Marie-Christine Minot-Myhie
Overview
Explore the profile of Marie-Christine Minot-Myhie including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
131
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0
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Recent Articles
1.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, et al.
Brain
. 2024 May;
147(11):3849-3862.
PMID: 38696726
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this...
2.
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, et al.
Acta Neuropathol Commun
. 2021 Sep;
9(1):155.
PMID: 34535181
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca-dependent muscle contraction. Abnormal RyR1 activity...
3.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala N, et al.
Circulation
. 2019 Jun;
140(4):293-302.
PMID: 31155932
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included...
4.
Dessein A, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, et al.
Clin Chim Acta
. 2017 May;
471:101-106.
PMID: 28532786
Background: Despite ACADS (acyl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C>T and c.625G>A) are considered to be non-pathogenic, encoded proteins are known to exhibit altered kinetics. Whether or not, they might...
5.
Belhomme N, Maamar A, Le Gallou T, Minot-Myhie M, Larralde A, Champtiaux N, et al.
Ann Hematol
. 2017 Jan;
96(4):695-696.
PMID: 28058489
No abstract available.
6.
Calvo J, Funalot B, Ouvrier R, Lazaro L, Toutain A, De Mas P, et al.
Arch Neurol
. 2009 Dec;
66(12):1511-6.
PMID: 20008656
Background: Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features. Objective: To describe MFN2 mutations and associated...