Udd B - Search Results

1

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Savarese M, et al. Among authors: udd b. Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9. Neuromuscul Disord. 2018. PMID: 29880332 Free article.

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

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

4

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

5

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

6

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

7

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.

Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B. Suominen T, et al. Among authors: udd b. Eur J Hum Genet. 2011 Jul;19(7):776-82. doi: 10.1038/ejhg.2011.23. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364698 Free PMC article.

8

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B. Hackman P, et al. Among authors: udd b. Neuromuscul Disord. 2011 May;21(5):338-44. doi: 10.1016/j.nmd.2011.02.008. Epub 2011 Mar 3. Neuromuscul Disord. 2011. PMID: 21376592

9

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Among authors: udd b. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. Neuromuscul Disord. 2011. PMID: 21684747

10

An unusual phenotype of late-onset desminopathy.

Palmio J, Penttilä S, Huovinen S, Haapasalo H, Udd B. Palmio J, et al. Among authors: udd b. Neuromuscul Disord. 2013 Nov;23(11):922-3. doi: 10.1016/j.nmd.2013.06.374. Epub 2013 Jul 30. Neuromuscul Disord. 2013. PMID: 23911073 No abstract available.

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