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

Year Number of Results
1952 1
1954 2
1955 2
1956 3
1957 1
1961 1
1962 1
1963 1
1968 1
1969 1
1971 1
1973 1
1974 4
1975 1
1976 3
1977 4
1978 1
1979 1
1980 1
1981 5
1982 4
1983 2
1984 5
1985 6
1986 3
1987 4
1988 4
1989 11
1990 7
1991 11
1992 11
1993 18
1994 19
1995 27
1996 41
1997 38
1998 51
1999 46
2000 59
2001 55
2002 43
2003 71
2004 72
2005 96
2006 82
2007 93
2008 93
2009 93
2010 111
2011 109
2012 112
2013 137
2014 142
2015 150
2016 145
2017 135
2018 155
2019 144
2020 140
2021 151
2022 161
2023 156
2024 50

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2,816 results

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Page 1
The Limb-Girdle Muscular Dystrophies.
Johnson NE, Statland JM. Johnson NE, et al. Continuum (Minneap Minn). 2022 Dec 1;28(6):1698-1714. doi: 10.1212/CON.0000000000001178. Continuum (Minneap Minn). 2022. PMID: 36537976 Review.
This article describes the classification scheme, common subtypes, and the management of individuals with LGMD. RECENT FINDINGS: Advances in genetic testing and next-generation sequencing panels containing all of the LGMD genes have led to earlier genetic confirmati …
This article describes the classification scheme, common subtypes, and the management of individuals with LGMD. RECENT FINDINGS: Adva …
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). ...A total of 244 patients was identified; 68 LGMDR1/LGMD2A pat …
In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscu …
PYROXD1-associated myopathy.
D'Costa MS, Bugiardini E, Merve A, Morrow JM. D'Costa MS, et al. BMJ Case Rep. 2024 Mar 29;17(3):e259907. doi: 10.1136/bcr-2024-259907. BMJ Case Rep. 2024. PMID: 38553017
PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We d …
PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 …
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C. Fichna JP, et al. Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1. Hum Genomics. 2018. PMID: 29970176 Free PMC article.
BACKGROUND: Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. ...On average, 36.3 rare variants in genes associated with various muscle diseases per patient were found that could relate to the clinica …
BACKGROUND: Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms …
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
Marago I, Roberts M, Roncaroli F, DuPlessis D, Sewry C, Nagaraju S, Limbada F, Marini-Bettolo C, Hudson J, Banerjee S, Newton L, Bukhari M, Chinoy H, Lilleker JB. Marago I, et al. Rheumatology (Oxford). 2022 Apr 11;61(4):1645-1650. doi: 10.1093/rheumatology/keab553. Rheumatology (Oxford). 2022. PMID: 34264321
OBJECTIVES: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy) mimic the presentation. Here …
OBJECTIVES: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies …
Dystrophinopathies and Limb-Girdle Muscular Dystrophies.
Domingos J, Sarkozy A, Scoto M, Muntoni F. Domingos J, et al. Neuropediatrics. 2017 Aug;48(4):262-272. doi: 10.1055/s-0037-1601860. Epub 2017 Apr 20. Neuropediatrics. 2017. PMID: 28427100 Review.
Originally classified into dominant and recessive, > 30 genetic forms of LGMDs are currently recognized. Further understanding of the pathogenic mechanisms of LGMD will help identifying novel therapeutic approaches that can be tested in clinical trials....
Originally classified into dominant and recessive, > 30 genetic forms of LGMDs are currently recognized. Further understanding of the pat …
Limb-girdle muscular dystrophies.
Guglieri M, Straub V, Bushby K, Lochmüller H. Guglieri M, et al. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Curr Opin Neurol. 2008. PMID: 18769252 Review.
RECENT FINDINGS: Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the description of ne …
RECENT FINDINGS: Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been di …
The Limb-Girdle Muscular Dystrophies.
Wicklund MP. Wicklund MP. Continuum (Minneap Minn). 2019 Dec;25(6):1599-1618. doi: 10.1212/CON.0000000000000809. Continuum (Minneap Minn). 2019. PMID: 31794462 Review.
Diagnosis of the LGMDs was long guided by the distinctive clinical characteristics of each particular subtype but now integrates use of genetics-with next-generation sequencing panels, exomes, and full genome analysis-early in the diagnostic assessment. Appreciation of the phenot …
Diagnosis of the LGMDs was long guided by the distinctive clinical characteristics of each particular subtype but now integrates use of gene …
Functions of Vertebrate Ferlins.
Bulankina AV, Thoms S. Bulankina AV, et al. Cells. 2020 Feb 25;9(3):534. doi: 10.3390/cells9030534. Cells. 2020. PMID: 32106631 Free PMC article. Review.
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopathies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. ...
Mutations in DYSF (dysferlin) can cause a range of muscle diseases with various clinical manifestations collectively known as dysferlinopath …
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Aguti S, Gallus GN, Bianchi S, Salvatore S, Rubegni A, Berti G, Formichi P, De Stefano N, Malandrini A, Lopergolo D. Aguti S, et al. Cells. 2024 Feb 10;13(4):329. doi: 10.3390/cells13040329. Cells. 2024. PMID: 38391941 Free PMC article.
OBJECTIVE: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). BACKGROUND: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK leve …
OBJECTIVE: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy ( …
2,816 results