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

Year Number of Results
1974 1
1976 1
1977 1
1978 1
1980 2
1981 2
1982 1
1983 1
1984 1
1985 1
1986 3
1987 3
1989 2
1990 1
1992 3
1993 3
1994 3
1995 2
1996 4
1997 2
1998 5
1999 2
2000 4
2001 6
2002 5
2003 8
2004 8
2005 5
2006 7
2007 12
2008 12
2009 5
2010 9
2011 7
2012 7
2013 14
2014 19
2015 22
2016 18
2017 23
2018 15
2019 24
2020 17
2021 29
2022 16
2023 24
2024 5

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325 results

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Page 1
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ. Butterfield RJ. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. Continuum (Minneap Minn). 2019. PMID: 31794464 Review.
RECENT FINDINGS: Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features and histopathology; however, recent advances in genetics have changed diagnostic practice by relying more heavily on genetic finding …
RECENT FINDINGS: Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical f …
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C. Sewry CA, et al. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. J Muscle Res Cell Motil. 2019. PMID: 31228046 Free PMC article. Review.
Congenital myopathies.
Younger DS. Younger DS. Handb Clin Neurol. 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. Handb Clin Neurol. 2023. PMID: 37562885 Review.
However, in the past two decades, the genetic basis of these different forms of congenital myopathy has been further elucidated with the result being improved correlation with histological and genetic characteristics. ...
However, in the past two decades, the genetic basis of these different forms of congenital myopathy has been further elucidate …
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.
CONCLUSIONS: Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike the classic CNM genes that are all involved in excitation-contraction coupling at the triad, TTN encodes the giant sarcomeric protein titin, …
CONCLUSIONS: Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike t …
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Robinson R, et al. Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. Hum Mutat. 2006. PMID: 16917943 Review.
Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and three congenital myopathies, including central core disease (CCD), multiminicore disease (MmD), and in an isolated case of a congenital …
Mutations in the gene have been found in association with several diseases: the pharmacogenetic disorder, malignant hyperthermia (MH); and t …
Pediatric Neuromuscular Diseases.
Rathore G, Kang PB. Rathore G, et al. Pediatr Neurol. 2023 Dec;149:1-14. doi: 10.1016/j.pediatrneurol.2023.08.034. Epub 2023 Aug 29. Pediatr Neurol. 2023. PMID: 37757659 Review.
Distal Myopathies.
Felice KJ. Felice KJ. Neurol Clin. 2020 Aug;38(3):637-659. doi: 10.1016/j.ncl.2020.03.007. Epub 2020 Jun 11. Neurol Clin. 2020. PMID: 32703474 Review.
Muscle ultrasound.
Pillen S, Boon A, Van Alfen N. Pillen S, et al. Handb Clin Neurol. 2016;136:843-53. doi: 10.1016/B978-0-444-53486-6.00042-9. Handb Clin Neurol. 2016. PMID: 27430445 Review.
Congenital myopathies.
Romero NB, Clarke NF. Romero NB, et al. Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. Handb Clin Neurol. 2013. PMID: 23622357 Review.
Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific struct …
Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in …
Neonatal and infantile hypotonia.
Younger DS. Younger DS. Handb Clin Neurol. 2023;195:401-423. doi: 10.1016/B978-0-323-98818-6.00011-X. Handb Clin Neurol. 2023. PMID: 37562880 Review.
325 results