Udd B - Search Results

1

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

Sarparanta J, Jonson PH, Reimann J, Vihola A, Luque H, Penttilä S, Johari M, Savarese M, Hackman P, Kornblum C, Udd B. Sarparanta J, et al. Among authors: udd b. Hum Mol Genet. 2023 Oct 17;32(21):3029-3039. doi: 10.1093/hmg/ddad058. Hum Mol Genet. 2023. PMID: 37070754 Free PMC article.

2

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Hackman P, et al. Among authors: udd b. Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145747 Free PMC article.

3

[A new type of myotonic dystrophy].

Auvinen S, Vihola A, Krahe R, Kupila J, Hackman P, Hietaharju A, Udd B. Auvinen S, et al. Among authors: udd b. Duodecim. 2003;119(8):707-13. Duodecim. 2003. PMID: 12806729 Review. Finnish. No abstract available.

4

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestilä M, Udd B. Haravuori H, et al. Among authors: udd b. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

5

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Udd B, et al. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Neurology. 2005. PMID: 15728284

6

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B. Hackman P, et al. Among authors: udd b. Muscle Nerve. 2005 Feb;31(2):199-204. doi: 10.1002/mus.20267. Muscle Nerve. 2005. PMID: 15736300

7

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: udd b. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.

8

[The kinase domain of titin controls muscle gene expression and protein turnover].

Hackman P, Vihola A, Udd B. Hackman P, et al. Among authors: udd b. Duodecim. 2005;121(12):1279-80. Duodecim. 2005. PMID: 16134506 Finnish. No abstract available.

9

Myotilinopathy in a family with late onset myopathy.

Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B. Pénisson-Besnier I, et al. Among authors: udd b. Neuromuscul Disord. 2006 Jul;16(7):427-31. doi: 10.1016/j.nmd.2006.04.009. Epub 2006 Jun 21. Neuromuscul Disord. 2006. PMID: 16793270

10

Hartia-lantiodystrofioiden molekyyligenetiikka Suomessa.

Raheem O, Suominen T, Hackman P, Vihola A, Auranen M, Kalimo H, Mahjneh I, Kärppä M, Haapasalo H, Udd B. Raheem O, et al. Among authors: udd b. Duodecim. 2006;122(17):2130-6. Duodecim. 2006. PMID: 17115630 Finnish. No abstract available.

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