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

Year Number of Results
1954 1
1956 1
1964 1
1965 1
1966 1
1967 1
1969 2
1978 1
1983 1
1984 1
1985 1
1986 2
1987 3
1988 1
1989 2
1990 2
1992 1
1993 2
1994 1
1996 1
1997 1
1999 1
2003 2
2004 1
2005 4
2006 3
2007 1
2008 5
2009 2
2010 4
2011 4
2012 4
2013 9
2014 13
2015 17
2016 19
2017 19
2018 14
2019 12
2020 20
2021 24
2022 13
2023 13
2024 6

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212 results

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Page 1
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Distal myopathy.
Savarese M, Jokela M, Udd B. Savarese M, et al. Handb Clin Neurol. 2023;195:497-519. doi: 10.1016/B978-0-323-98818-6.00002-9. Handb Clin Neurol. 2023. PMID: 37562883 Review.
Salih Myopathy.
Hackman P, Savarese M, Carmignac V, Udd B, Salih MA. Hackman P, et al. Among authors: savarese m. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22238790 Free Books & Documents. Review.
Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: savarese m. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. Hum Mutat. 2022. PMID: 36116040 Free PMC article. Review.
Use of animal models to understand titin physiology and pathology.
Marcello M, Cetrangolo V, Savarese M, Udd B. Marcello M, et al. Among authors: savarese m. J Cell Mol Med. 2022 Oct;26(20):5103-5112. doi: 10.1111/jcmm.17533. Epub 2022 Sep 6. J Cell Mol Med. 2022. PMID: 36065969 Free PMC article. Review.
Scapuloperoneal syndrome with mitochondrial DNA deletion.
Pichette É, O'Ferrall E, Karamchandani J, Savarese M, Udd B, Massie R. Pichette É, et al. Among authors: savarese m. J Neurol Sci. 2022 Mar 15;434:120164. doi: 10.1016/j.jns.2022.120164. Epub 2022 Jan 29. J Neurol Sci. 2022. PMID: 35121208 No abstract available.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: savarese m. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
212 results