Genetic causes and modifiers of autism spectrum disorder L Rylaarsdam, A Guemez-Gamboa Frontiers in cellular neuroscience 13, 385, 2019 | 494 | 2019 |
Primary cilia in the developing and mature brain A Guemez-Gamboa, NG Coufal, JG Gleeson Neuron 82 (3), 511-521, 2014 | 272 | 2014 |
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 237 | 2015 |
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development ST Baek, B Copeland, EJ Yun, SK Kwon, A Guemez-Gamboa, ... Nature medicine 21 (12), 1445-1454, 2015 | 119 | 2015 |
Mutations in CSPP1 lead to classical Joubert syndrome N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ... The American Journal of Human Genetics 94 (1), 80-86, 2014 | 96 | 2014 |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 89 | 2017 |
Zika virus protease cleavage of host protein septin-2 mediates mitotic defects in neural progenitors H Li, L Saucedo-Cuevas, L Yuan, D Ross, A Johansen, D Sands, ... Neuron 101 (6), 1089-1098. e4, 2019 | 81 | 2019 |
Activation of NOX2 by the stimulation of ionotropic and metabotropic glutamate receptors contributes to glutamate neurotoxicity in vivo through the production of reactive … A Guemez-Gamboa, AM Estrada-Sánchez, T Montiel, B Páramo, ... Journal of Neuropathology & Experimental Neurology 70 (11), 1020-1035, 2011 | 78 | 2011 |
Role of NADPH oxidase in the apoptotic death of cultured cerebellar granule neurons A Coyoy, A Valencia, A Guemez-Gamboa, J Morán Free Radical Biology and Medicine 45 (8), 1056-1064, 2008 | 66 | 2008 |
Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia I Marin-Valencia, A Gerondopoulos, MS Zaki, T Ben-Omran, M Almureikhi, ... The American Journal of Human Genetics 101 (3), 441-450, 2017 | 50 | 2017 |
Apoptosis and autophagy in rat cerebellar granule neuron death: Role of reactive oxygen species P Maycotte, A Guemez‐Gamboa, J Moran Journal of neuroscience research 88 (1), 73-85, 2010 | 40 | 2010 |
Non-cell-autonomous mechanism of activity-dependent neurotransmitter switching A Guemez-Gamboa, L Xu, D Meng, NC Spitzer Neuron 82 (5), 1004-1016, 2014 | 39 | 2014 |
Reactive oxygen species participate in the p38-mediated apoptosis induced by potassium deprivation and staurosporine in cerebellar granule neurons Y Ramiro-Cortés, A Guemez-Gamboa, J Morán The International Journal of Biochemistry & Cell Biology 43 (9), 1373-1382, 2011 | 39 | 2011 |
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome A Guemez‐Gamboa, AO Çağlayan, V Stanley, A Gregor, MS Zaki, ... Annals of neurology 84 (5), 638-647, 2018 | 27 | 2018 |
Characterization of seizure susceptibility in Pcdh19 mice J Rakotomamonjy, NP Sabetfakhri, SL McDermott, A Guemez‐Gamboa Epilepsia 61 (10), 2313-2320, 2020 | 20 | 2020 |
Reactive oxygen species are related to ionic fluxes and volume decrease in apoptotic cerebellar granule neurons: role of NOX enzymes B Hernández‐Enríquez, A Guemez‐Gamboa, J Morán Journal of neurochemistry 117 (4), 654-664, 2011 | 19 | 2011 |
NOX2 mediates apoptotic death induced by staurosporine but not by potassium deprivation in cerebellar granule neurons A Guemez‐Gamboa, J Morán Journal of neuroscience research 87 (11), 2531-2540, 2009 | 18 | 2009 |
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy E Spinelli, KR Christensen, E Bryant, A Schneider, J Rakotomamonjy, ... Annals of neurology 90 (2), 274-284, 2021 | 8 | 2021 |
Purkinje cell survival in organotypic cerebellar slice cultures J Rakotomamonjy, A Guemez-Gamboa JoVE (Journal of Visualized Experiments), e60353, 2019 | 5 | 2019 |
In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development L Rylaarsdam, T Reddy, A Guemez-Gamboa Trends in Genetics 38 (2), 109-112, 2022 | 4 | 2022 |