Cecile Martinat
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Explore the profile of Cecile Martinat including associated specialties, affiliations and a list of published articles.
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54
Citations
1675
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Recent Articles
1.
Frison-Roche C, Demier C, Cottin S, Laine J, Arandel L, Halliez M, et al.
Brain
. 2024 Oct;
PMID: 39460437
Muscleblind-like proteins (MBNLs) are a family of RNA-binding proteins that play essential roles in the regulation of RNA metabolism. Beyond their canonical role in RNA regulation, MBNL proteins have emerged...
2.
Barbeau S, Semprez F, Dobbertin A, Merriadec L, Roussange F, Eymard B, et al.
Int J Mol Sci
. 2023 Nov;
24(22).
PMID: 38003406
Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. CMSs with acetylcholinesterase deficiency are due to pathogenic variants in COLQ, a collagen that...
3.
Musawi S, Donnio L, Zhao Z, Magnani C, Rassinoux P, Binda O, et al.
Nat Commun
. 2023 Nov;
14(1):7384.
PMID: 37968267
Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by mutations in the multifunctional protein Survival of Motor Neuron, or SMN. Within the nucleus, SMN localizes to Cajal bodies,...
4.
Gazzola M, Martinat C
Int J Mol Sci
. 2023 Oct;
24(20).
PMID: 37894969
Over the past 20 years, the use of pluripotent stem cells to mimic the complexities of the human neuromuscular junction has received much attention. Deciphering the key mechanisms underlying the...
5.
Saidani M, Darle A, Jarrige M, Polveche H, El Kassar L, Julie S, et al.
Int J Mol Sci
. 2023 Apr;
24(7).
PMID: 37047372
Melanocytes are essential for skin homeostasis and protection, and their loss or misfunction leads to a wide spectrum of diseases. Cell therapy utilizing autologous melanocytes has been used for years...
6.
Berenger-Currias N, Martinat C, Baghdoyan S
Cells
. 2023 Feb;
12(4).
PMID: 36831237
Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease caused by the expansion of a CTG repeat tract within the 3' untranslated region (3' UTR) of the dystrophia myotonica...
7.
Strathmann E, Holker I, Tschernoster N, Hosseinibarkooie S, Come J, Martinat C, et al.
Am J Hum Genet
. 2023 Feb;
110(3):442-459.
PMID: 36812914
Dysregulated Plastin 3 (PLS3) levels associate with a wide range of skeletal and neuromuscular disorders and the most common types of solid and hematopoietic cancer. Most importantly, PLS3 overexpression protects...
8.
Tahraoui-Bories J, Merien A, Gonzalez-Barriga A, Laine J, Leteur C, Polveche H, et al.
Neuropathol Appl Neurobiol
. 2022 Dec;
49(1):e12876.
PMID: 36575942
Aims: Myotonic dystrophy type I (DM1) is one of the most frequent muscular dystrophies in adults. Although DM1 has long been considered mainly a muscle disorder, growing evidence suggests the...
9.
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, et al.
Acta Neuropathol
. 2022 Aug;
144(4):707-731.
PMID: 35948834
Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance....
10.
Januel C, Menduti G, Mamchaoui K, Martinat C, Artero R, Konieczny P, et al.
Cell Mol Life Sci
. 2022 Jul;
79(8):441.
PMID: 35864358
Spinal muscular atrophy (SMA) is a genetic disease resulting in the loss of α-motoneurons followed by muscle atrophy. It is caused by knock-out mutations in the survival of motor neuron...