List of works - Emmanuel Roze

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

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

scientific article

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

Defective cerebellar control of cortical plasticity in writer's cramp

scientific article published on July 2013

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

scientific article published on 11 July 2016

Haloperidol protects striatal neurons from dysfunction induced by mutated huntingtin in vivo

scientific article

Intrinsic signature of essential tremor in the cerebello-frontal network

scientific article published on 26 June 2015

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

scientific article

Mutations in the netrin-1 gene cause congenital mirror movements

scientific article

Orthostatic tremor: a cerebellar pathology?

scientific article

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

scientific article

Phenotypes, genotypes, and the management of paroxysmal movement disorders

scientific article published on 30 March 2018

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Quantitative gene expression profiling of mouse brain regions reveals differential transcripts conserved in human and affected in disease models

scientific article published on 5 February 2008

RAD51 deficiency disrupts the corticospinal lateralization of motor control

scientific article published on 20 September 2013

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

scientific article published on 16 November 2018

The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias

scientific article

List of works by Emmanuel Roze

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

Clinical and genetic characteristics of late-onset Huntington's disease

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Defective cerebellar control of cortical plasticity in writer's cramp

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

Haloperidol protects striatal neurons from dysfunction induced by mutated huntingtin in vivo

Intrinsic signature of essential tremor in the cerebello-frontal network

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

Mutations in the netrin-1 gene cause congenital mirror movements

Orthostatic tremor: a cerebellar pathology?

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Phenotypes, genotypes, and the management of paroxysmal movement disorders

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Quantitative gene expression profiling of mouse brain regions reveals differential transcripts conserved in human and affected in disease models

RAD51 deficiency disrupts the corticospinal lateralization of motor control

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias