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

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

(2012) Perrine Charles   ARCHIVES OF NEUROLOGY

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

(2012) C. Tzoulis et al.   BRAIN

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

(2011) Alessandra Terracciano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

(2010) Luis Felipe Mendonça Siqueira   JOURNAL OF NEUROLOGY

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

(2010) Mike Gerards et al.   MITOCHONDRION

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

(2009) M. Anheim et al.   BRAIN

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

(2009) M. Anheim et al.   NEUROGENETICS

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Mathieu Anheim et al.   ARCHIVES OF NEUROLOGY

Clinical picture of EPM1-Unverricht-Lundborg disease

(2008) Reetta Kälviäinen et al.   EPILEPSIA