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Results: 1 to 20 of 139

1.

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Gallardo E, de Luna N, Diaz-Manera J, Rojas-García R, Gonzalez-Quereda L, Flix B, de Morrée A, van der Maarel S, Illa I.

PLoS One. 2011;6(12):e29061. doi: 10.1371/journal.pone.0029061. Epub 2011 Dec 16.

PMID:
22194990
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.

Meznaric M, Gonzalez-Quereda L, Gallardo E, de Luna N, Gallano P, Fanin M, Angelini C, Peterlin B, Zidar J.

Eur J Neurol. 2011 Jul;18(7):1021-3. doi: 10.1111/j.1468-1331.2010.03240.x. Epub 2010 Oct 18.

PMID:
21658164
[PubMed - indexed for MEDLINE]
3.

Dysferlin expression in monocytes: a source of mRNA for mutation analysis.

De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez JJ, Márquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E.

Neuromuscul Disord. 2007 Jan;17(1):69-76. Epub 2006 Oct 27.

PMID:
17070050
[PubMed - indexed for MEDLINE]
4.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
[PubMed - indexed for MEDLINE]
5.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9. Epub 2007 Feb 7.

PMID:
17287450
[PubMed - indexed for MEDLINE]
6.

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.

Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K.

Muscle Nerve. 2010 Feb;41(2):166-73. doi: 10.1002/mus.21166.

PMID:
20082313
[PubMed - indexed for MEDLINE]
7.

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N.

Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23.

PMID:
19854055
[PubMed - indexed for MEDLINE]
8.

Dysferlin regulates cell adhesion in human monocytes.

de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM.

J Biol Chem. 2013 May 17;288(20):14147-57. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4.

PMID:
23558685
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.

Arch Neurol. 2007 Aug;64(8):1176-82.

PMID:
17698709
[PubMed - indexed for MEDLINE]
10.

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.

J Biol Chem. 2012 Mar 23;287(13):10344-54. doi: 10.1074/jbc.M111.329078. Epub 2012 Feb 8.

PMID:
22318734
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy.

Millay DP, Maillet M, Roche JA, Sargent MA, McNally EM, Bloch RJ, Molkentin JD.

Am J Pathol. 2009 Nov;175(5):1817-23. doi: 10.2353/ajpath.2009.090107. Epub 2009 Oct 15.

PMID:
19834057
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

De Luna N, Díaz-Manera J, Paradas C, Iturriaga C, Rojas-García R, Araque J, Genebriera M, Gich I, Illa I, Gallardo E.

Mol Ther. 2012 Oct;20(10):1988-97. doi: 10.1038/mt.2012.156. Epub 2012 Aug 21.

PMID:
22910291
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

New aspects on patients affected by dysferlin deficient muscular dystrophy.

Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14.

PMID:
19528035
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E.

Int J Biochem Cell Biol. 2013 Aug;45(8):1927-38. doi: 10.1016/j.biocel.2013.06.007. Epub 2013 Jun 19.

PMID:
23792176
[PubMed - indexed for MEDLINE]
15.

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.

Muscle Nerve. 2014 Sep;50(3):333-9. doi: 10.1002/mus.24195. Epub 2014 Jun 16.

PMID:
24488599
[PubMed - indexed for MEDLINE]
16.

Novel diagnostic features of dysferlinopathies.

Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR.

Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650.

PMID:
20544924
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.

Gal A, Siska E, Nagy Z, Karpati G, Molnar MJ.

Clin Neuropathol. 2008 Sep-Oct;27(5):289-94.

PMID:
18808059
[PubMed - indexed for MEDLINE]
18.

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

Bevilacqua JA, Krahn M, Pedraza L, Gejman R, Gonzalez S, Lévy N.

Genet Test Mol Biomarkers. 2009 Feb;13(1):105-8. doi: 10.1089/gtmb.2008.0091.

PMID:
19309282
[PubMed - indexed for MEDLINE]
19.

[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases].

Ren SC, Yan CZ, Li MX, Liu SP, Wu JL, Zhao YY, Li W, Li DN.

Zhonghua Yi Xue Za Zhi. 2007 Jun 5;87(21):1486-90. Chinese.

PMID:
17785089
[PubMed - indexed for MEDLINE]
20.

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.

Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21. Erratum in: Muscle Nerve. 2013 Aug;48(2):310.

PMID:
23519732
[PubMed - indexed for MEDLINE]
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