Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1972
2025

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 12
2021 17
2022 12
2023 9
2024 8
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

193 results

Results by year

Filters applied: . Clear all
Page 1
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 …
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 …
Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.
Liao Q, Zhang Y, He J, Huang K. Liao Q, et al. Neuroepidemiology. 2022;56(3):163-173. doi: 10.1159/000524734. Epub 2022 Apr 28. Neuroepidemiology. 2022. PMID: 35483324 Free article.
INTRODUCTION: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the diff …
INTRODUCTION: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited …
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 …
Duchenne Muscular Dystrophy Gene Therapy.
Saad FA, Saad JF, Siciliano G, Merlini L, Angelini C. Saad FA, et al. Curr Gene Ther. 2024;24(1):17-28. doi: 10.2174/1566523223666221118160932. Curr Gene Ther. 2024. PMID: 36411557 Review.
Duchenne and Becker muscular dystrophies are allelic X-linked recessive neuromuscular diseases affecting both skeletal and cardiac muscles. ...In this review, we highlight current opportunities for Duchenne muscular dystrophy gene therapy, which …
Duchenne and Becker muscular dystrophies are allelic X-linked recessive neuromuscular diseases affecting both skeletal and …
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 …
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 …
193 results