Isabelle Marty
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Explore the profile of Isabelle Marty including associated specialties, affiliations and a list of published articles.
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63
Citations
1317
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Recent Articles
31.
Bohm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, et al.
PLoS One
. 2013 Jul;
8(6):e67527.
PMID: 23826317
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the...
32.
Rendu J, Brocard J, Denarier E, Monnier N, Pietri-Rouxel F, Beley C, et al.
Hum Gene Ther
. 2013 Jun;
24(7):702-13.
PMID: 23805838
Central core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently...
33.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Faure J, Smirnow D, et al.
Hum Mol Genet
. 2012 Dec;
22(8):1483-92.
PMID: 23236030
Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is...
34.
Fourest-Lieuvin A, Rendu J, Osseni A, Pernet-Gallay K, Rossi D, Oddoux S, et al.
J Cell Sci
. 2012 Apr;
125(Pt 14):3443-53.
PMID: 22505613
The terminal cisternae represent one of the functional domains of the skeletal muscle sarcoplasmic reticulum (SR). They are closely apposed to plasma membrane invaginations, the T-tubules, with which they form...
35.
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, et al.
Hum Mol Genet
. 2012 Mar;
21(12):2759-67.
PMID: 22422768
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease so far related to mutations in the cardiac ryanodine receptor (RYR2) or the cardiac calsequestrin (CASQ2) genes. Because mutations in...
36.
Dowling J, Arbogast S, Hur J, Nelson D, McEvoy A, Waugh T, et al.
Brain
. 2012 Mar;
135(Pt 4):1115-27.
PMID: 22418739
The skeletal muscle ryanodine receptor is an essential component of the excitation-contraction coupling apparatus. Mutations in RYR1 are associated with several congenital myopathies (termed RYR1-related myopathies) that are the most...
37.
Olah T, Fodor J, Oddoux S, Ruzsnavszky O, Marty I, Csernoch L
Pflugers Arch
. 2011 Aug;
462(4):599-610.
PMID: 21811790
To date, four isoforms of triadins have been identified in rat skeletal muscle. While the function of the 95-kDa isoform in excitation-contraction coupling has been studied in detail, the role...
38.
Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N, et al.
Hum Mutat
. 2011 May;
32(9):995-9.
PMID: 21618644
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in...
39.
Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, et al.
Hum Mutat
. 2010 Jun;
31(7):E1544-50.
PMID: 20583297
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in...
40.
Vassilopoulos S, Oddoux S, Groh S, Cacheux M, Faure J, Brocard J, et al.
Biochemistry
. 2010 Jun;
49(29):6130-5.
PMID: 20565104
The triadin isoforms Trisk 95 and Trisk 51 are both components of the skeletal muscle calcium release complex. To investigate the specific role of Trisk 95 and Trisk 51 isoforms...