Lista de obras - Mathieu Anheim - Dominio Público Uruguay

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy

artículo científico publicado en 2005

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

artículo científico publicado en 2014

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

artículo científico publicado en 2005

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

artículo científico publicado en 2007

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

artículo científico publicado en 2017

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Aggravation aiguë régressive d’une maladie de Charcot-Marie-Tooth de type 1B : la Protéine P0 peut-elle agir comme un auto-antigène ?

scientific article published on 01 September 2004

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

artículo científico publicado en 2011

Anti-Hu-associated brainstem encephalitis with ganglioneuroblastoma in a young adult

artículo científico publicado en 2014

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

artículo científico publicado en 2009

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

artículo científico publicado en 2007

Ataxie avec sensibilité au gluten, mythe ou réalité ?

artículo científico publicado en 2006

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply

artículo científico publicado en 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

artículo científico publicado en 2014

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

artículo científico publicado en 2008

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients with solid organ transplantation: a clinical, neurophysiological and neuropathological study of 4 cases

artículo científico publicado en 2005

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

artículo científico publicado en 2008

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

artículo científico publicado en 2018

Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study

artículo científico publicado en 2020

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

scientific article published on 26 March 2015

Delayed-onset Friedreich's ataxia revisited

artículo científico publicado en 2015

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

artículo científico publicado el 1 de junio de 2012

Early stimulation of DYT1 primary generalized dystonia prevents from its secondary irreversible complications

artículo científico publicado en 2008

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

artículo científico publicado en 2018

Emerging topics in FXTAS.

artículo científico publicado en 2014

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

artículo científico publicado en 2009

Erratum: Emerging topics in FXTAS.

artículo científico publicado en 2015

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

artículo científico publicado en 2010

Exonic deletions of FXN and early-onset Friedreich ataxia

artículo científico publicado en 2012

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

artículo científico publicado en 2016

FXTAS: new insights and the need for revised diagnostic criteria

artículo científico publicado en 2012

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

artículo científico publicado en 2012

Foreword

From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass

artículo científico publicado en 2013

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

artículo científico publicado el 1 de abril de 2013

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

artículo científico publicado en 2015

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

artículo científico publicado en 2013

Improvement in Parkinson disease by subthalamic nucleus stimulation based on electrode placement: effects of reimplantation

artículo científico publicado en 2008

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

artículo científico publicado en 2012

La thérapie tri-génique dans la maladie de Parkinson (ProSavin) : vers une usine à dopamine putaminale ?

artículo científico publicado en 2014

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

artículo científico publicado en 2010

Les ataxies cérébelleuses autosomiques récessives

artículo científico publicado en 2010

Lifetime of Itrel II pulse generators for subthalamic nucleus stimulation in Parkinson's disease

artículo científico publicado en 2007

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

artículo científico publicado en 2015

Low cancer prevalence in polyglutamine expansion diseases

artículo científico publicado en 2017

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

artículo científico publicado en 2016

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

scientific article published on 27 August 2010

Movement disorders in mitochondrial diseases.

artículo científico publicado en 2016

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

artículo científico publicado en 2007

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

artículo científico publicado en 2011

Neuropathie trigéminale motrice pure révélée par un syndrome algo-dysfonctionnel de l’appareil manducateur chez une patiente co-infectée par le VIH et le VHC

artículo científico publicado en 2006

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

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

scientific article published on 27 June 2012

Pathophysiogical and therapeutic progress in Friedreich ataxia

artículo científico

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

article

Peripheral neuropathies associated with hereditary cerebellar ataxias

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

artículo científico publicado en 2015

Polyradiculonévrite aiguë inflammatoire révélant une neuropathie héréditaire avec hypersensibilité à la pression

scientific article published on 01 December 2004

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

artículo científico publicado en 2011

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

scientific article published on 01 April 2020

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

artículo científico publicado en 2014

Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?

artículo científico publicado en 2010

Reponse to J. Finsterer and S. Zarrouk-Mahjoub

artículo científico publicado en 2016

Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia

artículo científico publicado en 2011

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

artículo científico publicado en 2009

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

artículo científico publicado en 2013

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

artículo científico publicado en 2016

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Severe generalized dystonia due to postradiotherapy cerebral calcifications

artículo científico publicado en 2008

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).

artículo científico publicado en 2014

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

artículo científico publicado en 2012

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

artículo científico publicado en 2007

Subthalamic stimulation or subthalamic lesion for Parkinson's disease? A case report

artículo científico publicado en 2015

Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases

artículo científico publicado en 2010

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

artículo científico publicado en 2014

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

scientific article published on 05 May 2020

The autosomal recessive cerebellar ataxias

artículo científico publicado en 2012

The brain and the muscles of genetics

artículo científico publicado en 2015

The impact of rare variants in FUS in essential tremor

artículo científico publicado en 2015

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

artículo científico publicado en 2014

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

artículo científico publicado en 2013

The wide POLG-related spectrum: An integrated view

artículo científico publicado en 2016

Tremor-spectrum in spinocerebellar ataxia type 3.

artículo científico

Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

artículo científico publicado en 2010

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

XPR1 mutations are a rare cause of primary familial brain calcification.

artículo científico publicado en 2016

[Autosomal recessive cerebellar ataxias].

artículo científico publicado en 2009

[Motor and sensory deficit in the limbs]

scientific article published on 01 September 2007

[Sudden onset sensorimotor deficit: first consider stroke]

artículo científico publicado en 2011

Lista de obras de Mathieu Anheim

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

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

Aggravation aiguë régressive d’une maladie de Charcot-Marie-Tooth de type 1B : la Protéine P0 peut-elle agir comme un auto-antigène ?

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

Anti-Hu-associated brainstem encephalitis with ganglioneuroblastoma in a young adult

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

Ataxie avec sensibilité au gluten, mythe ou réalité ?

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients with solid organ transplantation: a clinical, neurophysiological and neuropathological study of 4 cases

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

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

Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

Delayed-onset Friedreich's ataxia revisited

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

Early stimulation of DYT1 primary generalized dystonia prevents from its secondary irreversible complications

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Emerging topics in FXTAS.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Erratum: Emerging topics in FXTAS.

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

Exonic deletions of FXN and early-onset Friedreich ataxia

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

FXTAS: new insights and the need for revised diagnostic criteria

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

Foreword

From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome ⬇️

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

Improvement in Parkinson disease by subthalamic nucleus stimulation based on electrode placement: effects of reimplantation

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

La thérapie tri-génique dans la maladie de Parkinson (ProSavin) : vers une usine à dopamine putaminale ?

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Les ataxies cérébelleuses autosomiques récessives

Lifetime of Itrel II pulse generators for subthalamic nucleus stimulation in Parkinson's disease

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Low cancer prevalence in polyglutamine expansion diseases

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

Movement disorders in mitochondrial diseases.

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

Neuropathie trigéminale motrice pure révélée par un syndrome algo-dysfonctionnel de l’appareil manducateur chez une patiente co-infectée par le VIH et le VHC

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

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

Pathophysiogical and therapeutic progress in Friedreich ataxia

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

Peripheral neuropathies associated with hereditary cerebellar ataxias

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

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

Polyradiculonévrite aiguë inflammatoire révélant une neuropathie héréditaire avec hypersensibilité à la pression

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice

Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?

Reponse to J. Finsterer and S. Zarrouk-Mahjoub

Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

SYNE1 mutations in autosomal recessive cerebellar ataxia

Severe generalized dystonia due to postradiotherapy cerebral calcifications

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

Subthalamic stimulation or subthalamic lesion for Parkinson's disease? A case report

Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment