Udd B - Search Results

1

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B. Tasca G, et al. Among authors: udd b. Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20. Neuromuscul Disord. 2012. PMID: 22521714

2

Imaging methods reveal unexpected patchy lesions in late onset distal myopathy.

Udd B, Lamminen A, Somer H. Udd B, et al. Neuromuscul Disord. 1991;1(4):279-85. doi: 10.1016/0960-8966(91)90102-x. Neuromuscul Disord. 1991. PMID: 1822807

3

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

4

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestilä M, Udd B. Haravuori H, et al. Among authors: udd b. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

5

Myotilinopathy in a family with late onset myopathy.

Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B. Pénisson-Besnier I, et al. Among authors: udd b. Neuromuscul Disord. 2006 Jul;16(7):427-31. doi: 10.1016/j.nmd.2006.04.009. Epub 2006 Jun 21. Neuromuscul Disord. 2006. PMID: 16793270

6

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

7

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B. Pollazzon M, et al. Among authors: udd b. J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13. J Neurol. 2010. PMID: 19911250

8

Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

Huttner HB, Richter G, Jünemann A, Kress W, Weis J, Schröder JM, Gal A, Doerfler A, Udd B, Schröder R. Huttner HB, et al. Among authors: udd b. Neuromuscul Disord. 2010 Feb;20(2):139-41. doi: 10.1016/j.nmd.2009.12.006. Epub 2010 Jan 12. Neuromuscul Disord. 2010. PMID: 20064724

9

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E. Tasca G, et al. Among authors: udd b. Neuromuscul Disord. 2010 Nov;20(11):730-4. doi: 10.1016/j.nmd.2010.07.269. Epub 2010 Aug 13. Neuromuscul Disord. 2010. PMID: 20708934

10

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B. Dubourg O, et al. Among authors: udd b. J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30. J Neurol. 2011. PMID: 21279644

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