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

Year Number of Results
1975 1
1979 1
1980 1
1981 3
1983 2
1984 1
1985 1
1988 2
1994 2
1995 2
1996 5
1997 3
1999 2
2000 3
2002 4
2003 4
2004 3
2005 3
2006 2
2007 2
2008 5
2009 4
2010 5
2011 7
2012 2
2013 8
2014 10
2015 5
2016 12
2017 8
2018 5
2019 2
2020 2
2021 6
2022 4
2023 3
2024 3

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125 results

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Page 1
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: barresi r. 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.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: barresi r. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662
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: barresi r. 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.
Muscular dystrophy in dysferlin-deficient mouse models.
Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K. Hornsey MA, et al. Among authors: barresi r. Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7. Neuromuscul Disord. 2013. PMID: 23473732 Review.
Prediction of rehabilitation induced motor recovery after stroke using a multi-dimensional and multi-modal approach.
Salvalaggio S, Turolla A, Andò M, Barresi R, Burgio F, Busan P, Cortese AM, D'Imperio D, Danesin L, Ferrazzi G, Maistrello L, Mascotto E, Parrotta I, Pezzetta R, Rigon E, Vedovato A, Zago S, Zorzi M, Arcara G, Mantini D, Filippini N. Salvalaggio S, et al. Among authors: barresi r. Front Aging Neurosci. 2023 Jul 4;15:1205063. doi: 10.3389/fnagi.2023.1205063. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37469951 Free PMC article.
Laparoscopic adrenalectomy.
Barresi RV, Prinz RA. Barresi RV, et al. Arch Surg. 1999 Feb;134(2):212-7. doi: 10.1001/archsurg.134.2.212. Arch Surg. 1999. PMID: 10025466
Dysferlin mutations and mitochondrial dysfunction.
Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Among authors: barresi r. Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29. Neuromuscul Disord. 2016. PMID: 27666772 Free PMC article.
Alcoholism and alienation.
Calicchia JP, Barresi RM. Calicchia JP, et al. Among authors: barresi rm. J Clin Psychol. 1975 Oct;31(4):770-5. doi: 10.1002/1097-4679(197510)31:4<770::aid-jclp2270310448>3.0.co;2-3. J Clin Psychol. 1975. PMID: 1194440
125 results