The Bad, the Good, and the Ugly about Oxidative Stress

od Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Izdano 2012

TPEN Induces Apoptosis Independently of Zinc Chelator Activity in a Model of Acute Lymphoblastic Leukemia and Ex Vivo Acute Leukemia Cells through Oxidative Stress and Mitochondria...

od Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene
Izdano 2012

Response to Rotenone Is Glucose-Sensitive in a Model of Human Acute Lymphoblastic Leukemia: Involvement of Oxidative Stress Mechanism, DJ-1, Parkin, and PINK-1 Proteins

od Mendivil-Perez, Miguel, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Izdano 2014

Vitamin K3 and vitamin C alone or in combination induced apoptosis in leukemia cells by a similar oxidative stress signalling mechanism

od Bonilla-Porras, Angelica R, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Izdano 2011

Dmp53, basket and drICE gene knockdown and polyphenol gallic acid increase life span and locomotor activity in a Drosophila Parkinson’s disease model

od Ortega-Arellano, Hector Flavio, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
Izdano 2013

iPSCs-derived nerve-like cells from familial Alzheimer’s disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome

od Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Kosik, Kenneth S., Lopera, Francisco, Jimenez-Del-Rio, Marlene
izdano v Neurosci Lett (2019)

Cholinergic-like neurons carrying PSEN1 E280A mutation from familial Alzheimer’s disease reveal intraneuronal sAPPβ fragments accumulation, hyperphosphorylation of TAU, oxidative s...

od Soto-Mercado, Viviana, Mendivil-Perez, Miguel, Velez-Pardo, Carlos, Lopera, Francisco, Jimenez-Del-Rio, Marlene
izdano v PLoS One (2020)

Confirmation of RAX gene involvement in human anophthalmia

od Lequeux, L., Rio, Marlène, Vigouroux, Armelle, Titeux, Matthias, Etchevers, Heather, Malecaze, François, Chassaing, Nicolas, Calvas, Patrick
Izdano 2008

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

od Philippe, Anne, Craus, Yann, Rio, Marlène, Bahi-Buisson, Nadia, Boddaert, Nathalie, Malan, Valérie, Bonnefont, Jean-Paul, Robel, Laurence
izdano v BMC Psychiatry (2015)

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

od Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence
Izdano 2004

Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

od Rodriguez, Libia M, Giraldo, Mabel C, Velasquez, Laura I, Alvarez, Cristiam M, Garcia, Luis F, Jimenez-Del-Rio, Marlene, Velez-Pardo, Carlos
izdano v Genet Mol Biol (2015)

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto...

od Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Izdano 2007

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

od Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson, Nadia
Izdano 2009

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

od Philippe, Orianne, Rio, Marlène, Carioux, Astrid, Plaza, Jean-Marc, Guigue, Philippe, Molinari, Florence, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschke, Patrick, Smahi, Asma, Munnich, Arnold, Colleaux, Laurence
Izdano 2009

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

od Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Izdano 2010

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

od Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, Valérie, Colleaux, Laurence
izdano v Eur J Hum Genet (2016)

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

od Lagoutte-Renosi, Jennifer, Ségalas-Milazzo, Isabelle, Crahes, Marie, Renosi, Florian, Menu-Bouaouiche, Laurence, Torre, Stéphanie, Lardennois, Caroline, Rio, Marlène, Marret, Stéphane, Brasse-Lagnel, Carole, Laquerrière, Annie, Bekri, Soumeya
izdano v JIMD Rep (2015)

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

od Collet, Marie, Assouline, Zahra, Bonnet, Damien, Rio, Marlène, Iserin, Franck, Sidi, Daniel, Goldenberg, Alice, Lardennois, Caroline, Metodiev, Metodi Dimitrov, Haberberger, Birgit, Haack, Tobias, Munnich, Arnold, Prokisch, Holger, Rötig, Agnès
izdano v Eur J Hum Genet (2016)

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

od Mafi, Sarah, Laroche-Raynaud, Cécile, Chazelas, Pauline, Lia, Anne-Sophie, Derouault, Paco, Sturtz, Franck, Baaj, Yasser, Froget, Rachel, Rio, Marlène, Benoist, Jean-François, Poumeaud, François, Favreau, Frédéric, Faye, Pierre-Antoine
izdano v Brain Sci (2020)

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

od Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence
Izdano 2013