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Items: 1 to 20 of 97

1.

Distal myopathies: from clinical classification to molecular understanding.

Kraya T, Zierz S.

J Neural Transm (Vienna). 2013 Sep;120 Suppl 1:S3-7. doi: 10.1007/s00702-013-1058-1. Review.

PMID:
23842731
2.

Distal myopathies.

Mastaglia FL, Lamont PJ, Laing NG.

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

PMID:
16155432
3.

Distal myopathies.

Dimachkie MM, Barohn RJ.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Review.

4.

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.

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.

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

PMID:
16793270
6.

Distal myopathies.

Pénisson-Besnier I.

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

PMID:
24008050
7.

Phenotype of matrin-3-related distal myopathy in 16 German patients.

Müller TJ, Kraya T, Stoltenburg-Didinger G, Hanisch F, Kornhuber M, Stoevesandt D, Senderek J, Weis J, Baum P, Deschauer M, Zierz S.

Ann Neurol. 2014 Nov;76(5):669-80. doi: 10.1002/ana.24255.

PMID:
25154462
8.

Distal myopathies.

Udd B.

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

PMID:
24477389
9.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
10.

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Wallgren-Pettersson C, Lehtokari VL, Kalimo H, Paetau A, Nuutinen E, Hackman P, Sewry C, Pelin K, Udd B.

Brain. 2007 Jun;130(Pt 6):1465-76.

11.

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA.

Ann Hum Genet. 2006 May;70(Pt 3):414-6.

12.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.

Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31.

13.

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.

J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):914-7. doi: 10.1136/jnnp-2013-305587.

PMID:
24027297
14.

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.

Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO.

Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550.

PMID:
26506222
15.

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Ro LS, Lee-Chen GJ, Lin TC, Wu YR, Chen CM, Lin CY, Chen ST.

Arch Neurol. 2004 Oct;61(10):1594-9.

PMID:
15477515
16.

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes.

Suzuki N, Aoki M, Mizuno H, Onodera Y, Takahashi T, Nagata T, Tateyama M, Itoyama Y.

Muscle Nerve. 2005 Dec;32(6):812-4.

PMID:
16116644
17.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE.

Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006.

18.

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. Review.

PMID:
20809097
19.

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. Review.

PMID:
22197426
20.

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012.

PMID:
21724397
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