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Results: 1 to 20 of 32

1.

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A.

J Biol Chem. 2014 May 9;289(19):13615-26. doi: 10.1074/jbc.M114.550418. Epub 2014 Mar 25.

PMID:
24668811
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
23815709
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

PMID:
23639843
[PubMed - indexed for MEDLINE]
5.

Diagnostic impact of myotonic discharges in myofibrillar myopathies.

Hanisch F, Kraya T, Kornhuber M, Zierz S.

Muscle Nerve. 2013 Jun;47(6):845-8. doi: 10.1002/mus.23716. Epub 2013 Apr 21.

PMID:
23605961
[PubMed - indexed for MEDLINE]
6.

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

Tanisawa K, Mikami E, Fuku N, Honda Y, Honda S, Ohsawa I, Ito M, Endo S, Ihara K, Ohno K, Kishimoto Y, Ishigami A, Maruyama N, Sawabe M, Iseki H, Okazaki Y, Hasegawa-Ishii S, Takei S, Shimada A, Hosokawa M, Mori M, Higuchi K, Takeda T, Higuchi M, Tanaka M.

BMC Genomics. 2013 Apr 15;14:248. doi: 10.1186/1471-2164-14-248.

PMID:
23586671
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.

BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29.

PMID:
23514108
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13.

PMID:
23486992
[PubMed - indexed for MEDLINE]
9.

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y.

J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28.

PMID:
23446887
[PubMed - indexed for MEDLINE]
10.

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M.

Autophagy. 2013 Mar;9(3):422-3. doi: 10.4161/auto.22921. Epub 2012 Dec 13.

PMID:
23238331
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Cyclic stretch reveals a mechanical role for intermediate filaments in a desminopathic cell model.

Leccia E, Batonnet-Pichon S, Tarze A, Bailleux V, Doucet J, Pelloux M, Delort F, Pizon V, Vicart P, Briki F.

Phys Biol. 2013 Feb;10(1):016001. doi: 10.1088/1478-3975/10/1/016001. Epub 2012 Dec 12.

PMID:
23234811
[PubMed - indexed for MEDLINE]
12.

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.

Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Müller K, Meyer HE, Tegenthoff M, Fürst DO, Vorgerd M, Müller T, Marcus K.

Mol Cell Proteomics. 2013 Jan;12(1):215-27. doi: 10.1074/mcp.M112.023176. Epub 2012 Oct 31.

PMID:
23115302
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF.

Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30.

PMID:
23109048
[PubMed - indexed for MEDLINE]
14.

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012.

PMID:
22980763
[PubMed - indexed for MEDLINE]
15.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.

Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200.

PMID:
22961544
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG.

Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349.

PMID:
22806379
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Camptocormia as presenting sign in myofibrillar myopathy.

Renard D, Castelnovo G, Fernandez C, De Paula AM, Penttilä S, Suominen T, Udd B.

Neuromuscul Disord. 2012 Nov;22(11):987-9. doi: 10.1016/j.nmd.2012.06.004. Epub 2012 Jun 28.

PMID:
22749474
[PubMed - indexed for MEDLINE]
18.

BAG3 mutations: another cause of giant axonal neuropathy.

Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.

PMID:
22734908
[PubMed - indexed for MEDLINE]
19.

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy.

Ruparelia AA, Zhao M, Currie PD, Bryson-Richardson RJ.

Hum Mol Genet. 2012 Sep 15;21(18):4073-83. doi: 10.1093/hmg/dds231. Epub 2012 Jun 16.

PMID:
22706277
[PubMed - indexed for MEDLINE]
Free Article
20.

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N.

Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4.

PMID:
22560515
[PubMed - indexed for MEDLINE]
Free PMC Article

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