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Items: 1 to 20 of 125

1.

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP.

Am J Pathol. 2008 Nov;173(5):1476-87. doi: 10.2353/ajpath.2008.080098. Epub 2008 Oct 2.

2.

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S, Raben N, Plotz P, Hoffman EP.

Am J Pathol. 2008 Mar;172(3):774-85. doi: 10.2353/ajpath.2008.070327. Epub 2008 Feb 14.

3.

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
4.

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.

5.

Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.

Rawat R, Cohen TV, Ampong B, Francia D, Henriques-Pons A, Hoffman EP, Nagaraju K.

Am J Pathol. 2010 Jun;176(6):2891-900. doi: 10.2353/ajpath.2010.090058. Epub 2010 Apr 22.

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.

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.

8.

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
9.

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.

Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.

Neuromuscul Disord. 2007 Feb;17(2):157-62. Epub 2006 Nov 28.

PMID:
17129727
10.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.

Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23.

PMID:
20574037
11.

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.

12.

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
13.

[Amyloidosis in muscular dystrophy].

Carl M, Röcken C, Spuler S.

Pathologe. 2009 May;30(3):235-9. doi: 10.1007/s00292-009-1129-0. German.

PMID:
19326120
14.

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.

15.

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
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.

Dysfunction of dysferlin-deficient hearts.

Wenzel K, Geier C, Qadri F, Hubner N, Schulz H, Erdmann B, Gross V, Bauer D, Dechend R, Dietz R, Osterziel KJ, Spuler S, Ozcelik C.

J Mol Med (Berl). 2007 Nov;85(11):1203-14. Epub 2007 Sep 9.

PMID:
17828519
18.
19.

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.

20.

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

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