Lista de obras -

'The Move', an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students' and teachers' perceptions

artículo científico publicado en 2016

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

artículo científico publicado en 2017

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia

artículo científico publicado en 2016

A recent dyspnea on exertion

artículo científico publicado en 2008

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy

artículo científico publicado en 2012

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

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

artículo científico publicado en 2016

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

artículo científico publicado en 2015

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

artículo científico publicado en 2018

Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign.

artículo científico publicado en 2013

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

artículo científico publicado en 2017

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: a clue to understanding bimanual motor control

artículo científico publicado en 2011

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

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

artículo científico publicado en 2017

First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation

scientific article published on 01 September 2018

GLUT1 deficiency syndrome: an update

artículo científico publicado en 2013

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation ⬇️

artículo científico publicado el 23 de septiembre de 2011

Miming neurological syndromes improves medical student's long-term retention and delayed recall of neurology

artículo científico publicado en 2018

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

PRRT2 mutations and paroxysmal disorders.

artículo científico

PRRT2 mutations cause hemiplegic migraine

scientific article published on 17 October 2012

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

scientific article published on 27 June 2012

Paroxysmal movement disorders: An update.

artículo científico publicado en 2016

RAD51 deficiency disrupts the corticospinal lateralization of motor control

artículo científico publicado en 2013

RAD51 haploinsufficiency causes congenital mirror movements in humans

artículo científico publicado en 2012

Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease

article

The multiple faces of the ATP1A3-related dystonic movement disorder.

artículo científico publicado en 2013

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

artículo científico publicado en 2014

[A recurrent diarrhea]

scientific article published on 24 June 2008

[Early complications after insertion of pacemaker].

artículo científico publicado en 2008

Lista de obras de

'The Move', an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students' and teachers' perceptions

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia

A recent dyspnea on exertion

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

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

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

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: a clue to understanding bimanual motor control

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

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

First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation

GLUT1 deficiency syndrome: an update

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation ⬇️

Miming neurological syndromes improves medical student's long-term retention and delayed recall of neurology

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. ⬇️

PRRT2 mutations and paroxysmal disorders.

PRRT2 mutations cause hemiplegic migraine

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

Paroxysmal movement disorders: An update.

RAD51 deficiency disrupts the corticospinal lateralization of motor control

RAD51 haploinsufficiency causes congenital mirror movements in humans

Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease

The multiple faces of the ATP1A3-related dystonic movement disorder.

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

[A recurrent diarrhea]

[Early complications after insertion of pacemaker].