Alberto Fernandez-Jaen

17PUBLICATIONS
124CO-AUTHORS
NeurogeneticsNeural engineeringAutonomic nervous systemNeurology and neuromuscular diseasesNonlinear optics and spectroscopy
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Publications (17)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Mar 21, 2026
Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.

Seungjoon Kim, Hyeonho Kim, Javier Porta Pelayo

|Mar 14, 2026
Perinatal liver sympathetic innervation governs body size.

Veronica Bobo-Jimenez, Silvia Gomila, Rebeca Lapresa

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Jun 30, 2025
Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development.

Seungjoon Kim, Hyeonho Kim, Javier Pelayo

|Dec 11, 2023
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.

Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín

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