Mariana Santos

12PUBLICATIONS
52CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Autoimmunity
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Publications (12)

|Jun 26, 2026
Novel Potential Risk Loci for Migraine in the Portuguese Population.

|Dec 08, 2025
Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Joana Damásio, Mariana Santos, Sara Costa

|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore

|Apr 29, 2025
Decoding migraine disorders: parathyroid hormone-related peptide receptors as key genetic drivers.

Andreia Dias, Marta Ferreira, Mariana Santos

|Feb 12, 2025
Movement Disorders in Hereditary Cerebellar Ataxia.

Joana Damásio, Sara Costa, João Moura

|Dec 27, 2024
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Sara Morais, José Leal Loureiro, Eva Brandão

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