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Results: 1 to 20 of 223

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
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.

Ueyama H, Kumamoto T, Nagao S, Masuda T, Horinouchi H, Fujimoto S, Tsuda T.

Neuromuscul Disord. 2001 Mar;11(2):139-45.

PMID:
11257469
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.

Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo RM, Minauro-Sanmiguel F, Coral-Vázquez R.

Genet Test. 2007 Winter;11(4):391-6. doi: 10.1089/gte.2007.0039.

PMID:
18294055
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.

J Neurol. 2003 Dec;250(12):1431-8.

PMID:
14673575
[PubMed - indexed for MEDLINE]
9.

[Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B)].

Aoki M, Takahashi T.

Rinsho Shinkeigaku. 2005 Nov;45(11):938-42. Review. Japanese.

PMID:
16447768
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K.

Am J Hum Genet. 1996 Oct;59(4):872-8.

PMID:
8808603
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.

Hum Mutat. 2006 Jun;27(6):599-600.

PMID:
16705711
[PubMed - indexed for MEDLINE]
17.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88. Epub 2006 Nov 21.

PMID:
17132147
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
19.

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.

Eur J Neurol. 2004 Oct;11(10):657-61.

PMID:
15469449
[PubMed - indexed for MEDLINE]
20.

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.

McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.

Am J Med Genet. 2000 Apr 10;91(4):305-12.

PMID:
10766988
[PubMed - indexed for MEDLINE]

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