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Items: 10

1.

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Vidal EA, Moyano TC, Bustos BI, Pérez-Palma E, Moraga C, Riveras E, Montecinos A, Azócar L, Soto DC, Vidal M, Di Genova A, Puschel K, Nürnberg P, Buch S, Hampe J, Allende ML, Cambiazo V, González M, Hodar C, Montecino M, Muñoz-Espinoza C, Orellana A, Reyes-Jara A, Travisany D, Vizoso P, Moraga M, Eyheramendy S, Maass A, De Ferrari GV, Miquel JF, Gutiérrez RA.

Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z.

2.

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.

Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A, Hinz S, Burmeister G, von Schönfels W, Schafmayer C, Völzke H, Völker U, Homuth G, Lerch MM, Santos JL, Puschel K, Bambs C, Roa JC, Gutiérrez RA, Hampe J, De Ferrari GV, Miquel JF.

Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z.

3.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.

Epilepsia. 2019 Jan 25. doi: 10.1111/epi.14653. [Epub ahead of print]

PMID:
30682224
4.

Spectrum of GABAA receptor variants in epilepsy.

Maljevic S, Møller RS, Reid CA, Pérez-Palma E, Lal D, May P, Lerche H.

Curr Opin Neurol. 2019 Jan 16. doi: 10.1097/WCO.0000000000000657. [Epub ahead of print]

PMID:
30664068
5.

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D.

Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb.

6.

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D.

J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29.

7.

Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons.

Pérez-Palma E, Andrade V, Caracci MO, Bustos BI, Villaman C, Medina MA, Ávila ME, Ugarte GD, De Ferrari GV.

Neural Plast. 2016;2016:4672841. doi: 10.1155/2016/4672841. Epub 2016 Dec 27.

8.

Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.

Pérez-Palma E, Bustos BI, Villamán CF, Alarcón MA, Avila ME, Ugarte GD, Reyes AE, Opazo C, De Ferrari GV; Alzheimer's Disease Neuroimaging Initiative; NIA-LOAD/NCRAD Family Study Group.

PLoS One. 2014 Apr 22;9(4):e95413. doi: 10.1371/journal.pone.0095413. eCollection 2014.

9.

Wnt/β-catenin signaling in Alzheimer's disease.

De Ferrari GV, Avila ME, Medina MA, Perez-Palma E, Bustos BI, Alarcon MA.

CNS Neurol Disord Drug Targets. 2014;13(5):745-54. Review.

PMID:
24365184
10.

A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease.

Alarcón MA, Medina MA, Hu Q, Avila ME, Bustos BI, Pérez-Palma E, Peralta A, Salazar P, Ugarte GD, Reyes AE, Martin GM, Opazo C, Moon RT, De Ferrari GV.

Neurobiol Aging. 2013 Jun;34(6):1709.e9-18. doi: 10.1016/j.neurobiolaging.2012.11.004. Epub 2012 Dec 6.

PMID:
23218566

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