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Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.
Ann Neurol. 2016.
PMID: 27666438
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E.
Verdura E, et al. Among authors: prieto morin c.
Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.
Brain. 2015.
PMID: 26063658
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CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis.
Prieto-Morin C, Ayrignac X, Ellie E, Tournier-Lasserve E, Labauge P.
Prieto-Morin C, et al.
J Neurol. 2016 Sep;263(9):1864-5. doi: 10.1007/s00415-016-8197-x. Epub 2016 Jun 17.
J Neurol. 2016.
PMID: 27314966
No abstract available.
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PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.
Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, Hannequin D.
Nicolas G, et al. Among authors: prieto morin c.
J Mol Neurosci. 2014 Jun;53(2):171-5. doi: 10.1007/s12031-014-0265-z. Epub 2014 Mar 7.
J Mol Neurosci. 2014.
PMID: 24604296
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Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N.
Cavallin M, et al. Among authors: prieto morin c.
Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11.
Eur J Med Genet. 2018.
PMID: 30315939
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TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement.
Carra-Dalliere C, Ayrignac X, Prieto-Morin C, Girard P, Tournier-Lasserve E, Labauge P.
Carra-Dalliere C, et al. Among authors: prieto morin c.
Eur Neurol. 2017;77(3-4):113-114. doi: 10.1159/000455095. Epub 2016 Dec 24.
Eur Neurol. 2017.
PMID: 28013302
No abstract available.
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A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.
Martín-Núñez E, Donate-Correa J, Kannengiesser C, De Brauwere DP, Leroy C, Oudin C, Friedlander G, Prieto-Morín C, Tagua VG, Ureña-Torres PA, Navarro-González JF.
Martín-Núñez E, et al. Among authors: prieto morin c.
J Clin Med. 2019 Apr 12;8(4):500. doi: 10.3390/jcm8040500.
J Clin Med. 2019.
PMID: 31013726
Free PMC article.
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Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E, Muñoz-Barrera A, Jáspez D, Rubio-Rodríguez LA, Mendoza-Alvarez A, Rodriguez-Perez H, Jou J, Iñigo-Campos A, Corrales A, Ciuffreda L, Martinez-Bugallo F, Prieto-Morin C, García-Olivares V, González-Montelongo R, Lorenzo-Salazar JM, Marcelino-Rodriguez I, Flores C.
Tosco-Herrera E, et al. Among authors: prieto morin c.
Hum Mutat. 2022 Dec;43(12):2010-2020. doi: 10.1002/humu.24459. Epub 2022 Sep 12.
Hum Mutat. 2022.
PMID: 36054330
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