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

Year Number of Results
1972 1
1977 1
1980 1
1987 2
1989 1
1990 2
1991 3
1993 3
1996 1
1997 4
1998 3
1999 5
2000 3
2001 3
2002 5
2003 5
2004 7
2005 9
2006 4
2007 7
2008 4
2009 5
2010 8
2011 5
2012 11
2013 6
2014 5
2015 3
2016 5
2017 7
2018 15
2019 10
2020 11
2021 14
2022 10
2023 7

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178 results

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Page 1
Myotonic dystrophy.
Thornton CA. Thornton CA. Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6. Neurol Clin. 2014. PMID: 25037086 Free PMC article. Review.
Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, whi …
Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent …
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.
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophies, …
The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropat …
Myotonic Dystrophy.
Hamel JI. Hamel JI. Continuum (Minneap Minn). 2022 Dec 1;28(6):1715-1734. doi: 10.1212/CON.0000000000001184. Continuum (Minneap Minn). 2022. PMID: 36537977 Review.
PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. ...RECENT FINDINGS: Studies of the multisystem involvement o …
PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders aff …
Muscle type and fiber type specificity in muscle wasting.
Ciciliot S, Rossi AC, Dyar KA, Blaauw B, Schiaffino S. Ciciliot S, et al. Int J Biochem Cell Biol. 2013 Oct;45(10):2191-9. doi: 10.1016/j.biocel.2013.05.016. Epub 2013 May 21. Int J Biochem Cell Biol. 2013. PMID: 23702032 Review.
Muscle wasting occurs in a variety of conditions, including both genetic diseases, such as muscular dystrophies, and acquired disorders, ranging from muscle disuse to cancer cachexia, from heart failure to aging sarcopenia. In most of these conditions, the lo …
Muscle wasting occurs in a variety of conditions, including both genetic diseases, such as muscular dystrophies, and acquired …
Molecular Mechanisms of Muscle Fatigue.
Constantin-Teodosiu D, Constantin D. Constantin-Teodosiu D, et al. Int J Mol Sci. 2021 Oct 27;22(21):11587. doi: 10.3390/ijms222111587. Int J Mol Sci. 2021. PMID: 34769017 Free PMC article. Review.
The leading cause underpinning the development of chronic fatigue is related to muscle wasting mediated by aging, immobilization, insulin resistance (through high-fat dietary intake or pharmacologically mediated Peroxisome Proliferator-Activated Receptor (PPAR) agonism), diseases …
The leading cause underpinning the development of chronic fatigue is related to muscle wasting mediated by aging, immobilization, insulin re …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L. Zrelski MM, et al. Cells. 2021 Sep 19;10(9):2480. doi: 10.3390/cells10092480. Cells. 2021. PMID: 34572129 Free PMC article. Review.
The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characterized by skin blistering and progressive muscle weakness. Besides EBS-MD, PLEC mutations lead to EBS with nail dystrophy, …
The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which …
Myotonic Muscular Dystrophies.
Johnson NE. Johnson NE. Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695. doi: 10.1212/CON.0000000000000793. Continuum (Minneap Minn). 2019. PMID: 31794466 Review.
PURPOSE OF REVIEW: This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystrophy type 1 and myotonic dystrophy type 2. RECENT FINDINGS: The prevalence of myotonic dystrophy type 1 …
PURPOSE OF REVIEW: This article describes the clinical features, pathogenesis, prevalence, diagnosis, and management of myotonic dystroph …
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
Wang DN, Wang ZQ, Chen YQ, Xu GR, Lin MT, Wang N. Wang DN, et al. Int J Neurosci. 2018 Mar;128(3):199-207. doi: 10.1080/00207454.2017.1380640. Epub 2017 Oct 2. Int J Neurosci. 2018. PMID: 28931339 Review.
BACKGROUND: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mutations in the fukutin-related protein (FKRP) gene. ...Compound heterozygous Asian patients have a mild phenotype but frequently show respira …
BACKGROUND: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mut …
What is in the Myopathy Literature?
Lacomis D. Lacomis D. J Clin Neuromuscul Dis. 2019 Sep;21(1):7-13. doi: 10.1097/CND.0000000000000261. J Clin Neuromuscul Dis. 2019. PMID: 31453849 Review.
Several articles address respiratory dysfunction in myotonic dystrophy type 1, reporting that its severity is associated with the CTG-repeat size, age, and degree of muscle weakness. ...Finally, a form of 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopa …
Several articles address respiratory dysfunction in myotonic dystrophy type 1, reporting that its severity is associated with …
178 results