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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB. Bui MT, et al. Among authors: romero nb. Acta Neuropathol Commun. 2024 Dec 20;12(1):191. doi: 10.1186/s40478-024-01882-0. Acta Neuropathol Commun. 2024. PMID: 39707553 Free PMC article.
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: romero nb. J Neurol Neurosurg Psychiatry. 2024 Oct 24:jnnp-2024-334263. doi: 10.1136/jnnp-2024-334263. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39448255 Free article.
Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation.
Beaufils M, Melka M, Brocard J, Benoit C, Debbah N, Mamchaoui K, Romero NB, Dalmas-Laurent AF, Quijano-Roy S, Fauré J, Rendu J, Marty I. Beaufils M, et al. Among authors: romero nb. Mol Ther Nucleic Acids. 2024 Jun 17;35(3):102259. doi: 10.1016/j.omtn.2024.102259. eCollection 2024 Sep 10. Mol Ther Nucleic Acids. 2024. PMID: 39071953 Free PMC article.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: romero nb. Stem Cell Res. 2024 Jun;77:103410. doi: 10.1016/j.scr.2024.103410. Epub 2024 Mar 30. Stem Cell Res. 2024. PMID: 38583293 Free article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: romero nb. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
226 results