Carinne Roudaut
Overview
Explore the profile of Carinne Roudaut including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
459
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Recent Articles
1.
Vissing J, Dahlqvist J, Roudaut C, Poupiot J, Richard I, Duno M, et al.
Hum Mutat
. 2020 Jun;
41(9):1507-1513.
PMID: 32557990
Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A...
2.
Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, et al.
Sci Transl Med
. 2019 Nov;
11(520).
PMID: 31776291
Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (). Previous experiments using adeno-associated viral (AAV) vector-mediated calpain 3...
3.
Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, et al.
Muscle Nerve
. 2016 Oct;
56(1):129-135.
PMID: 27759885
Introduction: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype...
4.
de Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, et al.
Neurology
. 2015 Nov;
85(24):2126-35.
PMID: 26581302
Objective: To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. Methods: We performed targeted exome sequencing on one patient presenting a deficiency...
5.
Pryadkina M, Lostal W, Bourg N, Charton K, Roudaut C, Hirsch M, et al.
Mol Ther Methods Clin Dev
. 2015 Jun;
2:15009.
PMID: 26029720
Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large...
6.
Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea J, Penisson-Besnier I, et al.
Eur J Hum Genet
. 2014 Oct;
23(7):929-34.
PMID: 25351777
Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this...
7.
Monjaret F, Bourg N, Suel L, Roudaut C, Le Roy F, Richard I, et al.
Mol Ther
. 2014 Mar;
22(6):1176-1187.
PMID: 24618805
Muscular dystrophies are a group of genetically distinct diseases for which no treatment exists. While gene transfer approach is being tested for several of these diseases, such strategies can be...
8.
Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, et al.
Circulation
. 2013 Aug;
128(10):1094-104.
PMID: 23908349
Background: Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the skeletal muscle that affects predominantly the proximal limb muscles. We previously demonstrated the...
9.
Monjaret F, Suel-Petat L, Bourg-Alibert N, Vihola A, Marchand S, Roudaut C, et al.
Hum Gene Ther Clin Dev
. 2013 Jun;
24(2):65-76.
PMID: 23721401
Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy. Both these proteins have...
10.
Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, et al.
PLoS One
. 2012 Jun;
7(5):e38036.
PMID: 22666441
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...