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Items: 1 to 20 of 184

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.

2.

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
3.

Genetic and epigenetic determinants of low dysferlin expression in monocytes.

Gallardo E, Ankala A, Núñez-Álvarez Y, Hegde M, Diaz-Manera J, Luna ND, Pastoret A, Suelves M, Illa I.

Hum Mutat. 2014 Aug;35(8):990-7. doi: 10.1002/humu.22591. Epub 2014 Jun 24.

PMID:
24838345
4.

Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.

Sánchez-Chapul L, Ángel-Muñoz MD, Ruano-Calderón L, Luna-Angulo A, Coral-Vázquez R, Hernández-Hernández Ó, Magaña JJ, León-Hernández SR, Escobar-Cedillo RE, Vargas S.

Muscle Nerve. 2016 Dec;54(6):1064-1071. doi: 10.1002/mus.25156. Epub 2016 Oct 11.

PMID:
27104310
5.

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
6.

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
7.

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
8.

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
9.

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.

10.

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
11.

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
12.

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.

Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.

Exp Neurol. 2016 Sep;283(Pt A):246-54. doi: 10.1016/j.expneurol.2016.06.026. Epub 2016 Jun 25. Review.

PMID:
27349407
13.

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
14.

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
15.

[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
16.

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M.

Folia Neuropathol. 2014;52(4):452-6.

17.

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
18.

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N.

Hum Mutat. 2005 Aug;26(2):165.

PMID:
16010686
19.

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.

Neuromuscul Disord. 2008 Jan;18(1):34-44. Epub 2007 Sep 25.

PMID:
17897828
20.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.

J Mol Neurosci. 2001 Aug;17(1):71-80.

PMID:
11665864

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