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Items: 1 to 20 of 96

1.

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
2.

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
3.

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

Piccolo F, Moore SA, Ford GC, Campbell KP.

Ann Neurol. 2000 Dec;48(6):902-12.

PMID:
11117547
4.

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K.

Neurology. 2000 Dec 26;55(12):1931-3.

PMID:
11134403
5.

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.

6.

Dysferlinopathies.

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

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

7.

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
8.

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
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.

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
11.

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.

12.

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
13.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9. Epub 2007 Feb 7.

PMID:
17287450
14.

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Ro LS, Lee-Chen GJ, Lin TC, Wu YR, Chen CM, Lin CY, Chen ST.

Arch Neurol. 2004 Oct;61(10):1594-9.

PMID:
15477515
15.

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Kawai H.

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

PMID:
21301039
16.

[Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy].

Aoki M, Arahata K, Brown RH Jr.

Rinsho Shinkeigaku. 1999 Dec;39(12):1272-5. Japanese.

PMID:
10791095
17.

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
18.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr.

Hum Mol Genet. 2001 Aug 15;10(17):1761-6.

PMID:
11532985
19.

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
20.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.

Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21.

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