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Items: 7

1.

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.

J Clin Med. 2019 Apr 12;8(4). pii: E500. doi: 10.3390/jcm8040500.

2.

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.

Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11.

PMID:
30315939
3.

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.

Eur Neurol. 2017;77(3-4):113-114. doi: 10.1159/000455095. Epub 2016 Dec 24. No abstract available.

PMID:
28013302
4.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
5.

CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis.

Prieto-Morin C, Ayrignac X, Ellie E, Tournier-Lasserve E, Labauge P.

J Neurol. 2016 Sep;263(9):1864-5. doi: 10.1007/s00415-016-8197-x. Epub 2016 Jun 17. No abstract available.

PMID:
27314966
6.

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.

Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.

PMID:
26063658
7.

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.

J Mol Neurosci. 2014 Jun;53(2):171-5. doi: 10.1007/s12031-014-0265-z. Epub 2014 Mar 7.

PMID:
24604296

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