Structural Analysis of Variants of the Ferritin Light Chain Protein and Its Relationship with Neuroferritinopathy von Gómez Hernández, Madelin, Soto-Ospina, Alejandro, Osorio, Cristian Andrés, Villegas-Lanau, Andrés

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Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features von Acosta‐Uribe, Juliana, Villegas‐Lanau, Andrés, Vallejo, Dionis, Ramírez‐Aguilar, Laura, Solano, Juan M., Mejía‐Cupajita, Bárbara, Aguillón, David, Moreno, Sonia, Méndez, Luis G., Baena, Ana, Madrigal, Lucía, Bocanegra, Yamile, Quiroz, Yakeel T., García, Gloria P., Vasquez, Daniel, Arbeláez, Andrés, Lopera, Francisco, Beach, Thomas G., Kosik, Kenneth S., White, Charles L., Giraldo‐Chica, Margarita

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Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin von Del Valle-Peréz, Manuela, Mejía-García, Alejandro, Echeverri-López, Dayana, Gallo-Bonilla, Katherine, Tejada-Moreno, Johanna A., Villegas‑Lanau, Andrés, Chvatal-Medina, Mateo, Restrepo, Jorge E., Cuartas-Montoya, Gina, Zapata-Builes, Wildeman

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects von Acosta-Uribe, Juliana, Aguillón, David, Cochran, J Nicholas, Giraldo, Margarita, Madrigal, Lucía, Killingsworth, Bradley W, Singhal, Rijul, Labib, Sarah, Alzate, Diana, Velilla, Lina, Moreno, Sonia, García, Gloria P, Saldarriaga, Amanda, Piedrahita, Francisco, Hincapié, Liliana, López, Hugo E, Perumal, Nithesh, Morelo, Leonilde, Vallejo, Dionis, Solano, Juan Marcos, Reiman, Eric M, Surace, Ezequiel I, Itzcovich, Tatiana, Allegri, Ricardo, Sánchez-Valle, Raquel, Villegas-Lanau, Andrés, White, 3rd, Charles L, Matallana, Diana, Myers, Richard M, Browning, Sharon R, Lopera, Francisco, Kosik, Kenneth S

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Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer’s Disease Mutations von Soto-Ospina, Alejandro, Araque Marín, Pedronel, Bedoya, Gabriel de Jesús, Villegas Lanau, Andrés

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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site von Soto-Ospina, Alejandro, Araque Marín, Pedronel, Bedoya, Gabriel, Sepulveda-Falla, Diego, Villegas Lanau, Andrés

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Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes von Arias-Pérez, Ruben D, Gallego-Quintero, Salomón, Taborda, Natalia A, Restrepo, Jorge E, Zambrano-Cruz, Renato, Tamayo-Agudelo, William, Bermúdez, Patricia, Duque, Constanza, Arroyave, Ismael, Tejada-Moreno, Johanna A, Villegas-Lanau, Andrés, Mejía-García, Alejandro, Zapata, Wildeman, Hernandez, Juan C, Cuartas-Montoya, Gina

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Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecula... von López-Rivera, Juan Javier, Rodríguez-Salazar, Luna, Soto-Ospina, Alejandro, Estrada-Serrato, Carlos, Serrano, David, Chaparro-Solano, Henry Mauricio, Londoño, Olga, Rueda, Paula A., Ardila, Geraldine, Villegas-Lanau, Andrés, Godoy-Corredor, Marcela, Cuartas, Mauricio, Vélez, Jorge I., Vidal, Oscar M., Isaza-Ruget, Mario A., Arcos-Burgos, Mauricio

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Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family von Tejada Moreno, Johanna Alexandra, Villegas Lanau, Andrés, Madrigal Zapata, Lucia, Baena Pineda, Ana Yulied, Velez Hernandez, Juan, Campo Nieto, Omer, Soto Ospina, Alejandro, Araque Marín, Pedronel, Rishishwar, Lavanya, Norris, Emily T, Chande, Aroon T, Jordan, I King, Bedoya Berrio, Gabriel

