Author

Manel Fernández

Biomedical Research Networking Center on Neurodegenerative DiseasesORCID 0000-0002-8558-9920Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Research Focus:GWAS / association mapping· 2 Assay:whole-genome sequencing· 2 Assay:clinical cohort / trial· 1 Assay:DNA methylation· 1 Research Focus:eQTL / molecular QTL mapping· 1

Frequent Co-Authors

Ana CámaraiD· 4 shared Mario EzquerraiD· 4 shared Rubén Fernández‐SantiagoiD· 4 shared Yaroslau ComptaiD· 4 shared Andrew SingletoniD· 3 shared Astrid Daniela Adarmes-GómeziD· 3 shared Cici Feliz· 3 shared Cornelis BlauwendraatiD· 3 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersNeuroscience

Ana CámaraORCID

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4 papers

Recent·Most cited

Phospho-signalling deregulation of the mTOR pathway in fibroblasts from LRRK2 Parkinson s patients

Rodolfo Alejandro, Joaquín Fernández‐Irigoyen, Pares Guillem, Adriana Cortés, Enrique Santamaría, Manel Fernández, Esteban Muñoz, Almudena Sánchez‐Gómez, Cèlia Painous, Ana Cámara, Francesc Valldeoriola, Yaroslau Compta, Eduardo Tolosa, Alícia Garrido, Marı́a José Martı́, , Mario Ezquerra

This study identifies mTOR pathway deregulation in fibroblasts from LRRK2 Parkinson's patients through proteomic and phospho-proteomic analysis.

bioRxiv · Dec 9, 2025 · PreprintNeuroscience

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

Zhongbo Chen, David Zhang, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Sonia García-Ruiz, Karishma D’Sa, Aine Fairbrother-Browne, Jana Vandrovcová, Alastair John Noyce, Rauan B. Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela M. X. Tan, Huw R. Morris, Hélène Plun‐Favreau, , Rubén Fernández‐Santiago

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

Nature Communications · Apr 6, 2021Peer-reviewedNeuroscience

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Mike A. Nalls, Cornelis Blauwendraat, Costanza Ludovica Vallerga, Karl Heilbron, Sara Bandrés‐Ciga, Diana Chang, Manuela M. X. Tan, Demis A. Kia, Alastair John Noyce, Angli Xue, José Brás, Emily Young, Rainer von Coelln, Javier Simón-Sánchez, Claudia Schulte, , Ciara García

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

The Lancet Neurology · Nov 6, 2019Peer-reviewedGenetics✦ In-depth digest

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sara Bandrés‐Ciga, Sarah Ahmed, Marya S. Sabir, Cornelis Blauwendraat, Astrid Daniela Adarmes-Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pilar Gómez‐Garre, Silvia Jesús, Miguel Ángel Labrador‐Espinosa, Daniel Macías, Carlota Méndez‐del‐Barrio, , Andrew Singleton

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

Movement Disorders · Oct 29, 2019Peer-reviewedNeuroscience