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merosin deficient congenital muscular dystrophy merosin相关文献:
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.
PMID:37388928
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.
PMID:37522802
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.
PMID:37933889
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.
PMID:9132144
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.
PMID:34568901
Merosin-deficient congenital muscular dystrophy type 1A.
Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.
Rom J Morphol Embryol. 2008;49(2):229-33.
PMID:18516331
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.
PMID:30358464
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.
PMID:8576559
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.
Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Muntoni F.
Pediatr Neurol. 1998 May;18(5):399-401. doi: 10.1016/s0887-8994(97)00222-1.
PMID:9650678
Laminin-11.
Miner JH, Patton BL.
Int J Biochem Cell Biol. 1999 Aug;31(8):811-6. doi: 10.1016/s1357-2725(99)00030-8.
PMID:10481268
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