluxes in skeletal muscle.
Chivet M, McCluskey M, Nicot AS, Brocard J, Beaufils M, Giovannini D, Giannesini B, Poreau B, Brocard J, Humbert S, Saudou F, Fauré J, Marty I. Chivet M, et al. Among authors: faure j. J Gen Physiol. 2023 Jan 2;155(1):e202213103. doi: 10.1085/jgp.202213103. Epub 2022 Nov 21. J Gen Physiol. 2023. PMID: 36409218 Free PMC article.
Triadin: what possible function 20 years later?
Marty I, Fauré J, Fourest-Lieuvin A, Vassilopoulos S, Oddoux S, Brocard J. Marty I, et al. Among authors: faure j. J Physiol. 2009 Jul 1;587(Pt 13):3117-21. doi: 10.1113/jphysiol.2009.171892. Epub 2009 Apr 29. J Physiol. 2009. PMID: 19403623 Free PMC article. Review.
65 results