Neuroscience and Disease

Neurobiology of Mental Disorders


Rett syndrome

Down syndrome



Research lines

NT3-TrkC signaling in the regulation of fear memories

MeCP2 and early-life stress interaction effects on anxiety


We are centered in understanding the neural substrates and molecular mechanisms underlying emotion (fear and anxiety), cognition (learning and memory) and how emotion-cognition dysfunction contributes to the development of psychiatric disorders. To address these questions, we use Human Genetics and Mouse Models of Disease. We have a strong expertise in rodent behavior, we combine genetic and pharmacological tools with stereotactic interventions and we use molecular, cellular and genetic readouts.


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Information about journal articles, updated at 24-09-2023, from platform CIÊNCIAVITAE.

TrkC Intracellular Signalling in the Brain Fear Network During the Formation of a Contextual Fear Memory

Francisca Silva; Gianluca Masella; Maria Francisca Madeira; Carlos B. Duarte; Mónica Santos, 2023. Molecular Neurobiology. 2023. . 10.1007/s12035-023-03292-0 . Molecular Neurobiology

MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice

María Abellán-Álvaro; Oliver Stork; Carmen Agustín-Pavón; Mónica Santos, 2021. Journal of Neurodevelopmental Disorders. 2021. . 10.1186/s11689-021-09409-7 . Journal of Neurodevelopmental Disorders

Male-specific features are reduced in Mecp2-null mice: analyses of vasopressinergic innervation, pheromone production and social behaviour

Elena Martínez-Rodríguez; Ana Martín-Sánchez; Emre Kul; Aparajita Bose; Francisco José Martínez-Martínez; Oliver Stork; Fernando Martínez-García; et al, 2020. Brain Structure and Function. 2219 - 2238. 7. 225. 2020. . 10.1007/s00429-020-02122-6 . Brain Structure and Function

Lack of MeCP2 leads to region-specific increase of doublecortin in the olfactory system

Martínez-Rodríguez, Elena; Martín-Sánchez, Ana; Coviello, Simona; Foiani, Cristina; Kul, Emre; Stork, Oliver; Martínez-García, Fernando; et al, 2019. Brain Structure and Function. 1647 - 1658. 4. 224. 2019. . 10.1007/s00429-019-01860-6 . published Brain Structure and Function

Erratum: Correction: Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy (PLoS genetics (2017) 13 3 (e1006684))

Altmüller, F.; Pothula, S.; Annamneedi, A.; Nakhaei-Rad, S.; Montenegro-Venegas, C.; Pina-Fernández, E.; Marini, C.; et al, 2017. PLoS genetics. e1006843 - e1006843. 6. 13. 2017. . 10.1371/journal.pgen.1006843 . PLoS genetics

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

Castro, Hoanna; Kul, Emre; Buijsen, Ronald A.M.; Severijnen, Lies-Anne W.F.M.; Willemsen, Rob; Hukema, Renate K.; Stork, Oliver; Santos, Mónica, 2017. Human Molecular Genetics. 2133 - 2145. 11. 26. 2017. . 10.1093/hmg/ddx108 . published Human Molecular Genetics

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.

Altmüller F; Pothula S; Annamneedi A; Nakhaei-Rad S; Montenegro-Venegas C; Pina-Fernández E; Marini C; et al, 2017. PLoS genetics. 2017. . 10.1371/journal.pgen.1006684 . PLoS genetics

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

Foote, Molly; Arque, Gloria; Berman, Robert F.; Santos, Mónica, 2016. The Cerebellum. 611 - 622. 5. 15. 2016. . 10.1007/s12311-016-0797-6 . published The Cerebellum

Infralimbic Neurotrophin-3 Infusion Rescues Fear Extinction Impairment in a Mouse Model of Pathological Fear

D'Amico, Davide; Gener, Thomas; de Lagrán, Maria Martínez; Sanchez-Vives, Maria V; Santos, Mónica; Dierssen, Mara, 2016. Neuropsychopharmacology. 462 - 472. 2. 42. 2016. . 10.1038/npp.2016.154 . published Neuropsychopharmacology

