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2025

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Year Number of Results
1963 1
1964 1
1965 1
1967 1
1968 1
1969 1
1970 2
1971 4
1972 1
1974 1
1976 2
1977 2
1978 1
1979 3
1980 1
1982 3
1983 1
1984 1
1985 3
1987 1
1988 3
1989 2
1990 2
1991 2
1992 4
1993 9
1994 2
1995 7
1996 5
1997 5
1998 1
1999 5
2000 4
2001 5
2002 4
2003 3
2004 2
2005 2
2006 2
2007 5
2008 4
2010 1
2011 2
2013 3
2014 2
2015 1
2016 4
2017 3
2018 4
2019 3
2020 7
2021 1
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2023 3
2024 1
2025 0

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142 results

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Page 1
Muscle channelopathies.
Vivekanandam V, Jayaseelan D, Hanna MG. Vivekanandam V, et al. Handb Clin Neurol. 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. Handb Clin Neurol. 2023. PMID: 37562884 Review.
The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis, hyperkalemic periodic paralysi …
The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, …
Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical …
Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symp …
Pediatric neuromuscular channelopathies.
Vivekanandam V, Munot P, Jayaseelan DL. Vivekanandam V, et al. Handb Clin Neurol. 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. Handb Clin Neurol. 2024. PMID: 39174243 Review.
The nondystrophic myotonias encompass myotonia congenita, paramyotonia congenita, and sodium channel myotonia caused by mutations in chloride and sodium channels. The clinical manifestations vary across age groups and a small subset with sodium channel …
The nondystrophic myotonias encompass myotonia congenita, paramyotonia congenita, and sodium channel myotonia ca …
Diagnostics in skeletal muscle channelopathies.
Vicino A, Brugnoni R, Maggi L. Vicino A, et al. Expert Rev Mol Diagn. 2023 Jul-Dec;23(12):1175-1193. doi: 10.1080/14737159.2023.2288258. Epub 2023 Dec 15. Expert Rev Mol Diagn. 2023. PMID: 38009256 Review.
AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. ...Detailed personal and family history and clinical examin …
AREAS COVERED: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, …
Myotonia congenita.
Lossin C, George AL Jr. Lossin C, et al. Adv Genet. 2008;63:25-55. doi: 10.1016/S0065-2660(08)01002-X. Adv Genet. 2008. PMID: 19185184 Review.
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. The disorder may be transmitte
Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chlorid
Myotonia congenita.
Gutmann L, Phillips LH 2nd. Gutmann L, et al. Semin Neurol. 1991 Sep;11(3):244-8. doi: 10.1055/s-2008-1041228. Semin Neurol. 1991. PMID: 1947487 Review.
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. Recessive MC patients have more weakness than patients with do
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia
Myopathies.
Glasberg MR. Glasberg MR. Neurosurgery. 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. Neurosurgery. 1979. PMID: 392333 Review.
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular dystrophy; myotonic disorders; glycogen storage diseases; disorders of lipid metabolism; mitochondrial diseases; and congenital muscl …
The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne muscular …
The nondystrophic myotonias.
Heatwole CR, Moxley RT 3rd. Heatwole CR, et al. Neurotherapeutics. 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. Neurotherapeutics. 2007. PMID: 17395134 Free article. Review.
The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myo …
The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, …
Skeletal Muscle Channelopathies.
Vivekanandam V, Munot P, Hanna MG, Matthews E. Vivekanandam V, et al. Neurol Clin. 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. Neurol Clin. 2020. PMID: 32703462 Review.
Anaesthesia and myotonia.
Russell SH, Hirsch NP. Russell SH, et al. Br J Anaesth. 1994 Feb;72(2):210-6. doi: 10.1093/bja/72.2.210. Br J Anaesth. 1994. PMID: 8110575 Free article. Review. No abstract available.
142 results