Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 119

1.

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. Epub 2009 Apr 2.

2.

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. Epub 2014 Sep 16.

PMID:
25154462
3.

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

Yamashita S, Mori A, Nishida Y, Kurisaki R, Tawara N, Nishikami T, Misumi Y, Ueyama H, Imamura S, Higuchi Y, Hashiguchi A, Higuchi I, Morishita S, Yoshimura J, Uchino M, Takashima H, Tsuji S, Ando Y.

Neuropathol Appl Neurobiol. 2015 Apr;41(3):391-8. doi: 10.1111/nan.12179. No abstract available.

PMID:
25185957
4.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E.

Am J Hum Genet. 1998 Dec;63(6):1732-42.

5.

Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.

Kraya T, Schmidt B, Müller T, Hanisch F.

Muscle Nerve. 2015 Jun;51(6):916-8. doi: 10.1002/mus.24603.

PMID:
25677933
6.

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.

PMID:
17525139
7.

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.

8.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
9.

Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype.

Moloney C, Rayaprolu S, Howard J, Fromholt S, Brown H, Collins M, Cabrera M, Duffy C, Siemienski Z, Miller D, Swanson MS, Notterpek L, Borchelt DR, Lewis J.

Acta Neuropathol Commun. 2016 Nov 18;4(1):122.

10.

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H.

Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19.

PMID:
20171888
11.

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T.

Hum Mol Genet. 1999 Nov;8(12):2191-8.

PMID:
10545598
12.

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.

13.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Fifita JA, Williams KL, McCann EP, O'Brien A, Bauer DC, Nicholson GA, Blair IP.

Neurobiol Aging. 2015 Mar;36(3):1602.e1-2. doi: 10.1016/j.neurobiolaging.2014.11.010. Epub 2014 Nov 20.

PMID:
25523636
14.

Characterization of the Asian myopathy patients with VCP mutations.

Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.

Eur J Neurol. 2012 Mar;19(3):501-9. doi: 10.1111/j.1468-1331.2011.03575.x. Epub 2011 Oct 31.

PMID:
22040362
15.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

PMID:
26493020
16.

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.

Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

PMID:
22521714
17.

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
18.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
19.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.

Am J Hum Genet. 2001 Jun;68(6):1333-43. Epub 2001 Apr 27.

20.

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.

Gallego-Iradi MC, Clare AM, Brown HH, Janus C, Lewis J, Borchelt DR.

PLoS One. 2015 Nov 3;10(11):e0142144. doi: 10.1371/journal.pone.0142144. eCollection 2015.

Supplemental Content

Support Center