Carol Prieto-Morin
Overview
Explore the profile of Carol Prieto-Morin including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
183
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0
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Recent Articles
1.
Tosco-Herrera E, Munoz-Barrera A, Jaspez D, Rubio-Rodriguez L, Mendoza-Alvarez A, Rodriguez-Perez H, et al.
Hum Mutat
. 2022 Sep;
43(12):2010-2020.
PMID: 36054330
Most causal variants of Mendelian diseases are exonic. Whole-exome sequencing (WES) has become the diagnostic gold standard, but causative variant prioritization constitutes a bottleneck. Here we assessed an in-house sample-to-sequence...
2.
Martin-Nunez E, Donate-Correa J, Kannengiesser C, De Brauwere D, Leroy C, Oudin C, et al.
J Clin Med
. 2019 Apr;
8(4).
PMID: 31013726
Hyperphosphatemia is commonly present in end-stage renal disease. Klotho (KL) is implicated in phosphate homeostasis since it acts as obligate co-receptor for the fibroblast growth factor 23 (FGF23), a major...
3.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage J, Coste T, et al.
Eur J Med Genet
. 2018 Oct;
61(12):765-772.
PMID: 30315939
Methods: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. These included...
4.
Carra-Dalliere C, Ayrignac X, Prieto-Morin C, Girard P, Tournier-Lasserve E, Labauge P
Eur Neurol
. 2016 Dec;
77(3-4):113-114.
PMID: 28013302
No abstract available.
5.
Verdura E, Herve D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, et al.
Ann Neurol
. 2016 Sep;
80(5):741-753.
PMID: 27666438
Objective: Cerebral small vessel disease (cSVD) is a heterogeneous group of disorders. Screening of known cSVD genes identifies the causative mutation in <15% of familial cSVD cases. We sought to...
6.
Prieto-Morin C, Ayrignac X, Ellie E, Tournier-Lasserve E, Labauge P
J Neurol
. 2016 Jun;
263(9):1864-5.
PMID: 27314966
No abstract available.
7.
Verdura E, Herve D, Scharrer E, Amador M, Guyant-Marechal L, Philippi A, et al.
Brain
. 2015 Jun;
138(Pt 8):2347-58.
PMID: 26063658
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several...
8.
Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, et al.
J Mol Neurosci
. 2014 Mar;
53(2):171-5.
PMID: 24604296
Idiopathic basal ganglia calcification (IBGC) is a progressive cerebral disorder with diverse motor, cognitive, and psychiatric expression. It is inherited as an autosomal dominant trait. Three IBGC-causing genes have been...