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Items: 1 to 20 of 101

1.

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

Nalini A, Gayathri N, Richard P, Cobo AM, Urtizberea JA.

Neurol India. 2013 Nov-Dec;61(6):622-6. doi: 10.4103/0028-3886.125269.

2.

A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.

Cao L, Hong D, Zhu M, Li X, Wan H, Hong K.

Clin Neuropathol. 2013 Jan-Feb;32(1):9-15. doi: 10.5414/NP300514.

PMID:
23036309
3.

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG.

J Neurol. 2004 Feb;251(2):143-9.

PMID:
14991347
4.

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC.

Nat Genet. 1998 Aug;19(4):402-3.

PMID:
9697706
5.

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.

6.

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC.

Neuromuscul Disord. 2008 Feb;18(2):178-82. Epub 2007 Dec 3.

PMID:
18061454
7.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
8.

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Hong D, Wang Z, Zhang W, Xi J, Lu J, Luan X, Yuan Y.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):257-70. doi: 10.1111/j.1365-2990.2010.01112.x.

PMID:
20696008
9.

Autophagic vacuolar pathology in desminopathies.

Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Mar;25(3):199-206. doi: 10.1016/j.nmd.2014.12.002. Epub 2014 Dec 12.

10.

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P.

J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18.

PMID:
23687351
11.

Structural and functional analysis of a new desmin variant causing desmin-related myopathy.

Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.

Hum Mutat. 2001 Nov;18(5):388-96.

PMID:
11668632
12.

Autopsy case of desminopathy involving skeletal and cardiac muscle.

Yuri T, Miki K, Tsukamoto R, Shinde A, Kusaka H, Tsubura A.

Pathol Int. 2007 Jan;57(1):32-6. Erratum in: Pathol Int. 2007 May;57(5):302.

PMID:
17199740
13.

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.

14.

[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].

Hong DJ, Zhang W, Jiang TY, Feng L, Wang ZX, Yuan Y.

Zhonghua Xin Xue Guan Bing Za Zhi. 2010 May;38(5):420-4. Chinese.

PMID:
20654101
15.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J.

BMC Med Genet. 2013 Jul 2;14:68. doi: 10.1186/1471-2350-14-68.

16.

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG.

Clin Genet. 2000 Jun;57(6):423-9.

PMID:
10905661
17.

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.

Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

PMID:
17720647
18.

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG.

Neuromuscul Disord. 2009 Jun;19(6):418-22. doi: 10.1016/j.nmd.2009.04.004. Epub 2009 May 9.

20.

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG.

Hum Genet. 2004 Feb;114(3):306-13. Epub 2003 Nov 27.

PMID:
14648196
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