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Alicia Guemez-Gamboa
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Year
Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa
Frontiers in cellular neuroscience 13, 385, 2019
4592019
Primary cilia in the developing and mature brain
A Guemez-Gamboa, NG Coufal, JG Gleeson
Neuron 82 (3), 511-521, 2014
2692014
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
2322015
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
1162015
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
932014
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
872017
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
792011
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
772019
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
652008
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
482017
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
402010
Non-cell-autonomous mechanism of activity-dependent neurotransmitter switching
A Guemez-Gamboa, L Xu, D Meng, NC Spitzer
Neuron 82 (5), 1004-1016, 2014
392014
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
392011
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
252018
Characterization of seizure susceptibility in Pcdh19 mice
J Rakotomamonjy, NP Sabetfakhri, SL McDermott, A Guemez‐Gamboa
Epilepsia 61 (10), 2313-2320, 2020
192020
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
192011
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
182009
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
82021
Purkinje cell survival in organotypic cerebellar slice cultures
J Rakotomamonjy, A Guemez-Gamboa
JoVE (Journal of Visualized Experiments), e60353, 2019
52019
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
42022
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Articles 1–20