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Items: 1 to 20 of 25

1.

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
2.
3.

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
4.

Dysferlin and muscular dystrophy.

Bushby KM.

Acta Neurol Belg. 2000 Sep;100(3):142-5. Review.

PMID:
11098285
5.

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF.

Neurology. 2003 Aug 26;61(4):562-4. Review.

PMID:
12939441
6.

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Bönnemann CG, Finkel RS.

Semin Pediatr Neurol. 2002 Jun;9(2):81-99. Review.

PMID:
12139001
7.

Translational research and therapeutic perspectives in dysferlinopathies.

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.

Mol Med. 2011 Sep-Oct;17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Review.

8.

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Kawai H.

Brain Nerve. 2011 Feb;63(2):147-56. Review. Japanese.

PMID:
21301039
9.

[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
10.

[Limb-girdle muscular dystrophy; update].

Sunada Y.

Rinsho Shinkeigaku. 2004 Nov;44(11):995-7. Review. Japanese.

PMID:
15651352
11.

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma.

Saito A, Higuchi I, Nakagawa M, Saito M, Hirata K, Suehara M, Yoshida Y, Takahashi T, Aoki M, Osame M.

Acta Neuropathol. 2002 Dec;104(6):615-20. Epub 2002 Jul 19. Review.

PMID:
12410383
12.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J.

Am J Med Genet A. 2004 Mar 1;125A(2):152-6. Review.

PMID:
14981715
13.

Dysferlinopathies.

Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N.

Neurol India. 2008 Jul-Sep;56(3):289-97. Review.

14.

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M.

Neuromuscul Disord. 2003 Sep;13(7-8):532-44. Review.

PMID:
12921790
15.

Dysferlinopathies.

Amato AA, Brown RH Jr.

Handb Clin Neurol. 2011;101:111-8. doi: 10.1016/B978-0-08-045031-5.00007-4. Review.

PMID:
21496627
16.
17.

Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.

Patel NJ, Van Dyke KW, Espinoza LR.

Am J Med Sci. 2017 May;353(5):484-491. doi: 10.1016/j.amjms.2016.05.024. Epub 2016 May 30. Review.

PMID:
28502335
18.

Other limb-girdle muscular dystrophies.

Amato AA.

Handb Clin Neurol. 2011;101:119-24. doi: 10.1016/B978-0-08-045031-5.00008-6. Review.

PMID:
21496628
19.

Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle.

Kerr JP, Ward CW, Bloch RJ.

Front Physiol. 2014 Mar 6;5:89. doi: 10.3389/fphys.2014.00089. eCollection 2014. Review.

20.

Progress and challenges in diagnosis of dysferlinopathy.

Fanin M, Angelini C.

Muscle Nerve. 2016 Nov;54(5):821-835. doi: 10.1002/mus.25367. Review.

PMID:
27501525

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