Udd B - Search Results

1

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. Among authors: udd b. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.

2

Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients.

Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V, et al. Udd B, et al. Arch Neurol. 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015. Arch Neurol. 1993. PMID: 8503797

3

The first European family with tibial muscular dystrophy outside the Finnish population.

de Seze J, Udd B, Haravuori H, Sablonnière B, Maurage CA, Hurtevent JF, Boutry N, Stojkovic T, Schraen S, Petit H, Vermersch P. de Seze J, et al. Among authors: udd b. Neurology. 1998 Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746. Neurology. 1998. PMID: 9855539

4

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

5

Distal myopathies.

Udd B, Griggs R. Udd B, et al. Curr Opin Neurol. 2001 Oct;14(5):561-6. doi: 10.1097/00019052-200110000-00003. Curr Opin Neurol. 2001. PMID: 11562566 Review.

6

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

7

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.

8

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.

9

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

10

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

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