From neural to genetic substrates of panic disorder: Insights from human and mouse studies

Santos, Mónica; D’Amico, Davide; Dierssen, Mara, 2015. European Journal of Pharmacology. 127 - 141. 759. 2015. . 10.1016/j.ejphar.2015.03.039 . published European Journal of Pharmacology

Genome-wide miR-155 and miR-802 target gene identification in the hippocampus of Ts65Dn Down syndrome mouse model by miRNA sponges

Bofill-De Ros, Xavier; Santos, Mónica; Vila-Casadesús, Maria; Villanueva, Eneko; Andreu, Nuria; Dierssen, Mara; Fillat, Cristina, 2015. BMC Genomics. 1. 16. 2015. . 10.1186/s12864-015-2160-6 . published BMC Genomics

Identification of key genes involved in Down syndrome pathogenesis by gene therapy,Identificación de genes clave implicados en el síndrome de Down mediante terapia génica

Fillat, C.; Bofill-De Ros, X.; Santos, M.; Martín, E.D.; Andreu, N.; Villanueva, E.; D'Amico, D.; Dierssen, M.; Altafaj, X., 2014. SD Revista Medica Internacional sobre el Sindrome de Down. 21 - 28. 2. 18. 2014. . 10.1016/S1138-2074(14)70049-1 . published SD Revista Medica Internacional sobre el Sindrome de Down

Hippocampal Hyperexcitability Underlies Enhanced Fear Memories in TgNTRK3, a Panic Disorder Mouse Model

Santos, M.; D'Amico, D.; Spadoni, O.; Amador-Arjona, A.; Stork, O.; Dierssen, M., 2013. Journal of Neuroscience. 15259 - 15271. 38. 33. 2013. . 10.1523/jneurosci.2161-13.2013 . published Journal of Neuroscience

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

Temudo, Teresa; Santos, Mónica; Ramos, Elisabete; Dias, Karin; Vieira, José Pedro; Moreira, Ana; Calado, Eulália; et al, 2011. Brain and Development. 69 - 76. 1. 33. 2011. . 10.1016/j.braindev.2010.01.004 . published Brain and Development

Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome

Santos, M.; Summavielle, T.; Teixeira-Castro, A.; Silva-Fernandes, A.; Duarte-Silva, S.; Marques, F.; Martins, L.; et al, 2010. Neuroscience. 453 - 467. 2. 170. 2010. . 10.1016/j.neuroscience.2010.07.010 . published Neuroscience

Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

Santos, Mónica; Temudo, Teresa; Kay, Teresa; Carrilho, Inês; Medeira, Ana; Cabral, Helena; Gomes, Roseli; et al, 2009. Journal of Child Neurology. 49 - 55. 1. 24. 2009. . 10.1177/0883073808321043 . published Journal of Child Neurology

The C677T Polymorphism inMTHFRIs Not Associated with Migraine in Portugal

Ferro, Anabela; Castro, Maria-José; Lemos, Carolina; Santos, Mónica; Sousa, Alda; Pereira-Monteiro, José; Sequeiros, Jorge; Maciel, Patrícia, 2008. Disease Markers. 107 - 113. 2. 25. 2008. . 10.1155/2008/178679 . published Disease Markers

Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

Santos, Mónica; Yan, Jin; Temudo, Teresa; Oliveira, Guiomar; Vieira, José Pedro; Fen, Jinong; Sommer, Steve; Maciel, Patrícia, 2008. Disease Markers. 319 - 324. 6. 24. 2008. . 10.1155/2008/738401 . published Disease Markers

T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population

Carvalho, A.; Santos, M.; Maciel, P.; Rodrigues, F., 2008. Multiple Sclerosis Journal. 550 - 552. 4. 14. 2008. . 10.1177/1352458507084594 . published Multiple Sclerosis Journal

