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

Year Number of Results
1982 2
1991 2
1992 4
1993 4
1996 3
1997 1
1998 5
1999 1
2000 1
2001 5
2002 8
2003 8
2004 5
2005 12
2006 8
2007 6
2008 12
2009 7
2010 18
2011 15
2012 19
2013 14
2014 19
2015 20
2016 24
2017 15
2018 22
2019 26
2020 16
2021 15
2022 8
2023 18
2024 20

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320 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. Among authors: udd b. 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. Among authors: udd b. 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. Among authors: udd b. Handb Clin Neurol. 2023;195:497-519. doi: 10.1016/B978-0-323-98818-6.00002-9. Handb Clin Neurol. 2023. PMID: 37562883 Review.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: udd b. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Udd Distal Myopathy – Tibial Muscular Dystrophy.
Udd B, Hackman P. Udd B, et al. 2005 Feb 17 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Feb 17 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301498 Free Books & Documents. Review.
Salih Myopathy.
Hackman P, Savarese M, Carmignac V, Udd B, Salih MA. Hackman P, et al. Among authors: udd b. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, 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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22238790 Free Books & Documents. Review.
Distal myopathies.
Udd B. Udd B. Curr Neurol Neurosci Rep. 2014 Mar;14(3):434. doi: 10.1007/s11910-013-0434-4. Curr Neurol Neurosci Rep. 2014. PMID: 24477389 Review.
ANO5 Muscle Disease.
Penttilä S, Vihola A, Palmio J, Udd B. Penttilä S, et al. Among authors: udd b. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Nov 29 [updated 2019 Aug 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23193613 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: udd b. 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.
Distal myopathies.
Udd B, Griggs R. Udd B, et al. Curr Opin Neurol. 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. Curr Opin Neurol. 2001. PMID: 11562566 Review.
320 results