Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A, Zampatti S, Resta N, Giardina E, Ruggieri M, Virgintino D, Annese T, Laforgia N, Girolamo F.
Eur J Transl Myol. 2023 Jul 28;33(3):11501. doi: 10.4081/ejtm.2023.11501.
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.
Tran VK, Nguyen NL, Tran LNT, Le PT, Tran AH, Pham TLA, Lien NTK, Xuan NT, Thanh LT, Ta TV, Tran TH, Nguyen HH.
Front Genet. 2023 Jun 14;14:1183663. doi: 10.3389/fgene.2023.1183663. eCollection 2023.
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ.
Hum Mol Genet. 2022 Mar 3;31(5):733-747. doi: 10.1093/hmg/ddab278.
Myelin abnormalities in merosin-deficient congenital muscular dystrophy.
Saito Y, Ishiyama A, Saito Y, Komaki H, Sasaki M.
Muscle Nerve. 2024 Jan;69(1):55-63. doi: 10.1002/mus.28002. Epub 2023 Nov 7.
Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse.
Matsumura K, Yamada H, Saito F, Sunada Y, Shimizu T.
Neuromuscul Disord. 1997 Jan;7(1):7-12. doi: 10.1016/s0960-8966(96)00402-6.
CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy.
Arockiaraj AI, Johnson MA, Munir A, Ekambaram P, Lucas PC, McAllister-Lucas LM, Kemaladewi DU.
bioRxiv [Preprint]. 2023 Mar 7:2023.03.06.531347. doi: 10.1101/2023.03.06.531347.
Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.
Fadiloglu E, Ozten G, Unal C, Talim B, Topaloglu H, Beksac MS.
Fetal Pediatr Pathol. 2018 Dec;37(6):418-423. doi: 10.1080/15513815.2018.1520944. Epub 2018 Oct 25.
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.
Chausova PA, Ryzhkova OP, Rudenskaya GE, Chernykh VB, Shchagina OA, Polyakov AV.
Front Genet. 2021 Oct 29;12:686800. doi: 10.3389/fgene.2021.686800. eCollection 2021.
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.
Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V.
J Child Neurol. 1995 Nov;10(6):472-5. doi: 10.1177/088307389501000610.
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands.
Smeets HJM, Verbrugge B, Springuel P, Voermans NC; MDC1A Workshop Group.
Neuromuscul Disord. 2021 Jul;31(7):673-680. doi: 10.1016/j.nmd.2021.04.003. Epub 2021 May 1.
