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Page 1
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Waldrop MA, et al. Among authors: udd b. Hum Mutat. 2022 Apr;43(4):511-528. doi: 10.1002/humu.24343. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35165973 Free PMC article.
Linkage analyses in tibial muscular dystrophy.
Nokelainen P, Udd B, Somer H, Peltonen L. Nokelainen P, et al. Among authors: udd b. Hum Hered. 1996 Mar-Apr;46(2):98-107. doi: 10.1159/000154334. Hum Hered. 1996. PMID: 8666419
Late-onset spinal motor neuronopathy - a common form of dominant SMA.
Penttilä S, Jokela M, Huovinen S, Saukkonen AM, Toivanen J, Lindberg C, Baumann P, Udd B. Penttilä S, et al. Among authors: udd b. Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26. Neuromuscul Disord. 2014. PMID: 24360573
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Among authors: udd b. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
Reply: To PMID 25428574.
Jokela M, Penttilä S, Udd B. Jokela M, et al. Among authors: udd b. Ann Neurol. 2015 Nov;78(5):831-2. doi: 10.1002/ana.24465. Epub 2015 Aug 31. Ann Neurol. 2015. PMID: 26095158 No abstract available.
320 results