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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F. Delmiro A, et al. Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24105702
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ, García-Silva MT, Barcia G, Delmiro A, Rodríguez-García ME, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F. Martín MÁ, et al. Clin Genet. 2017 Jan;91(1):46-53. doi: 10.1111/cge.12815. Epub 2016 Jul 4. Clin Genet. 2017. PMID: 27256614
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Martín-Hernández E, Rodríguez-García ME, Camacho A, Matilla-Dueñas A, García-Silva MT, Quijada-Fraile P, Corral-Juan M, Tejada-Palacios P, de Las Heras RS, Arenas J, Martín MA, Martínez-Azorín F. Martín-Hernández E, et al. Neurogenetics. 2016 Oct;17(4):259-263. doi: 10.1007/s10048-016-0496-y. Epub 2016 Sep 28. Neurogenetics. 2016. PMID: 27679995
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Martín-Hernández E, García-Silva MT, Quijada-Fraile P, Rodríguez-García ME, Rivera H, Hernández-Laín A, Coca-Robinot D, Fernández-Toral J, Arenas J, Martín MA, Martínez-Azorín F. Martín-Hernández E, et al. Pediatr Dev Pathol. 2017 Sep-Oct;20(5):416-420. doi: 10.1177/1093526616686439. Epub 2017 Jan 25. Pediatr Dev Pathol. 2017. PMID: 28812460
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. Rodríguez-García ME, et al. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053780 Free PMC article.
45 results