Montserrat Milà
Featured publications
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Fragile X syndrome: an overview and update of the FMR1 gene.
Authors:Reference: CLINICAL GENETICS. -
Clinical implication of FMR1 intermediate alleles in a Spanish population.
Authors:Reference: CLINICAL GENETICS. -
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers
Authors:Reference: CLINICAL GENETICS. -
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS
Authors:Reference: MOLECULAR NEUROBIOLOGY. -
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
Authors:Reference: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. -
Pharmacogenetic modulation of STEP improves motor and cognitive function in a mouse model of Huntington's disease.
Authors:Reference: NEUROBIOLOGY OF DISEASE 2018. -
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington’s Disease Patients
Authors:Reference: Molecular Neurobiology 2017.
Featured Projects
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Innovación tecnológica de alto rendimiento para el diagnóstico molecular de trastornos genéticos clínica y molecularmente heterogéneos (Techgene): aplicación al retraso mental
Duration: 01/01/2010