Corrigendum to "Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans" [J. Neuroimmunol. 179 (2006) 108-116] (DOI:10.1016/j.jneuroim.2006.06.003)

Ban, M.; Booth, D.; Heard, R.; Stewart, G.; Goris, A.; Vandenbroeck, K.; Dubois, B.; et al, 2007. Journal of Neuroimmunology. 175 - 176. 1-2. 189. 2007. . 10.1016/j.jneuroim.2007.08.003 . Journal of Neuroimmunology

Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations

Temudo, T.; Oliveira, P.; Santos, M.; Dias, K.; Vieira, J.; Moreira, A.; Calado, E.; et al, 2007. Neurology. 1183 - 1187. 15. 68. 2007. . 10.1212/01.wnl.0000259086.34769.78 . published Neurology

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; et al, 2007. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 475 - 483. 4. 144B. 2007. . 10.1002/ajmg.b.30490 . published American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

Venâncio, Margarida; Santos, Mónica; Pereira, Susana Aires; Maciel, Patrícia; Saraiva, Jorge M, 2007. European Journal of Human Genetics. 902 - 904. 8. 15. 2007. . 10.1038/sj.ejhg.5201835 . published European Journal of Human Genetics

Evidence for abnormal early development in a mouse model of Rett syndrome.

Santos M; Silva-Fernandes A; Oliveira P; Sousa N; Maciel P; Santos, M.; Silva-Fernandes, A.; et al, 2007. Genes, Brain and Behavior. 277 - 286. 3. 6. 2007. . 10.1111/j.1601-183X.2006.00258.x . published Genes, Brain and Behavior

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

The GAMES Collaborative Group, 2006. Journal of Neuroimmunology. 108 - 116. 1-2. 179. 2006. . 10.1016/j.jneuroim.2006.06.003 . published Journal of Neuroimmunology

Chromatin remodeling and neuronal function: exciting links

Santos, M.; Coelho, P. A.; Maciel, P., 2006. Genes, Brain and Behavior. 80 - 91. 5. 2006. . 10.1111/j.1601-183x.2006.00227.x . published Genes, Brain and Behavior

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: Some answers

Burwick, R. M.; Ramsay, P. P.; Haines, J. L.; Hauser, S. L.; Oksenberg, J. R.; Pericak-Vance, M. A.; Schmidt, S.; et al, 2006. Neurology. 1373 - 1383. 9. 66. 2006. . 10.1212/01.wnl.0000210531.19498.3f . published Neurology

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)

Shi, Jinxiu; Shibayama, Akane; Liu, Qiang; Nguyen, Vu Q.; Feng, Jinong; Santos, Monica; Temudo, Teresa; Maciel, Patricia; Sommer, Steve S., 2005. Human Mutation. 505 - 505. 5. 25. 2005. . 10.1002/humu.9338 . published Human Mutation

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

Santos, Mónica; do Carmo Costa, Maria; Rio, Maria Edite; Sá, Maria José; Monteiro, Marta; Valença, Angela; Sá, Alfredo; et al, 2004. Multiple Sclerosis Journal. 153 - 157. 2. 10. 2004. . 10.1191/1352458504ms998oa . published Multiple Sclerosis Journal

A whole genome screen for association with multiple sclerosis in Portuguese patients

Santos, M.; Pinto-Basto, J.; Rio, M.E.; Sá, M.J.; Valença, A.; Sá, A.; Dinis, J.; et al, 2003. Journal of Neuroimmunology. 112 - 115. 1-2. 143. 2003. . 10.1016/j.jneuroim.2003.08.023 . published Journal of Neuroimmunology



CGC Genetics award Professor Doutor Amândio Tavares (3rd position). Clinical and Genetic Study of Rett Syndrome in Portugal


Premi Biennal d’Investigació Ramon Trias Fargas. Aprenent sobre la síndrome de Down de la mà dels vírus


Marie Sklodowska-Curie Action Seal of Excellence, European Commission. NT3/TrkC signaling in the regulation of fear memories (#889234),

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