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Items: 1 to 20 of 28

1.

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.

Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH.

Ann Neurol. 2001 Jan;49(1):130-4.

PMID:
11198284
2.

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
3.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
4.

[Distal myopathies].

Pénisson-Besnier I.

Rev Neurol (Paris). 2004 Feb;160(2):211-6. Review. French.

PMID:
15034479
5.

[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
6.

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
7.

Dysferlinopathies.

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

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

8.

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
9.

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.

10.

Dysferlin and muscular dystrophy.

Bushby KM.

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

PMID:
11098285
11.

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
12.

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Kawai H.

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

PMID:
21301039
13.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
14.

[A family of autosomal dominant facio-limb-girdle muscular dystrophy].

Takao S, Kira J, Kohtake N, Yoshimura T, Goto I.

Fukuoka Igaku Zasshi. 1996 Dec;87(12):278-82. Review. Japanese.

PMID:
9011111
15.

Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature.

Flachenecker P, Kiefer R, Naumann M, Handwerker M, Reichmann H.

J Neurol. 1997 Jan;244(1):23-9. Review.

PMID:
9007741
16.

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
17.

Muscle diseases: the muscular dystrophies.

McNally EM, Pytel P.

Annu Rev Pathol. 2007;2:87-109. Review.

PMID:
18039094
18.

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management.

Costanza L, Moggio M.

Curr Pharm Des. 2010;16(8):978-87. Review.

PMID:
20041828
19.

Distal myopathies.

Mastaglia FL, Lamont PJ, Laing NG.

Curr Opin Neurol. 2005 Oct;18(5):504-10. Review.

PMID:
16155432
20.

Muscular dystrophy in dysferlin-deficient mouse models.

Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K.

Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7. Review.

PMID:
23473732

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