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

Year Number of Results
1981 1
1984 2
1985 4
1987 2
1988 3
1989 8
1990 9
1991 4
1992 4
1993 8
1994 10
1995 8
1996 12
1997 9
1998 13
1999 15
2000 25
2001 30
2002 17
2003 21
2004 25
2005 18
2006 31
2007 35
2008 28
2009 25
2010 21
2011 36
2012 32
2013 45
2014 24
2015 22
2016 18
2017 25
2018 22
2019 23
2020 21
2021 15
2022 17
2023 10
2024 14

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644 results

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Page 1
Expanding the Phenotypic Spectrum of Desminopathy.
Hespe S, Ingles J. Hespe S, et al. JACC Clin Electrophysiol. 2024 Jun;10(6):1191-1193. doi: 10.1016/j.jacep.2024.03.039. JACC Clin Electrophysiol. 2024. PMID: 38925721 No abstract available.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
Bermudez-Jimenez FJ, Protonotarios A, García-Hernández S, Pérez Asensio A, Rampazzo A, Zorio E, Brodehl A, Arias MA, Macías-Ruiz R, Fernández-Armenta J, Remior Perez P, Muñoz-Esparza C, Pilichou K, Bauce B, Merino JL, Moliner-Abós C, Ochoa JP, Barriales-Villa R, Garcia-Pavia P, Lopes LR, Syrris P, Corrado D, Elliott PM, McKenna WJ, Jimenez-Jaimez J. Bermudez-Jimenez FJ, et al. JACC Clin Electrophysiol. 2024 Jun;10(6):1178-1190. doi: 10.1016/j.jacep.2024.02.031. Epub 2024 May 8. JACC Clin Electrophysiol. 2024. PMID: 38727660
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H. Polavarapu K, et al. Neuromuscul Disord. 2024 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. Neuromuscul Disord. 2024. PMID: 38669730
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Geryk M, Canac R, Forest V, Lindenbaum P, Girardeau A, Baudic M, Baron E, Bibonne A, Chariau C, Kyndt F, Redon R, Schott JJ, Gourraud JB, Barc J, Charpentier F. Geryk M, et al. Stem Cell Res. 2024 Jun;77:103396. doi: 10.1016/j.scr.2024.103396. Epub 2024 Mar 21. Stem Cell Res. 2024. PMID: 38522388 Free article.
644 results
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