Udd B - Search Results

1

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N. Sellier C, et al. Among authors: udd b. Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x. Nat Commun. 2018. PMID: 29789616 Free PMC article.

2

Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands.

Moxley RT 3rd, Meola G, Udd B, Ricker K. Moxley RT 3rd, et al. Among authors: udd b. Neuromuscul Disord. 2002 Mar;12(3):306-17. doi: 10.1016/s0960-8966(01)00284-x. Neuromuscul Disord. 2002. PMID: 11801405 No abstract available.

3

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.

4

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K. Udd B, et al. Neuromuscul Disord. 2003 Sep;13(7-8):589-96. doi: 10.1016/s0960-8966(03)00092-0. Neuromuscul Disord. 2003. PMID: 12921797 No abstract available.

5

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Bachinski LL, et al. Among authors: udd b. Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10. Am J Hum Genet. 2003. PMID: 12970845 Free PMC article.

6

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

7

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.

Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R. Udd B, et al. Neuromuscul Disord. 2006 Jun;16(6):403-13. doi: 10.1016/j.nmd.2006.03.010. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684600 No abstract available.

8

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B. Suominen T, et al. Among authors: udd b. J Neurol. 2008 Nov;255(11):1731-6. doi: 10.1007/s00415-008-0010-z. Epub 2008 Sep 24. J Neurol. 2008. PMID: 18807109 Free PMC article.

9

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B. Vihola A, et al. Among authors: udd b. Acta Neuropathol. 2010 Apr;119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12. Acta Neuropathol. 2010. PMID: 20066428 Free PMC article.

10

Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands.

Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B, Moxley R. Udd B, et al. Neuromuscul Disord. 2011 Jun;21(6):443-50. doi: 10.1016/j.nmd.2011.03.013. Epub 2011 May 4. Neuromuscul Disord. 2011. PMID: 21543227 No abstract available.

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