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Items: 1 to 20 of 41

1.

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
2.

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.

Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.

3.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.

4.

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

Krahn M, Borges A, Navarro C, Schuit R, Stojkovic T, Torrente Y, Wein N, Pécheux C, Lévy N.

Genet Test Mol Biomarkers. 2009 Aug;13(4):439-42. doi: 10.1089/gtmb.2009.0010.

PMID:
19594366
5.

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P.

Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.

PMID:
19084402
6.

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.

Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M.

Neuromuscul Disord. 2007 Dec;17(11-12):950-4. Epub 2007 Sep 6.

PMID:
17825554
7.

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A, Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi GP.

Hum Mutat. 2005 Sep;26(3):283.

PMID:
16100712
8.

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
9.

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
10.

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK.

J Neuropathol Exp Neurol. 2005 Apr;64(4):334-40.

PMID:
15835269
11.

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.

Cenacchi G, Fanin M, De Giorgi LB, Angelini C.

J Clin Pathol. 2005 Feb;58(2):190-5.

12.

Dysferlin and the plasma membrane repair in muscular dystrophy.

Bansal D, Campbell KP.

Trends Cell Biol. 2004 Apr;14(4):206-13. Review.

PMID:
15066638
13.

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP.

Neuromuscul Disord. 2003 Dec;13(10):788-95.

PMID:
14678801
14.

Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.

Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr.

J Biol Chem. 2003 Dec 12;278(50):50466-73. Epub 2003 Sep 23.

15.

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH Jr, Saito H, Itoyama Y.

Neurology. 2003 Jun 10;60(11):1799-804.

PMID:
12796534
16.

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
17.

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
18.

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.

Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M.

Acta Neuropathol. 2003 Jun;105(6):537-42. Epub 2003 Mar 4.

PMID:
12734659
19.

[Dysferlinopathy. Example of a new myopathy].

Serratrice G, Pellissier JF, N'Guyen V, Attarian S, Pouget J.

Bull Acad Natl Med. 2002;186(6):1025-32; discussion 1033-4. Review. French.

PMID:
12587341
20.

Muscle pathology in dysferlin deficiency.

Fanin M, Angelini C.

Neuropathol Appl Neurobiol. 2002 Dec;28(6):461-70.

PMID:
12445162

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