220 related articles for article (PubMed ID: 12666119)
1. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C; Schoser BG; von Düring M; Betz RC; Goebel HH; Zahn S; Ehrbrecht A; Aasly J; Schroers A; Popovic N; Lochmüller H; Schröder JM; Brüning T; Malin JP; Fricke B; Meinck HM; Torbergsen T; Engels H; Voss B; Vorgerd M
Ann Neurol; 2003 Apr; 53(4):512-20. PubMed ID: 12666119
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11431690
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15318349
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15564037
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 14673575
[TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
Lorenzoni PJ; Scola RH; Vieira N; Vainzof M; Carsten AL; Werneck LC
Muscle Nerve; 2007 Aug; 36(2):258-60. PubMed ID: 17405141
[TBL] [Abstract][Full Text] [Related]
7. Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
Madrid RE; Kubisch C; Hays AP
Neurology; 2005 Oct; 65(8):1301-3. PubMed ID: 16247063
[TBL] [Abstract][Full Text] [Related]
8. A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes.
Smythe GM; Eby JC; Disatnik MH; Rando TA
J Cell Sci; 2003 Dec; 116(Pt 23):4739-49. PubMed ID: 14600260
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 12557291
[TBL] [Abstract][Full Text] [Related]
10. A new missense mutation in caveolin-3 gene causes rippling muscle disease.
Dotti MT; Malandrini A; Gambelli S; Salvadori C; De Stefano N; Federico A
J Neurol Sci; 2006 Apr; 243(1-2):61-4. PubMed ID: 16458928
[TBL] [Abstract][Full Text] [Related]
11. 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; 61(11):1513-9. PubMed ID: 14663034
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Kubisch C; Ketelsen UP; Goebel I; Omran H
Ann Neurol; 2005 Feb; 57(2):303-4. PubMed ID: 15668980
[No Abstract] [Full Text] [Related]
13. Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C; Ruscheweyh R; Vorgerd M; Weber MA; Storch-Hagenlocher B; Meinck HM
Muscle Nerve; 2010 Jan; 41(1):128-32. PubMed ID: 19697367
[TBL] [Abstract][Full Text] [Related]
14. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers.
Lamb GD
Muscle Nerve; 2005 May; 31(5):652-8. PubMed ID: 15742369
[TBL] [Abstract][Full Text] [Related]
15. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Vorgerd M; Ricker K; Ziemssen F; Kress W; Goebel HH; Nix WA; Kubisch C; Schoser BG; Mortier W
Neurology; 2001 Dec; 57(12):2273-7. PubMed ID: 11756609
[TBL] [Abstract][Full Text] [Related]
16. Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
Schoser B; Jacob S; Hilton-Jones D; Müller-Felber W; Kubisch C; Claus D; Goebel HH; Vita G; Vincent A; Toscano A; Van den Bergh P
Neuromuscul Disord; 2009 Mar; 19(3):223-8. PubMed ID: 19208478
[TBL] [Abstract][Full Text] [Related]
17. Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M; Sanna T; Santorelli FM; Tessa A; Di Giacopo R; Sauchelli D; Verbo A; Lo Monaco M; Servidei S
Neuromuscul Disord; 2009 Nov; 19(11):779-83. PubMed ID: 19773168
[TBL] [Abstract][Full Text] [Related]
18. 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; 68(16):1284-9. PubMed ID: 17287450
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16730439
[TBL] [Abstract][Full Text] [Related]
20. Thought ripples on muscle waves: recognition of rippling muscle disease.
Voermans NC; van Alfen N; Drost G; Ginjaar HB; Willemsen MA
Neuropediatrics; 2008 Apr; 39(2):116-8. PubMed ID: 18671188
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]