Udd B - Search Results

1

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Mercier S, Magot A, Caillon F, Isidor B, David A, Ferrer X, Vital A, Coquet M, Penttilä S, Udd B, Mussini JM, Pereon Y. Mercier S, et al. Among authors: udd b. Muscle Nerve. 2015 Oct;52(4):673-80. doi: 10.1002/mus.24664. Epub 2015 Jun 3. Muscle Nerve. 2015. PMID: 25809233

2

Muscular dystrophy with separate clinical phenotypes in a large family.

Udd B, Kääriänen H, Somer H. Udd B, et al. Muscle Nerve. 1991 Nov;14(11):1050-8. doi: 10.1002/mus.880141103. Muscle Nerve. 1991. PMID: 1745277

3

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

4

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

5

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Duff RM, et al. Among authors: udd b. Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620354 Free PMC article.

6

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

7

Late-onset lower motor neuronopathy: a new autosomal dominant disorder.

Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B. Jokela M, et al. Among authors: udd b. Neurology. 2011 Jul 26;77(4):334-40. doi: 10.1212/WNL.0b013e3182267b71. Epub 2011 Jun 29. Neurology. 2011. PMID: 21715705

8

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B. Sarparanta J, et al. Among authors: udd b. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103. Nat Genet. 2012. PMID: 22366786 Free PMC article.

9

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Penttilä S, et al. Among authors: udd b. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Neurology. 2012. PMID: 22402862

10

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

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