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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 33
2020 17
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365 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 …
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA. Unger A, et al. Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0. Acta Neuropathol Commun. 2017. PMID: 28915917 Free PMC article.
Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls. ...The titin-binding pattern of chaperones was regularly observed in Duchenn …
Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but foun …
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article. Clinical Trial.
IMPORTANCE: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size. ...Titin mutations were detected through targeted resequ …
IMPORTANCE: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous ra …
Titin fragment in urine: A noninvasive biomarker of muscle degradation.
Matsuo M, Awano H, Maruyama N, Nishio H. Matsuo M, et al. Adv Clin Chem. 2019;90:1-23. doi: 10.1016/bs.acc.2019.01.001. Epub 2019 Mar 5. Adv Clin Chem. 2019. PMID: 31122607 Review.
Titin/connectin, encoded by the TTN gene, is the largest protein in humans. It acts as a molecular spring in the sarcomere of striated muscles. Although titin is degraded in the skeletal muscles of patients with muscular dystrophies, studies of titi …
Titin/connectin, encoded by the TTN gene, is the largest protein in humans. It acts as a molecular spring in the sarcomere of …
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker.
Misaka T, Yoshihisa A, Takeishi Y. Misaka T, et al. Clin Chim Acta. 2019 Aug;495:123-128. doi: 10.1016/j.cca.2019.04.005. Epub 2019 Apr 5. Clin Chim Acta. 2019. PMID: 30959043 Review.
Mutations of TTN are causally related to specific types of muscular dystrophies and cardiomyopathies. A developed methodology of next generation sequencing has recently led to the identification of novel TTN mutations in such diseases. The clinical significance of …
Mutations of TTN are causally related to specific types of muscular dystrophies and cardiomyopathies. A developed methodology of next …
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. …
Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy.
Onda A, Miyagawa S, Takahashi N, Gochi M, Takagi M, Nishino I, Suzuki S, Oishi C, Yaguchi H. Onda A, et al. Intern Med. 2019 Jun 1;58(11):1635-1638. doi: 10.2169/internalmedicine.1956-18. Epub 2019 Feb 1. Intern Med. 2019. PMID: 30713313 Free PMC article.
Muscle pathology showed necrotizing myopathy with tubular aggregates. Unlike previously reported cases of pembrolizumab-associated MG, the present case showed ocular MG. This is the first case of pembrolizumab-associated MG with anti-titin antibody, as well as the f …
Muscle pathology showed necrotizing myopathy with tubular aggregates. Unlike previously reported cases of pembrolizumab-associated MG …
[A case of anti-titin antibody positive nivolumab-related necrotizing myopathy with myasthenia gravis].
Isami A, Uchiyama A, Shimaoka Y, Suzuki S, Kawachi I, Fujita N. Isami A, et al. Rinsho Shinkeigaku. 2019 Jul 31;59(7):431-435. doi: 10.5692/clinicalneurol.cn-001270. Epub 2019 Jun 27. Rinsho Shinkeigaku. 2019. PMID: 31243249 Japanese.
Positivity for anti-titin antibody, one of the anti-striated muscle antibodies, was evident. The patient was diagnosed as having nivolumab-related necrotizing myopathy with myasthenia gravis, an immune-related adverse event (irAE). ...On the basis of the muscle path …
Positivity for anti-titin antibody, one of the anti-striated muscle antibodies, was evident. The patient was diagnosed as having nivo …
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Vincent AE, et al. Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10. Neuromuscul Disord. 2016. PMID: 27618136 Free PMC article.
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. ...More strikingly, a significantly higher percentage of myofibrillar myopathy patient muscle fibres have a low mitocho …
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protei …
Inflammatory myopathy with myasthenia gravis: Thymoma association and polymyositis pathology.
Uchio N, Taira K, Ikenaga C, Kadoya M, Unuma A, Yoshida K, Nakatani-Enomoto S, Hatanaka Y, Sakurai Y, Shiio Y, Kaida K, Kubota A, Toda T, Shimizu J. Uchio N, et al. Neurol Neuroimmunol Neuroinflamm. 2018 Dec 24;6(2):e535. doi: 10.1212/NXI.0000000000000535. eCollection 2019 Mar. Neurol Neuroimmunol Neuroinflamm. 2018. PMID: 30697585 Free PMC article.
OBJECTIVE: To provide evidence that idiopathic inflammatory myopathy (IM) with myasthenia gravis (MG) frequently shows thymoma association and polymyositis (PM) pathology and shares clinicopathologic characteristics with IM induced by immune checkpoint inhibitors (ICIs). . …
OBJECTIVE: To provide evidence that idiopathic inflammatory myopathy (IM) with myasthenia gravis (MG) frequently shows thymoma associ …
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