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名词信息
中 文 名:
分层蛋白缺乏型先天性肌营养不良
英 文 名:
merosin deficient congenital muscular dystrophy merosin
中文又称:
merosin缺乏症
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
merosin deficient congenital muscular dystrophy merosin
相关文献:
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
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
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
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
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
Congenital muscular dystrophy type 1A with residual merosin expression.
Kim HJ, Choi YC, Park HJ, Lee YM, Kim HD, Lee JS, Kang HC.
Korean J Pediatr. 2014 Mar;57(3):149-52. doi: 10.3345/kjp.2014.57.3.149. Epub 2014 Mar 31.
PMID:24778697
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
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.
PMID:36945402
Merosin/laminin-2 and muscular dystrophy.
Wewer UM, Engvall E.
Neuromuscul Disord. 1996 Dec;6(6):409-18. doi: 10.1016/s0960-8966(96)00384-7.
PMID:9027848
Merosin-deficient congenital muscular dystrophy type 1A: A case report.
He Z, Luo X, Liang L, Li P, Li D, Zhe M.
Exp Ther Med. 2013 Nov;6(5):1233-1236. doi: 10.3892/etm.2013.1271. Epub 2013 Aug 23.
PMID:24223650
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