Montserrat Milà

mmila@clinic.cat

Publicaciones destacadas

Fragile X syndrome: an overview and update of the FMR1 gene.

Autores:
Mila M; Alvarez-Mora MI; Madrigal I; Rodriguez-Revenga L;

Referencia: CLINICAL GENETICS.
Clinical implication of FMR1 intermediate alleles in a Spanish population.

Autores:
Alvarez-Mora MI; Madrigal I; Martinez F; Tejada MI; Izquierdo-Alvarez S;

(...)

Villate O; Rodríguez-Santiago B; Pérez Jurado LA; Rodriguez-Revenga L; Milà M.

Referencia: CLINICAL GENETICS.
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers

Autores:
López-Mourelo O; Mur E; Madrigal I; Alvarez-Mora MI; Gómez-Ansón B;

Pagonabarraga J; Rodriguez-Revenga L; Milà M .

Referencia: CLINICAL GENETICS.
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

Autores:
Alvarez-Mora M.; Rodriguez-Revenga L.; Madrigal I.; Guitart-Mampel M.; Garrabou G.;

Milà M..

Referencia: MOLECULAR NEUROBIOLOGY.
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

Autores:
Nolin SL; Glicksman A; Tortora N; Allen E; Macpherson J;

(...)

Vianna-Morgante AM; Sherman SL; Dobkin C; Latham GJ; Hadd AG.

Referencia: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A.
Pharmacogenetic modulation of STEP improves motor and cognitive function in a mouse model of Huntington's disease.

Autores:
García-Forn M; Martínez-Torres S; García-Díaz Barriga G; Alberch J; Milà M;

Azkona G; Pérez-Navarro E.

Referencia: NEUROBIOLOGY OF DISEASE 2018.
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington’s Disease Patients

Autores:
Tell-Marti G.; Puig-Butille J.; Gimenez-Xavier P.; Segu-Roig A.; Potrony M.;

(...)

Millán J.; Trujillo-Tiebas M.; Ramos-Arroyo M.; Milà M.; Puig S..

Referencia: Molecular Neurobiology 2017.

Proyectos destacados

Innovación tecnológica de alto rendimiento para el diagnóstico molecular de trastornos genéticos clínica y molecularmente heterogéneos (Techgene): aplicación al retraso mental

Duración: 01/01/2010

Montserrat Milà

Publicaciones destacadas

Fragile X syndrome: an overview and update of the FMR1 gene.

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Social anxiety and autism spectrum traits among adult FMR1 premutation carriers

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

Pharmacogenetic modulation of STEP improves motor and cognitive function in a mouse model of Huntington's disease.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington’s Disease Patients

Proyectos destacados

Innovación tecnológica de alto rendimiento para el diagnóstico molecular de trastornos genéticos clínica y molecularmente heterogéneos (Techgene): aplicación al retraso mental

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