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Authors whose works are in public domain in at least one jurisdiction

List of works by Mathieu Anheim

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

scientific article published in April 2005

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

scientific article published on 11 August 2014

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

scientific article published in April 2005

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

scientific article

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

scientific article published on 21 April 2017

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

scientific article

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

scientific article

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

scientific article published on 10 November 2011

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

scientific article published on 7 August 2014

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

scientific article published on 20 August 2009

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

scientific article published on December 2007

Ataxie avec sensibilité au gluten, mythe ou réalité ?

scientific article published on 01 February 2006

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

scientific article published in February 2015

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

scientific article published in October 2014

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

scientific article

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

scientific article

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

scientific article published on 01 July 2008

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

scientific article

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

scientific article published on 07 February 2020

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

scientific article published on 26 March 2015

Delayed-onset Friedreich's ataxia revisited

scientific article published on 21 September 2015

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

scientific article published on June 1, 2012

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

scientific article published in November 2008

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

scientific article published on 26 February 2018

Emerging topics in FXTAS.

scientific article

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

scientific article published on 14 May 2009

Erratum: Emerging topics in FXTAS.

scientific article published on 8 April 2015

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

scientific article published on 10 September 2010

Exonic deletions of FXN and early-onset Friedreich ataxia

scientific article published in July 2012

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

scientific article published on 26 May 2016

FXTAS: new insights and the need for revised diagnostic criteria

scientific article published on 17 October 2012

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

scientific article published on 01 April 2012

Foreword

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

scientific article published on 31 January 2013

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

scientific article published on April 1, 2013

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

scientific article published on 16 December 2015

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

scientific article published in November 2013

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

scientific article

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

scientific article published in June 2012

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

scientific article published on 01 February 2014

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

scientific article published on 14 October 2010

Les ataxies cérébelleuses autosomiques récessives

scientific article published on 17 November 2010

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

scientific article published in December 2007

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

scientific article published on 17 June 2015

Low cancer prevalence in polyglutamine expansion diseases

scientific article published on 15 February 2017

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

scientific article

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

scientific article published on 27 August 2010

Motor and sensory deficit in the limbs

scientific article published on 01 September 2007

Movement disorders in mitochondrial diseases.

scientific article

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

scientific article published on 13 December 2007

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

scientific article published on January 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

scientific article published on 01 January 2006

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

scientific article published on 20 August 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

scientific article published on 29 April 2014

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

article

Peripheral neuropathies associated with hereditary cerebellar ataxias

scientific article

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

scientific article published on 28 October 2013

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

scientific article published on 07 April 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

scientific article published in February 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

scientific article published on 2 December 2014

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

scientific article

Reponse to J. Finsterer and S. Zarrouk-Mahjoub

scientific article published on 19 October 2016

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

scientific article published on 29 September 2011

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

scientific article

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

scientific article published on 24 December 2013

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

scientific article published on 17 April 2016

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Severe generalized dystonia due to postradiotherapy cerebral calcifications

scientific article published in April 2008

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

scientific article published on 9 December 2014

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

scientific article

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

scientific article published in January 2007

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

scientific article published on 20 October 2015

Sudden onset sensorimotor deficit: first consider stroke

scientific article published on 01 October 2011

Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases

scientific article published on 30 March 2010

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

scientific article

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

scientific article

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

scientific article

The brain and the muscles of genetics

scientific article published on 29 May 2015

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

scientific article published on 13 August 2014

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

scientific article

The wide POLG-related spectrum: An integrated view

scientific article published on 29 June 2016

Tremor-spectrum in spinocerebellar ataxia type 3.

scientific article published on 17 May 2012

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

scientific article published on 01 September 2010

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

scientific article published on 3 May 2016

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

scientific article

[Autosomal recessive cerebellar ataxias].

scientific article

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