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Year Number of Results
2016 5
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2020 14
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119 results

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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). ...A highly heterogeneous presentation of Limb Girdle Muscular …
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of thes …
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. Sframeli M, et al. Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28688748
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. ...Pathogenic allelic mutations in one of t …
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few ye …
Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature.
Salvati A, Bonaventura E, Sesso G, Pasquariello R, Sicca F. Salvati A, et al. Seizure. 2021 Oct;91:425-436. doi: 10.1016/j.seizure.2021.07.020. Epub 2021 Jul 21. Seizure. 2021. PMID: 34325301 Free article.
Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset and main manifestation, even in the absence of overt muscle involvement. ...In view of this knowledge gap, we conducted a systemati …
Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent i …
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.
Bouman K, Gubbels M, van den Heuvel FMA, Groothuis JT, Erasmus CE, Nijveldt R, Udink Ten Cate FEA, Voermans NC. Bouman K, et al. Neuromuscul Disord. 2022 Aug;32(8):635-642. doi: 10.1016/j.nmd.2022.06.004. Epub 2022 Jun 23. Neuromuscul Disord. 2022. PMID: 35868898 Free article. Review.
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. ...All studies, case reports and case series wi …
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscu …
Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies.
Yurchenco PD, McKee KK, Reinhard JR, Rüegg MA. Yurchenco PD, et al. Matrix Biol. 2018 Oct;71-72:174-187. doi: 10.1016/j.matbio.2017.11.009. Epub 2017 Nov 27. Matrix Biol. 2018. PMID: 29191403 Free PMC article. Review.
Mutations in LAMA2 cause the most common type of congenital muscular dystrophies, called LAMA2 MD or MDC1A. The disorder manifests mostly as a muscular dystrophy but slowing of nerve conduction contributes to the disease. There are severe …
Mutations in LAMA2 cause the most common type of congenital muscular dystrophies, called LAMA2 MD or MDC1A. The …
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ. Butterfield RJ. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. Continuum (Minneap Minn). 2019. PMID: 31794464 Review.
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. ...This article reviews the clinical and genetic featu …
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting …
Polymerizing laminins in development, health, and disease.
Yurchenco PD, Kulczyk AW. Yurchenco PD, et al. J Biol Chem. 2024 Jul;300(7):107429. doi: 10.1016/j.jbc.2024.107429. Epub 2024 Jun 1. J Biol Chem. 2024. PMID: 38825010 Free PMC article. Review.
The structure, recently solved by cryo-electron microscopy in combination with AlphaFold2 modeling and biochemical studies, reveals how the LN surface residues interact with each other and how mutations cause failures of self-assembly in an emerging group of diseases, the LN-lami …
The structure, recently solved by cryo-electron microscopy in combination with AlphaFold2 modeling and biochemical studies, reveals how the …
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-alpha2 (LAMA2) gene. ...Muscle weakness compromises normal motor development, leading to the inabilit …
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-ass …
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A; Swiss-Reg-NMD Group. Enzmann C, et al. J Neuromuscul Dis. 2024;11(5):1021-1033. doi: 10.3233/JND-240023. J Neuromuscul Dis. 2024. PMID: 39213089 Free PMC article.
BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most common congenital muscular dystrophies. ...CONCLUSION: This study describes the Swiss cohort of patients with LAMA2-RD a …
BACKGROUND: LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most c …
LAMA2-related muscular dystrophy mimicking multiple sclerosis.
Koshorek J, de Macena Sobreira N, Saidha S. Koshorek J, et al. BMJ Case Rep. 2022 Jul 22;15(7):e249061. doi: 10.1136/bcr-2022-249061. BMJ Case Rep. 2022. PMID: 35868801 Free PMC article.
Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epile …
Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein foun …
119 results