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513 results

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Page 1
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: santi m. Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30. Neuromuscul Disord. 2017. PMID: 28818389
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A. Chauveau C, et al. Among authors: santi m. Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105469 Free PMC article.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. Foley AR, et al. Among authors: santi m. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. Ann Neurol. 2020. PMID: 32403198 Free PMC article.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: santi m. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.
Guadagnin E, Mohassel P, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG. Guadagnin E, et al. Among authors: santi m. Ann Clin Transl Neurol. 2021 Nov;8(11):2184-2198. doi: 10.1002/acn3.51450. Epub 2021 Nov 2. Ann Clin Transl Neurol. 2021. PMID: 34729958 Free PMC article.
SETD2 mutations in primary central nervous system tumors.
Viaene AN, Santi M, Rosenbaum J, Li MM, Surrey LF, Nasrallah MP. Viaene AN, et al. Among authors: santi m. Acta Neuropathol Commun. 2018 Nov 12;6(1):123. doi: 10.1186/s40478-018-0623-0. Acta Neuropathol Commun. 2018. PMID: 30419952 Free PMC article.
SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression.
Doucet-O'Hare TT, DiSanza BL, DeMarino C, Atkinson AL, Rosenblum JS, Henderson LJ, Johnson KR, Kowalak J, Garcia-Montojo M, Allen SJ, Orr BA, Santi M, Wang T, Fathi S, Lee MH, Sampson K, Li W, Zhuang Z, Nath A. Doucet-O'Hare TT, et al. Among authors: santi m. Sci Rep. 2021 Jun 18;11(1):12893. doi: 10.1038/s41598-021-92223-x. Sci Rep. 2021. PMID: 34145313 Free PMC article.
513 results