Udd B - Search Results

1

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Hackman P, et al. Among authors: udd b. Ann Neurol. 2013 Apr;73(4):500-9. doi: 10.1002/ana.23831. Epub 2013 Feb 11. Ann Neurol. 2013. PMID: 23401021

2

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Haravuori H, et al. Among authors: udd b. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

3

Electrophysiological findings in X-linked myopathy with excessive autophagy.

Jääskeläinen SK, Juel VC, Udd B, Villanova M, Liguori R, Minassian BA, Falck B, Niemi P, Kalimo H. Jääskeläinen SK, et al. Among authors: udd b. Ann Neurol. 2002 May;51(5):648-52. doi: 10.1002/ana.10173. Ann Neurol. 2002. PMID: 12112116

4

Welander distal myopathy outside the Swedish population: phenotype and genotype.

von Tell D, Somer H, Udd B, Edström L, Borg K, Ahlberg G. von Tell D, et al. Among authors: udd b. Neuromuscul Disord. 2002 Aug;12(6):544-7. doi: 10.1016/s0960-8966(01)00338-8. Neuromuscul Disord. 2002. PMID: 12117477

5

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.

6

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.

Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforêt P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Vihola A, et al. Among authors: udd b. Neurology. 2003 Jun 10;60(11):1854-7. doi: 10.1212/01.wnl.0000065898.61358.09. Neurology. 2003. PMID: 12796551 Free article.

7

[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.

8

A distinct phenotype of distal myopathy in a large Finnish family.

Mahjneh I, Haravuori H, Paetau A, Anderson LV, Saarinen A, Udd B, Somer H. Mahjneh I, et al. Among authors: udd b. Neurology. 2003 Jul 8;61(1):87-92. doi: 10.1212/01.wnl.0000073618.91577.e8. Neurology. 2003. PMID: 12847162

9

Tibial muscular dystrophy in a Belgian family.

Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Van den Bergh PY, et al. Among authors: udd b. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647. Ann Neurol. 2003. PMID: 12891679

10

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B. Sallinen R, et al. Among authors: udd b. Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002. Neuromuscul Disord. 2004. PMID: 15019706

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