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Ullrich congenital muscular dystrophy 相关文献:
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Yonekawa T, Nishino I.
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-7. doi: 10.1136/jnnp-2013-307052. Epub 2014 Jun 17.
PMID:24938411
Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.
Veyckemans F.
Anesthesiology. 2021 May 1;134(5):813. doi: 10.1097/ALN.0000000000003698.
PMID:33529318
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C.
Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095.
PMID:36982167
Congenital muscular dystrophies.
Kirschner J.
Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3.
PMID:23622361
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.
Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.
PMID:28688748
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.
Park Y, Park MS, Sung DH, Sohn JY, Ki CS, Kim DH.
Ann Rehabil Med. 2014 Apr;38(2):292-6. doi: 10.5535/arm.2014.38.2.292. Epub 2014 Apr 29.
PMID:24855628
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
Bönnemann CG.
Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0.
PMID:21496625
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
Aguti S, Guirguis F, Bönnemann C, Muntoni F, Bolduc V, Zhou H.
Methods Mol Biol. 2023;2587:387-407. doi: 10.1007/978-1-0716-2772-3_20.
PMID:36401040
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Cenni V, Sabatelli P, Di Martino A, Merlini L, Antoniel M, Squarzoni S, Neri S, Santi S, Metti S, Bonaldo P, Faldini C.
Cells. 2024 Feb 22;13(5):378. doi: 10.3390/cells13050378.
PMID:38474342
Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.
Chakrabarty B, Sharma MC, Gulati S, Sarkar C.
J Child Neurol. 2017 Dec;32(14):1099-1103. doi: 10.1177/0883073817738466.
PMID:29129153
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