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.
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.
Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment.
Veyckemans F.
Anesthesiology. 2021 May 1;134(5):813. doi: 10.1097/ALN.0000000000003698.
Congenital muscular dystrophies.
Kirschner J.
Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3.
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.
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.
Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice.
Yokomizo-Goto M, Takenaka-Ninagawa N, Zhao C, Bourgeois Yoshioka CK, Miki M, Motoike S, Inada Y, Zujur D, Theoputra W, Jin Y, Toguchida J, Ikeya M, Sakurai H.
Stem Cell Res Ther. 2024 Oct 7;15(1):340. doi: 10.1186/s13287-024-03951-6.
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.
COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy.
Brands J, Steffen F, Spennes J, Leeb T, Bilzer T.
Muscle Nerve. 2021 Apr;63(4):608-616. doi: 10.1002/mus.27162. Epub 2021 Jan 13.
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.
