Lista de obras -

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

artículo científico publicado en 2015

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

artículo científico publicado en 2015

Congenital Mirror Movements

artículo científico publicado en 1993

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

artículo científico publicado en 2016

Congenital mirror movements caused by a mutation in the DCC gene.

artículo científico publicado en 2015

Congenital mirror movements: from piano player to opera singer.

artículo científico publicado en 2015

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

artículo científico publicado en 2014

Congenital mirror movements: no mutation in DNAL4 in 17 index cases

artículo científico publicado en 2014

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

artículo científico publicado en 2009

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

artículo científico publicado en 2017

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

artículo científico publicado en 2009

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

artículo científico publicado en 2011

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

artículo científico publicado en 2011

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

artículo científico publicado en 2010

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in the netrin-1 gene cause congenital mirror movements

artículo científico publicado en 2017

Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline. ⬇️

artículo científico publicado en 2017

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

artículo científico publicado en 2011

The supplementary motor area modulates interhemispheric interactions during movement preparation

scientific article published on 17 January 2019

Lista de obras de

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Congenital Mirror Movements

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Congenital mirror movements caused by a mutation in the DCC gene.

Congenital mirror movements: from piano player to opera singer.

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

Congenital mirror movements: no mutation in DNAL4 in 17 index cases

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Mutations in the netrin-1 gene cause congenital mirror movements

Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline. ⬇️

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

The supplementary motor area modulates interhemispheric interactions during movement preparation