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
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1317
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Recent Articles
11.
Beaufils M, Travard L, Rendu J, Marty I
Curr Pharm Des
. 2021 Sep;
28(1):15-25.
PMID: 34514983
RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. No treatment exists for any of these myopathies today, which could change in the...
12.
Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, et al.
Hum Mol Genet
. 2020 Dec;
29(24):3882-3891.
PMID: 33355670
Striated preferentially expressed gene (SPEG), a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations...
13.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, et al.
Acta Neuropathol Commun
. 2020 Nov;
8(1):192.
PMID: 33176865
Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the...
14.
Geraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, et al.
J Med Genet
. 2020 Sep;
58(9):602-608.
PMID: 32994279
Background: Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Methods: Using next-generation sequencing, we identified three patients with pathogenic variants in...
15.
Ali N, Rezvani H, Motei D, Suleman S, Mahfouf W, Marty I, et al.
Sci Rep
. 2020 Jul;
10(1):12246.
PMID: 32699238
Developing trustworthy, cost effective, minimally or non-invasive glucose sensing strategies is of great need for diabetic patients. In this study, we used an experimental type I diabetic mouse model to...
16.
Bosson C, Rendu J, Pelletier L, Abriat A, Chatagnon A, Brocard J, et al.
J Sci Med Sport
. 2020 May;
23(11):1021-1027.
PMID: 32471784
Objectives: Exertional Heat Stroke (EHS) is one of the top three causes of sudden death in athletes. Extrinsic and intrinsic risk factors have been identified but the genetic causes still...
17.
Clemens D, Tester D, Marty I, Ackerman M
Heart Rhythm
. 2020 May;
17(6):1017-1024.
PMID: 32402482
Background: Triadin knockout syndrome (TKOS) is a rare arrhythmia syndrome caused by recessive null variants in TRDN-encoded cardiac triadin 1. TKOS has presented frequently with cardiac arrest in childhood. Objective:...
18.
Sebastien M, Aubin P, Brocard J, Brocard J, Marty I, Faure J
Mol Biol Cell
. 2019 Dec;
31(4):261-272.
PMID: 31877066
In skeletal muscle, proteins of the calcium release complex responsible for the excitation-contraction (EC) coupling are exclusively localized in specific reticulum-plasma membrane (ER-PM) contact points named triads. The CRC protein...
19.
Rendu J, Van Noolen L, Garrel C, Brocard J, Marty I, Corne C, et al.
Ann Clin Transl Neurol
. 2019 Nov;
6(12):2573-2578.
PMID: 31705625
Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance...
20.
Cacheux M, Fauconnier J, Thireau J, Osseni A, Brocard J, Roux-Buisson N, et al.
Mol Ther
. 2019 Oct;
28(1):171-179.
PMID: 31607542
Recessive forms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are induced by mutations in genes encoding triadin or calsequestrin, two proteins that belong to the Ca release complex, responsible for intracellular...