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

Year Number of Results
1987 1
1988 1
1989 2
1990 3
1992 1
1993 6
1994 1
1995 3
1996 4
1997 4
1998 6
1999 4
2000 6
2001 8
2002 11
2003 13
2004 10
2005 17
2006 15
2007 12
2008 17
2009 16
2010 14
2011 15
2012 15
2013 23
2014 38
2015 22
2016 20
2017 24
2018 27
2019 40
2020 39
2021 31
2022 10
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420 results
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Page 1
Titin mutations and muscle disease.
Kellermayer D, Smith JE 3rd, Granzier H. Kellermayer D, et al. Pflugers Arch. 2019 May;471(5):673-682. doi: 10.1007/s00424-019-02272-5. Epub 2019 Mar 27. Pflugers Arch. 2019. PMID: 30919088 Free PMC article. Review.
The introduction of next-generation sequencing technology has revealed that mutations in the gene that encodes titin (TTN) are linked to multiple skeletal and cardiac myopathies. ...We highlight that exon skipping might provide a possible therapeutic avenue to addre …
The introduction of next-generation sequencing technology has revealed that mutations in the gene that encodes titin (TTN) are linked …
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
RESULTS: Autosomal recessive compound heterozygous truncating mutations of the titin gene, TTN, were identified in 5 individuals. Biochemical analyses demonstrated increased titin degradation and truncated titin proteins in patient muscles, establishing the i …
RESULTS: Autosomal recessive compound heterozygous truncating mutations of the titin gene, TTN, were identified in 5 individuals. Bio …
Emery-Dreifuss muscular dystrophy.
Heller SA, Shih R, Kalra R, Kang PB. Heller SA, et al. Muscle Nerve. 2020 Apr;61(4):436-448. doi: 10.1002/mus.26782. Epub 2019 Dec 28. Muscle Nerve. 2020. PMID: 31840275 Free PMC article. Review.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life-threatening cardiac complications. ...Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding …
Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to freque …
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Savarese M, et al. J Neuromuscul Dis. 2016 Aug 30;3(3):293-308. doi: 10.3233/JND-160158. J Neuromuscul Dis. 2016. PMID: 27854229 Free PMC article. Review.
The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and seve …
The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. …
Overview of the Muscle Cytoskeleton.
Henderson CA, Gomez CG, Novak SM, Mi-Mi L, Gregorio CC. Henderson CA, et al. Compr Physiol. 2017 Jun 18;7(3):891-944. doi: 10.1002/cphy.c160033. Compr Physiol. 2017. PMID: 28640448 Free PMC article. Review.
The sarcomere is comprised of precisely organized individual filament systems that include thin (actin), thick (myosin), titin, and nebulin. Connecting the sarcomere to other organelles (e.g., mitochondria and nucleus) and serving as the scaffold to maintain cellular integ …
The sarcomere is comprised of precisely organized individual filament systems that include thin (actin), thick (myosin), titin, and n …
Salih Myopathy.
Hackman P, Savarese M, Carmignac V, Udd B, Salih MA. Hackman P, et al. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2012 Jan 12 [updated 2019 Apr 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 22238790 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. ...Agents/circumstances to avoi …
CLINICAL CHARACTERISTICS: Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy …
420 results