Udd B - Search Results

1

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

Rouillon J, Poupiot J, Zocevic A, Amor F, Léger T, Garcia C, Camadro JM, Wong B, Pinilla R, Cosette J, Coenen-Stass AM, Mcclorey G, Roberts TC, Wood MJ, Servais L, Udd B, Voit T, Richard I, Svinartchouk F. Rouillon J, et al. Among authors: udd b. Hum Mol Genet. 2015 Sep 1;24(17):4916-32. doi: 10.1093/hmg/ddv214. Epub 2015 Jun 9. Hum Mol Genet. 2015. PMID: 26060189 Free PMC article.

2

Linkage analyses in tibial muscular dystrophy.

Nokelainen P, Udd B, Somer H, Peltonen L. Nokelainen P, et al. Among authors: udd b. Hum Hered. 1996 Mar-Apr;46(2):98-107. doi: 10.1159/000154334. Hum Hered. 1996. PMID: 8666419

3

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

4

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.

5

Touch-down method for high-performance sequencing of polymerase chain reaction products.

Marchand S, Hajdari P, Hackman P, Udd B, Richard I. Marchand S, et al. Among authors: udd b. Anal Biochem. 2003 Apr 15;315(2):270-2. doi: 10.1016/s0003-2697(02)00613-9. Anal Biochem. 2003. PMID: 12689837 No abstract available.

6

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

7

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

8

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.

Bartoli M, Gicquel E, Barrault L, Soheili T, Malissen M, Malissen B, Vincent-Lacaze N, Perez N, Udd B, Danos O, Richard I. Bartoli M, et al. Among authors: udd b. Hum Mol Genet. 2008 May 1;17(9):1214-21. doi: 10.1093/hmg/ddn029. Epub 2008 Feb 5. Hum Mol Genet. 2008. PMID: 18252745

9

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.

Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G. Claeys KG, et al. Among authors: udd b. Neuromuscul Disord. 2008 Aug;18(8):656-66. doi: 10.1016/j.nmd.2008.06.367. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653338

10

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández JM, Hammouda el-H, Richard I, Illa I, Udd B. Hackman P, et al. Among authors: udd b. Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22. Neuromuscul Disord. 2008. PMID: 18948003

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

325 results

Search Page

Filters