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Items: 1 to 20 of 205

1.

Lipid accumulation in dysferlin-deficient muscles.

Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T.

Am J Pathol. 2014 Jun;184(6):1668-76. doi: 10.1016/j.ajpath.2014.02.005. Epub 2014 Mar 29.

PMID:
24685690
2.

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. Retraction in: J Biol Chem. 2017 Jul 28;292(30):12542.

3.

Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells.

Meregalli M, Navarro C, Sitzia C, Farini A, Montani E, Wein N, Razini P, Beley C, Cassinelli L, Parolini D, Belicchi M, Parazzoli D, Garcia L, Torrente Y.

FEBS J. 2013 Dec;280(23):6045-60. doi: 10.1111/febs.12523. Epub 2013 Oct 8.

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
5.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.

Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27.

6.

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.

7.

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
8.

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.

9.

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP.

Acta Neurol Scand. 2009 Aug;120(2):111-8. doi: 10.1111/j.1600-0404.2008.01129.x. Epub 2008 Dec 22.

PMID:
19154541
10.

Dysferlinopathy: a clinical and histopathological study of 28 patients from India.

Nalini A, Gayathri N.

Neurol India. 2008 Jul-Sep;56(3):379-85; discussion 386-7.

11.

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I.

PLoS One. 2012;7(5):e38036. doi: 10.1371/journal.pone.0038036. Epub 2012 May 29.

12.

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.

Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.

Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004. Epub 2014 Aug 1.

PMID:
25176504
13.

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.

14.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88. Epub 2006 Nov 21.

15.

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M.

Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386.

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
17.

Reverse engineering gene network identifies new dysferlin-interacting proteins.

Cacciottolo M, Belcastro V, Laval S, Bushby K, di Bernardo D, Nigro V.

J Biol Chem. 2011 Feb 18;286(7):5404-13. doi: 10.1074/jbc.M110.173559. Epub 2010 Nov 30.

18.

Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B.

Chase TH, Cox GA, Burzenski L, Foreman O, Shultz LD.

Am J Pathol. 2009 Dec;175(6):2299-308. doi: 10.2353/ajpath.2009.080930. Epub 2009 Oct 29.

19.

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.

Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH Jr.

Hum Mol Genet. 2004 Sep 15;13(18):1999-2010. Epub 2004 Jul 14.

PMID:
15254015
20.

Defective membrane repair in dysferlin-deficient muscular dystrophy.

Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.

Nature. 2003 May 8;423(6936):168-72.

PMID:
12736685

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