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

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

(2016) Matthis Synofzik et al.   BRAIN

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

(2015) Wahiba Hamza et al.   BMC Medical Genetics

VaRank: a simple and powerful tool for ranking genetic variants

(2015) Véronique Geoffroy et al.   PeerJ

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

(2014) A. Meneret et al.   NEUROLOGY

Étude rétrospective multicentrique de 15 cas adultes de xanthomatose cérébrotendineuse : aspects cliniques et paracliniques typiques et atypiques

(2014) C. Lionnet et al.   REVUE NEUROLOGIQUE

Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations

(2014) Mathilde Renaud et al.   JAMA Neurology

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

(2013) Y.-T. Liu et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2013) Cyril Mignot et al.   Orphanet Journal of Rare Diseases

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

(2013) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

The Autosomal Recessive Cerebellar Ataxias

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

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) D. H’mida-Ben Brahim et al.   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

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