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
2010 1
2011 2
2012 1
2013 3
2014 4
2015 3
2016 8
2017 8
2018 6
2019 5
2020 12
2021 13
2022 7
Text availability
Article attribute
Article type
Publication date

Search Results

59 results
Results by year
Filters applied: . Clear all
Page 1
'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: rendu 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.
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: rendu 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.
Ornithine Transcarbamylase - From Structure to Metabolism: An Update.
Couchet M, Breuillard C, Corne C, Rendu J, Morio B, Schlattner U, Moinard C. Couchet M, et al. Among authors: rendu j. Front Physiol. 2021 Oct 1;12:748249. doi: 10.3389/fphys.2021.748249. eCollection 2021. Front Physiol. 2021. PMID: 34658931 Free PMC article. Review.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. François-Heude MC, et al. Among authors: rendu j. Eur J Paediatr Neurol. 2021 Mar;31:78-87. doi: 10.1016/j.ejpn.2021.01.011. Epub 2021 Feb 17. Eur J Paediatr Neurol. 2021. PMID: 33667896
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. Biancalana V, et al. Among authors: rendu j. Acta Neuropathol Commun. 2021 Sep 17;9(1):155. doi: 10.1186/s40478-021-01254-y. Acta Neuropathol Commun. 2021. PMID: 34535181 Free PMC article.
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, Travard L, Chivet M, Beaufils M, Kutchukian C, Bendahan D, Metzger D, Franzini Armstrong C, Romero NB, Rendu J, Jacquemond V, Fauré J, Marty I. Pelletier L, et al. Among authors: rendu j. Acta Neuropathol Commun. 2020 Nov 11;8(1):192. doi: 10.1186/s40478-020-01068-4. Acta Neuropathol Commun. 2020. PMID: 33176865 Free PMC article.
Variations in the TRPV1 gene are associated to exertional heat stroke.
Bosson C, Rendu J, Pelletier L, Abriat A, Chatagnon A, Brocard J, Brocard J, Figarella-Branger D, Ducreux S, van Coppenolle F, Sagui E, Marty I, Roux-Buisson N, Faure J. Bosson C, et al. Among authors: rendu j. J Sci Med Sport. 2020 Nov;23(11):1021-1027. doi: 10.1016/j.jsams.2020.04.018. Epub 2020 May 18. J Sci Med Sport. 2020. PMID: 32471784
Congenital Nemaline Myopathy with Dense Protein Masses.
Bevilacqua JA, Malfatti E, Labasse C, Brochier G, Madelaine A, Lacène E, Doray B, Laforêt P, Eymard B, Rendu J, Romero NB. Bevilacqua JA, et al. Among authors: rendu j. J Neuropathol Exp Neurol. 2022 Mar 29;81(4):304-307. doi: 10.1093/jnen/nlab139. J Neuropathol Exp Neurol. 2022. PMID: 35139532 No abstract available.
59 results