Publications by authors named "Maria V Fernandez"

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Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen

Mol Neurodegener· December 2025

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Basic Science and Pathogenesis.
Ting-Chen Wang, Jigyasha Timsina, Chenyang Jiang, Daniel L McCartney, Feifei Tao, Maria Victoria Fernandez

Alzheimers Dement· December 2025

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Polygenic risk for psychiatric disorders and its association with neuropsychiatric symptoms in dementia.
Jenna Najar, Itziar de Rojas, Maria Carolina Dalmasso, Maria Victoria Fernandez, Sterre C M de Boer

Int Rev Psychiatry· December 2025

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Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness.
Maria V Fernandez, Alexandra Sirven, Brooke Pickles, Sheena Hamid, Aimee Nunez Selva

Cureus· November 2025

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Cerebrospinal fluid proteomic signatures in cognitively normal individuals identify distinct clusters linked to neurodegeneration.
Dahun Seo, Anh N Do, Gyujin Heo, Jiseon Kwon, Soomin Song, Maria Victoria Fernandez

Nat Aging· October 2025

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Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.
Itziar de Rojas, Marc Hulsman, Niccoló Tesi, Rosalina M L van Spaendonk, Jetske van der Schaar, Maria Victoria Fernandez

Alzheimers Res Ther· October 2025

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Lactoferrin levels in cerebrospinal fluid exhibits isoform-specific associations with Alzheimer's disease.
Feiyang Zhao, Raquel Puerta, Yaxi Wang, Eva Beckett, Pablo Garcia Gonzalez, Maria Victoria Fernandez

medRxiv· October 2025

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Sex-specific genetic regulation of proteomics in cerebrospinal fluid uncovers genetic causes for sex differences in neurodegeneration.
Soomin Song, Anh N Do, Lihua Wang, Gyujin Heo, Jiseon Kwon, Maria Victoria Fernandez

medRxiv· October 2025

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Replication of blood DNA methylomic signatures associated with cerebrospinal fluid levels of YKL-40 and NfL biomarkers.
Timo Kaleck, Rafael Campos-Martin, Amanda Cano, Maria Victoria Fernández, Pamela Martino-Adami

Alzheimers Dement· September 2025

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Protein-based Diagnosis and Analysis of Co-pathologies Across Neurodegenerative Diseases: Large-Scale AI-Boosted CSF and Plasma Classification.
Ying Xu, Daniel Western, Gyujin Heo, Kwangsik Nho, Yen-Ning Huang

medRxiv· July 2025

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Protein-based Diagnosis and Analysis of Co-pathologies Across Neurodegenerative Diseases: Large-Scale AI-Boosted CSF and Plasma Classification.
Ying Xu, Daniel Western, Gyujin Heo, Kwangsik Nho, Yen-Ning Huang

Res Sq· July 2025

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Large-scale plasma proteomic profiling unveils diagnostic biomarkers and pathways for Alzheimer's disease.
Gyujin Heo, Ying Xu, Erming Wang, Muhammad Ali, Hamilton Se-Hwee Oh

Nat Aging· June 2025

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stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.
Jesper Qvist Thomassen, Leonard Hampton, Brittany Ulms, Benjamin Grenier-Boley, Sami Heikkinen, Maria Victoria Fernandez

medRxiv· May 2025

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APOE Haplotype Phasing Using ONT Long-Read Sequencing Reveals Two Common ε3 and ε4 intragenic haplotypes in the Spanish Population.
Pablo García-González, Raquel Puerta, Amanda Cano, Claudia Olivè, Marta Marquié, María Victoria Fernandez

medRxiv· March 2025

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Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.
Ciyang Wang, Chengran Yang, Daniel Western, Muhammad Ali, Yueyao Wang, Maria Victoria Fernandez

Nat Genet· December 2024

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Associations of plasma SMOC1 and soluble IL6RA levels with the progression from mild cognitive impairment to dementia.
Xavier Morató, Raquel Puerta, Amanda Cano, Adelina Orellana, Itziar de Rojas

Brain Behav Immun Health· December 2024

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Head-to-Head Comparison of Aptamer- and Antibody-Based Proteomic Platforms in Human Cerebrospinal Fluid Samples from a Real-World Memory Clinic Cohort.
Raquel Puerta, Amanda Cano, Pablo García-González, Fernando García-Gutiérrez, Maria Capdevila

Int J Mol Sci· December 2024

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Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center.
Maria Victoria Fernandez, Menghan Liu, Aleksandra Beric, Matt Johnson, Arda Cetin

Sci Data· July 2024

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Morphological and molecular characterization of brown-banded broodsacs and metacercariae of Leucochloridium (Trematoda: Leucochloridiidae) parasitizing the semi-slug Omalonyx unguis (Succineidae) in Argentina.
María V Fernández, Ariel A Beltramino, Roberto E Vogler, Monika I Hamann

J Invertebr Pathol· June 2024

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Sex and aging signatures of proteomics in human cerebrospinal fluid identify distinct clusters linked to neurodegeneration.
Dahun Seo, Cheolmin Matthew Lee, Catherine Apio, Gyujin Heo, Jigyasha Timsina, Maria Victoria Fernandez

medRxiv· June 2024

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Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.
Priyanka Gorijala, M Muaaz Aslam, Lam-Ha T Dang, L Xicota, Maria V Fernandez

Alzheimers Dement· February 2024

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Cell-free RNA signatures predict Alzheimer's disease.
Alejandro Cisterna-García, Aleksandra Beric, Muhammad Ali, Jose Adrian Pardo, Hsiang-Han Chen, Maria Victoria Fernandez

iScience· December 2023

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Genetic architecture of plasma Alzheimer disease biomarkers.
Joseph Bradley, Priyanka Gorijala, Suzanne E Schindler, Yun J Sung, Beau Ances, Maria V Fernandez

Hum Mol Genet· July 2023

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Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease.
Muhammad Ali, Derek B Archer, Priyanka Gorijala, Daniel Western, Jigyasha Timsina

Acta Neuropathol Commun· April 2023

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