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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Among authors: huovinen s. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.
Expression of multiple nebulin isoforms in human skeletal muscle and brain.
Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K. Laitila J, et al. Among authors: huovinen s. Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31. Muscle Nerve. 2012. PMID: 22941678
An unusual phenotype of late-onset desminopathy.
Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Among authors: huovinen s. Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. Neuromuscul Disord. 2013. PMID: 23911073 No abstract available.
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: huovinen s. 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
54 results