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Results: 1 to 20 of 170

1.

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]
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.

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.

Hum Mutat. 2006 Jun;27(6):599-600.

PMID:
16705711
[PubMed - indexed for MEDLINE]
4.

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
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.

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]
7.

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.

J Neurol Sci. 2003 Jul 15;211(1-2):23-8.

PMID:
12767493
[PubMed - indexed for MEDLINE]
8.

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.

Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910.

PMID:
18853459
[PubMed - indexed for MEDLINE]
9.

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]
10.

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
[PubMed - indexed for MEDLINE]
11.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I.

Arch Neurol. 2005 Aug;62(8):1256-9.

PMID:
16087766
[PubMed - indexed for MEDLINE]
12.

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]
13.

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

Pramono ZA, Tan CL, Seah IA, See JS, Kam SY, Lai PS, Yee WC.

Hum Genet. 2009 May;125(4):413-20. doi: 10.1007/s00439-009-0632-y. Epub 2009 Feb 17.

PMID:
19221801
[PubMed - indexed for MEDLINE]
14.

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.

Ueyama H, Kumamoto T, Nagao S, Masuda T, Horinouchi H, Fujimoto S, Tsuda T.

Neuromuscul Disord. 2001 Mar;11(2):139-45.

PMID:
11257469
[PubMed - indexed for MEDLINE]
15.

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.

Krahn M, Labelle V, Borges A, Bartoli M, Lévy N.

Genet Test Mol Biomarkers. 2010 Feb;14(1):153-4. doi: 10.1089/gtmb.2009.0131.

PMID:
19929428
[PubMed - indexed for MEDLINE]
16.

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]
17.

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
18.

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW.

J Korean Med Sci. 2006 Aug;21(4):724-7.

PMID:
16891820
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

de Luna N, Gallardo E, Soriano M, Dominguez-Perles R, de la Torre C, Rojas-García R, García-Verdugo JM, Illa I.

J Biol Chem. 2006 Jun 23;281(25):17092-8. Epub 2006 Apr 11.

PMID:
16608842
[PubMed - indexed for MEDLINE]
Free Article
20.

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K.

Hum Mol Genet. 1999 May;8(5):871-7.

PMID:
10196377
[PubMed - indexed for MEDLINE]
Free Article

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