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Common disbalance in the brain parenchyma of dementias: Phospholipid profile analysis between CADASIL and sporadic Alzheimer's disease von Sabogal-Guáqueta, Angélica María, Arias-Londoño, Julián David, Gutierrez-Vargas, Johanna, Sepulveda-Falla, D., Glatzel, M., Villegas-Lanau, Andrés, Cardona-Gómez, Gloria Patricia

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Colocalization of the β amyloid peptide with bacteria in postmortem brain tissue of patients with familial Alzheimer's disease von Gomez, Johana, Villegas‐Lanau, Carlos Andrés, Mesa, Ana

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Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities von Fajardo-Jiménez, María José, Tejada-Moreno, Johanna A, Mejía-García, Alejandro, Villegas-Lanau, Andrés, Zapata-Builes, Wildeman, Restrepo, Jorge E, Cuartas, Gina P, Hernandez, Juan C

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Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes von Sepulveda-Falla, Diego, Villegas Lanau, Carlos Andrés, White Iii, Charles, Serrano, Geidy E, Acosta-Uribe, Juliana, Mejía-Cupajita, Barbara, Villalba-Moreno, Nelson David, Lu, Pinzhang, Glatzel, Markus, Kofler, Julia K, Ghetti, Bernardino, Frosch, Matthew P, Restrepo, Francisco Lopera, Kosik, Kenneth S, Beach, Thomas G

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Human Herpesvirus detection and identification in postmortem brain tissue of patients with Alzheimer's disease von Gomez, Johana, Villegas‐Lanau, Carlos Andrés, Mesa, Ana

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Beta-Secretase 1 Underlies Reactive Astrocytes and Endothelial Disruption in Neurodegeneration von Chacón-Quintero, María Victoria, Pineda-López, Lina Gisela, Villegas-Lanau, Carlos Andrés, Posada-Duque, Rafael, Cardona-Gómez, Gloria Patricia

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Tautología genética entre neurodesarrollo y neurodegeneración von Acosta-Baena, Natalia, Tejada-Moreno, Johanna, Mejía, Alejandro, Preciado, Mauricio, Madrigal, Lucia, Caro, María Antonieta, Rojas, Winston, Arcos-Burgos, Mauricio, Lanau, Carlos Andrés Villegas

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BACE1 and SCD1 are associated with neurodegeneration von Bedoya-Guzmán, Ferley A., Pacheco-Herrero, Mar, Salomon-Cruz, Ivan Daniel, Barrera-Sandoval, Angela Maria, Gutierrez Vargas, Johanna Andrea, Villamil-Ortiz, Javier Gustavo, Villegas Lanau, Carlos Andres, Arias-Londoño, Julián David, Area-Gomez, Estela, Cardona Gomez, Gloria Patricia

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Immunomodulation and Antioxidant Activities as Possible Trypanocidal and Cardioprotective Mechanisms of Major Terpenes from Lippia alba Essential Oils in an Experimental Model of C... von Espinel-Mesa, Denerieth Ximena, González Rugeles, Clara Isabel, Mantilla Hernández, Julio César, Stashenko, Elena E., Villegas-Lanau, Carlos Andrés, Quimbaya Ramírez, John Jaime, García Sánchez, Liliana Torcoroma

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CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review von Acosta-Baena, Natalia, Tejada-Moreno, Johanna Alexandra, Arcos-Burgos, Mauricio, Villegas-Lanau, Carlos Andrés

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Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer’s disease profile and possible mechanisms of disease protection von Almeida, Maria Camila, Eger, Sarah J., He, Caroline, Audouard, Morgane, Nikitina, Arina, Glasauer, Stella M.K., Han, Dasol, Mejía-Cupajita, Barbara, Acosta-Uribe, Juliana, Villalba-Moreno, Nelson David, Littau, Jessica Lisa, Elcheikhali, Megan, Rivera, Erica Keane, Carrettiero, Daniel Carneiro, Villegas-Lanau, Carlos Andrés, Sepulveda-Falla, Diego, Lopera, Francisco, Kosik, Kenneth S.

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