Udd B - Search Results

1

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: udd b. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.

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

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.

4

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

5

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG. Lamont PJ, et al. Among authors: udd b. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. doi: 10.1136/jnnp.2005.073825. Epub 2005 Aug 15. J Neurol Neurosurg Psychiatry. 2006. PMID: 16103042 Free PMC article.

6

[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.

7

Zaspopathy in a large classic late-onset distal myopathy family.

Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Griggs R, et al. Among authors: udd b. Brain. 2007 Jun;130(Pt 6):1477-84. doi: 10.1093/brain/awm006. Epub 2007 Mar 2. Brain. 2007. PMID: 17337483

8

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Tajsharghi H, et al. Among authors: udd b. Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083. Brain. 2010. PMID: 20418530

9

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B. Sarparanta J, et al. Among authors: udd b. J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15. J Biol Chem. 2010. PMID: 20634290 Free PMC article.

10

Clinical utility gene card for: Laing distal myopathy.

Lamont P, Wallefeld W, Davis M, Udd B, Laing N. Lamont P, et al. Among authors: udd b. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.190. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150886 Free PMC article. No abstract available.

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