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
21.
Garibaldi M, Rendu J, Brocard J, Lacene E, Faure J, Brochier G, et al.
Acta Neuropathol Commun
. 2019 Jan;
7(1):3.
PMID: 30611313
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of...
22.
Sebastien M, Giannesini B, Aubin P, Brocard J, Chivet M, Pietrangelo L, et al.
Skelet Muscle
. 2018 Sep;
8(1):30.
PMID: 30231928
Background: The skeletal muscle fiber has a specific and precise intracellular organization which is at the basis of an efficient muscle contraction. Microtubules are long known to play a major...
23.
Monge C, Distasio N, Rossi T, Sebastien M, Sakai H, Kalman B, et al.
Stem Cell Res Ther
. 2017 May;
8(1):104.
PMID: 28464938
Background: Satellite cells are quiescent resident muscle stem cells that present an important potential to regenerate damaged tissue. However, this potential is diminished once they are removed from their niche...
24.
Marty I, Faure J
J Neuromuscul Dis
. 2016 Dec;
3(4):443-453.
PMID: 27911331
During the complex series of events leading to muscle contraction, the initial electric signal coming from motor neurons is transformed into an increase in calcium concentration that triggers sliding of...
25.
Cacheux M, Blum A, Sebastien M, Wozny A, Brocard J, Mamchaoui K, et al.
J Neuromuscul Dis
. 2016 Nov;
2(4):421-432.
PMID: 27858745
Background: Central Core Disease (CCD) is a congenital myopathy often resulting from a mutation in RYR1 gene. Mutations in RyR1 can increase or decrease channel activity, or induce a reduction...
26.
Rendu J, Montjean R, Coutton C, Suri M, Chicanne G, Petiot A, et al.
Hum Mutat
. 2016 Oct;
38(2):152-159.
PMID: 27790796
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is...
27.
Osseni A, Sebastien M, Sarrault O, Baudet M, Coute Y, Faure J, et al.
J Cell Sci
. 2016 Aug;
129(20):3744-3755.
PMID: 27562070
In skeletal muscle, the triad is a structure comprising a transverse (T)-tubule and sarcoplasmic reticulum (SR) cisternae. Triads constitute the basis of excitation-contraction coupling as the cradle of the Ca...
28.
Marty I
J Physiol
. 2015 Aug;
593(15):3261-6.
PMID: 26228554
The calcium release complex is the major player in excitation-contraction coupling, both in cardiac and skeletal muscle. The core of the complex is the ryanodine receptor, and triadin is a...
29.
Falcone S, Roman W, Hnia K, Gache V, Didier N, Laine J, et al.
EMBO Mol Med
. 2014 Sep;
6(11):1455-75.
PMID: 25262827
Mutations in amphiphysin-2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. Mis-splicing of amphiphysin-2/BIN1...
30.
Denegri M, Bongianino R, Lodola F, Boncompagni S, De Giusti V, Avelino-Cruz J, et al.
Circulation
. 2014 Jun;
129(25):2673-81.
PMID: 24888331
Background: Catecholaminergic polymorphic ventricular tachycardia is an inherited arrhythmogenic disorder characterized by sudden cardiac death in children. Drug therapy is still insufficient to provide full protection against cardiac arrest, and...