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Items: 19


Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.

Deev RV, Bardakov SN, Mavlikeev MO, Yakovlev IA, Umakhanova ZR, Akhmedova PG, Magomedova RM, Chekmaryeva IA, Dalgatov GD, Isaev AA.

Front Neurol. 2017 Jul 31;8:367. doi: 10.3389/fneur.2017.00367. eCollection 2017.


Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature.

Miyagi R, Nishisho T, Takata S, Shimatani Y, Toki S, Sairyo K.

Case Rep Orthop. 2017;2017:3025084. doi: 10.1155/2017/3025084. Epub 2017 May 29.


Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.

PLoS One. 2017 Jan 19;12(1):e0170280. doi: 10.1371/journal.pone.0170280. eCollection 2017.


Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.

BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z.


Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers.

Staszewska I, Fischer I, Wiche G.

Hum Mol Genet. 2015 Dec 20;24(25):7373-89. doi: 10.1093/hmg/ddv438. Epub 2015 Oct 20.


Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.

Winter L, Kuznetsov AV, Grimm M, Zeöld A, Fischer I, Wiche G.

Hum Mol Genet. 2015 Aug 15;24(16):4530-44. doi: 10.1093/hmg/ddv184. Epub 2015 May 27.


Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

Mihailovska E, Raith M, Valencia RG, Fischer I, Al Banchaabouchi M, Herbst R, Wiche G.

Mol Biol Cell. 2014 Dec 15;25(25):4130-49. doi: 10.1091/mbc.E14-06-1174. Epub 2014 Oct 15.


Genetic basis of limb-girdle muscular dystrophies: the 2014 update.

Nigro V, Savarese M.

Acta Myol. 2014 May;33(1):1-12. Review.


Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).

Mahmood OA, Jiang XM.

Mol Med Rep. 2014 May;9(5):1515-32. doi: 10.3892/mmr.2014.2048. Epub 2014 Mar 13. Review.


Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.

Lace B, Inashkina I, Micule I, Vasiljeva I, Naudina MS, Strautmanis J, Stavusis J, Jankevics E.

Case Rep Neurol Med. 2013;2013:254950. doi: 10.1155/2013/254950. Epub 2013 Aug 19.


Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers.

Raith M, Valencia RG, Fischer I, Orthofer M, Penninger JM, Spuler S, Rezniczek GA, Wiche G.

Skelet Muscle. 2013 Jun 12;3(1):14. doi: 10.1186/2044-5040-3-14.


Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.

Castañón MJ, Walko G, Winter L, Wiche G.

Histochem Cell Biol. 2013 Jul;140(1):33-53. doi: 10.1007/s00418-013-1102-0. Epub 2013 Jun 9. Review.


The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.

Rahimov F, Kunkel LM.

J Cell Biol. 2013 May 13;201(4):499-510. doi: 10.1083/jcb.201212142. Review.


An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28.


Pitfall of identifying a disease locus by using low-resolution SNP arrays.

Gundesli H, Cirak S, Dincer P.

J Mol Genet Med. 2010;5:264-5. Epub 2011 Nov 22. No abstract available.


Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.

Walko G, Vukasinovic N, Gross K, Fischer I, Sibitz S, Fuchs P, Reipert S, Jungwirth U, Berger W, Salzer U, Carugo O, Castañón MJ, Wiche G.

PLoS Genet. 2011 Dec;7(12):e1002396. doi: 10.1371/journal.pgen.1002396. Epub 2011 Dec 1.


Current status of the congenital myasthenic syndromes.

Engel AG.

Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21. Review.


Genomic medicine and neurological disease.

Boone PM, Wiszniewski W, Lupski JR.

Hum Genet. 2011 Jul;130(1):103-21. doi: 10.1007/s00439-011-1001-1. Epub 2011 May 19. Review.

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