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Results: 1 to 20 of 92

1.

Distal myopathies--new genetic entities expand diagnostic challenge.

Udd B.

Neuromuscul Disord. 2012 Jan;22(1):5-12. doi: 10.1016/j.nmd.2011.10.003. Epub 2011 Dec 23. Review.

PMID:
22197426
[PubMed - indexed for MEDLINE]
2.

Distal myopathies.

Udd B.

Curr Neurol Neurosci Rep. 2014 Mar;14(3):434. doi: 10.1007/s11910-013-0434-4. Review.

PMID:
24477389
[PubMed - indexed for MEDLINE]
3.

Distal myopathies.

Pénisson-Besnier I.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):534-45. doi: 10.1016/j.neurol.2012.09.021. Epub 2013 Sep 3. Review.

PMID:
24008050
[PubMed - indexed for MEDLINE]
4.

Genetics and pathogenesis of distal muscular dystrophies.

Udd B.

Adv Exp Med Biol. 2009;652:23-38. doi: 10.1007/978-90-481-2813-6_3. Review.

PMID:
20225017
[PubMed - indexed for MEDLINE]
5.

Distal myopathies.

Mastaglia FL, Lamont PJ, Laing NG.

Curr Opin Neurol. 2005 Oct;18(5):504-10. Review.

PMID:
16155432
[PubMed - indexed for MEDLINE]
6.

Distal myopathies: from clinical classification to molecular understanding.

Kraya T, Zierz S.

J Neural Transm. 2013 Sep;120 Suppl 1:S3-7. doi: 10.1007/s00702-013-1058-1. Epub 2013 Jul 11. Review.

PMID:
23842731
[PubMed - indexed for MEDLINE]
7.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG.

J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. Epub 2005 Aug 15.

PMID:
16103042
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles.

Williams DR, Reardon K, Roberts L, Dennet X, Duff R, Laing NG, Byrne E.

Neurology. 2005 Apr 12;64(7):1245-54.

PMID:
15824355
[PubMed - indexed for MEDLINE]
9.

Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.

Griggs RC, Udd BA.

Neuromolecular Med. 2011 Mar;13(1):27-30. doi: 10.1007/s12017-010-8134-6. Epub 2010 Aug 31. Review.

PMID:
20809097
[PubMed - indexed for MEDLINE]
10.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T.

Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16.

PMID:
20554658
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Distal myopathy in multi-minicore disease.

Mitsuhashi S, Nonaka I, Wu S, Moreno CA, Shalaby S, Hayashi YK, Noguchi S, Nishino I.

Intern Med. 2009;48(19):1759-62. Epub 2009 Oct 1.

PMID:
19797833
[PubMed - indexed for MEDLINE]
Free Article
12.

Early onset distal muscular dystrophy with normal dysferlin expression.

Murakami N, Sakuta R, Takahashi E, Katada Y, Nagai T, Owada M, Nishino I, Nonaka I.

Brain Dev. 2005 Dec;27(8):589-91.

PMID:
16310593
[PubMed - indexed for MEDLINE]
13.

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.

Malicdan MC, Nonaka I.

Neurol India. 2008 Jul-Sep;56(3):314-24. Review.

PMID:
18974558
[PubMed - indexed for MEDLINE]
Free Article
14.

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.

Neuromuscul Disord. 2006 Jul;16(7):427-31. Epub 2006 Jun 21.

PMID:
16793270
[PubMed - indexed for MEDLINE]
15.

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B.

Rev Neurol (Paris). 2008 May;164(5):434-43. doi: 10.1016/j.neurol.2008.02.040. Epub 2008 Apr 15. French.

PMID:
18555875
[PubMed - indexed for MEDLINE]
16.

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

Neurology. 2006 Aug 22;67(4):597-601.

PMID:
16924011
[PubMed - indexed for MEDLINE]
17.

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.

Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.

PMID:
21684747
[PubMed - indexed for MEDLINE]
18.

Distal muscular dystrophies.

Udd B.

Handb Clin Neurol. 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5. Review.

PMID:
21496636
[PubMed - indexed for MEDLINE]
19.

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ.

Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5.

PMID:
20733148
[PubMed - indexed for MEDLINE]
20.

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

Udd B.

Biochim Biophys Acta. 2007 Feb;1772(2):145-58. Epub 2006 Aug 18. Review.

PMID:
17029922
[PubMed - indexed for MEDLINE]
Free Article

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