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Items: 1 to 20 of 53

1.

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C.

Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692.

2.

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C.

Neurology. 2009 Apr 21;72(16):1432-5. doi: 10.1212/WNL.0b013e3181a1885e.

PMID:
19380703
3.

Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

González-Pérez P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J.

J Neurol Sci. 2009 Jan 15;276(1-2):95-8. doi: 10.1016/j.jns.2008.09.009. Epub 2008 Oct 19.

PMID:
18930476
4.

Caveolinopathy--new mutations and additional symptoms.

Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V.

Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.

PMID:
18583131
5.

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.

Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C.

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi: 10.1136/jnnp.2007.133207. No abstract available.

PMID:
18487559
6.

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, Ackerman MJ.

Heart Rhythm. 2007 Feb;4(2):161-6. Epub 2006 Dec 6.

7.

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.

Circulation. 2006 Nov 14;114(20):2104-12. Epub 2006 Oct 23.

8.

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
9.

Familial idiopathic hyper-CK-emia: an underrecognized condition.

Capasso M, De Angelis MV, Di Muzio A, Scarciolla O, Pace M, Stuppia L, Comi GP, Uncini A.

Muscle Nerve. 2006 Jun;33(6):760-5.

PMID:
16502425
10.

Spatial and temporal regulation of GLUT4 translocation by flotillin-1 and caveolin-3 in skeletal muscle cells.

Fecchi K, Volonte D, Hezel MP, Schmeck K, Galbiati F.

FASEB J. 2006 Apr;20(6):705-7. Epub 2006 Feb 2.

11.

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.

Hernández-Deviez DJ, Martin S, Laval SH, Lo HP, Cooper ST, North KN, Bushby K, Parton RG.

Hum Mol Genet. 2006 Jan 1;15(1):129-42. Epub 2005 Nov 30.

PMID:
16319126
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. No abstract available.

PMID:
15668980
13.

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C.

Hum Mutat. 2005 Jan;25(1):82-9.

PMID:
15580566
14.

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
15.

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
16.

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG.

J Neurol Neurosurg Psychiatry. 2004 Sep;75(9):1349-51.

17.

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, Ferrer I, Olivé M.

Neuromuscul Disord. 2004 May;14(5):321-4.

PMID:
15099591
18.

The caveolin proteins.

Williams TM, Lisanti MP.

Genome Biol. 2004;5(3):214. Epub 2004 Mar 1. Review.

19.

The biology of caveolae: lessons from caveolin knockout mice and implications for human disease.

Hnasko R, Lisanti MP.

Mol Interv. 2003 Dec;3(8):445-64. Review.

PMID:
14993453
20.

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

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