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1963
2025

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

Year Number of Results
1963 1
1969 1
1971 1
1972 2
1973 1
1974 1
1975 1
1976 3
1978 1
1979 3
1982 2
1983 4
1984 2
1985 2
1987 1
1988 1
1989 1
1990 1
1992 11
1993 14
1994 14
1995 13
1996 11
1997 14
1998 2
1999 7
2000 8
2001 6
2002 6
2003 8
2004 5
2005 13
2006 13
2007 8
2008 13
2009 6
2010 7
2011 10
2012 16
2013 10
2014 8
2015 4
2016 4
2017 6
2018 8
2019 15
2020 9
2021 10
2022 6
2023 5
2024 2
2025 0

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300 results

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Page 1
Peripheral nerve hyperexcitability.
Katirji B. Katirji B. Handb Clin Neurol. 2019;161:281-290. doi: 10.1016/B978-0-444-64142-7.00054-0. Handb Clin Neurol. 2019. PMID: 31307606 Review.
Peripheral nerve hyperexcitability syndromes should be distinguished from stiff person syndrome, myotonic disorders, and rippling muscle disease. When severe, Isaacs syndrome and Morvan syndrome may be disabling but often respond to membrane-sta …
Peripheral nerve hyperexcitability syndromes should be distinguished from stiff person syndrome, myotonic disorders, an …
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.
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel my …
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The …
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R. Mary P, et al. Orthop Traumatol Surg Res. 2018 Feb;104(1S):S89-S95. doi: 10.1016/j.otsr.2017.04.019. Epub 2017 Nov 28. Orthop Traumatol Surg Res. 2018. PMID: 29196274 Free article. Review.
Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavu …
Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paedia …
Molecular mechanisms underlying nucleotide repeat expansion disorders.
Malik I, Kelley CP, Wang ET, Todd PK. Malik I, et al. Nat Rev Mol Cell Biol. 2021 Sep;22(9):589-607. doi: 10.1038/s41580-021-00382-6. Epub 2021 Jun 17. Nat Rev Mol Cell Biol. 2021. PMID: 34140671 Free PMC article. Review.
Expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (C9orf72), polyglutamine-associated ataxias and Huntington disease, myotonic dystrophy, and …
Expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sc …
Repeat expansion diseases.
Paulson H. Paulson H. Handb Clin Neurol. 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9. Handb Clin Neurol. 2018. PMID: 29325606 Free PMC article. Review.
Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms …
Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic later …
Muscle channelopathies.
Statland J, Phillips L, Trivedi JR. Statland J, et al. Neurol Clin. 2014 Aug;32(3):801-15, x. doi: 10.1016/j.ncl.2014.04.002. Epub 2014 May 9. Neurol Clin. 2014. PMID: 25037091 Review.
This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, congenital myasthenic syndrome, and periodic paralyses....
This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, c …
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR. Chintalaphani SR, et al. Acta Neuropathol Commun. 2021 May 25;9(1):98. doi: 10.1186/s40478-021-01201-x. Acta Neuropathol Commun. 2021. PMID: 34034831 Free PMC article. Review.
They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington's disease, the hereditary cerebellar ataxias, amyotrophic lateral sclerosis and frontotemporal dementia. MAIN BODY: STR expansions a …
They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Hun …
Myotonic dystrophies.
Huang CC, Kuo HC. Huang CC, et al. Chang Gung Med J. 2005 Aug;28(8):517-26. Chang Gung Med J. 2005. PMID: 16265841 Free article. Review.
Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), myotonic dystrophy type 3 (DM3), and so forth. ...Recently, DM3 was reported to include a mu
Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1),
Myotonic syndromes.
Mankodi A, Thornton CA. Mankodi A, et al. Curr Opin Neurol. 2002 Oct;15(5):545-52. doi: 10.1097/00019052-200210000-00005. Curr Opin Neurol. 2002. PMID: 12351998 Review.
PURPOSE OF REVIEW: To highlight recent advances in understanding the clinical manifestations and molecular genetics of myotonic syndromes, with particular emphasis on the myotonic dystrophies. RECENT FINDINGS: Myotonic syndromes include the non- …
PURPOSE OF REVIEW: To highlight recent advances in understanding the clinical manifestations and molecular genetics of myotonic sy
300 results