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Items: 1 to 20 of 109

1.

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C.

Neurology. 2000 Mar 28;54(6):1373-6.

PMID:
10746614
2.

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
3.

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F.

Nat Genet. 1998 Apr;18(4):365-8.

PMID:
9537420
4.

Two novel CAV3 gene mutations in Japanese families.

Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2004 Dec;14(12):810-4.

PMID:
15564037
5.

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

Sotgia F, Woodman SE, Bonuccelli G, Capozza F, Minetti C, Scherer PE, Lisanti MP.

Am J Physiol Cell Physiol. 2003 Nov;285(5):C1150-60. Epub 2003 Jul 2.

6.

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kröger S, Voit T.

Hum Mol Genet. 2000 Sep 22;9(15):2335-40.

7.

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.

8.

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C.

Nat Genet. 2001 Jul;28(3):218-9.

PMID:
11431690
9.

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y.

Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [corrected to Itoyama Y].

PMID:
11805270
10.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C.

Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4.

12.

Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.

Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP.

Neurology. 2004 Feb 24;62(4):538-43. Review.

PMID:
14981167
13.

A CAV3 microdeletion differentially affects skeletal muscle and myocardium.

Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP.

Neurology. 2003 Dec 9;61(11):1513-9.

PMID:
14663034
14.

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM.

Muscle Nerve. 2004 Sep;30(3):375-8.

PMID:
15318349
15.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.

Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

PMID:
16730439
16.

Caveolae and caveolin-3 in muscular dystrophy.

Galbiati F, Razani B, Lisanti MP.

Trends Mol Med. 2001 Oct;7(10):435-41. Review.

PMID:
11597517
17.

Consequences of a novel caveolin-3 mutation in a large German family.

Fischer D, Schroers A, Blümcke I, Urbach H, Zerres K, Mortier W, Vorgerd M, Schröder R.

Ann Neurol. 2003 Feb;53(2):233-41.

PMID:
12557291
18.
19.

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.

Capanni C, Sabatelli P, Mattioli E, Ognibene A, Columbaro M, Lattanzi G, Merlini L, Minetti C, Maraldi NM, Squarzoni S.

Exp Mol Med. 2003 Dec 31;35(6):538-44.

20.

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
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