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

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

(2015) Julie Pilliod et al.   ANNALS OF NEUROLOGY

Xeroderma pigmentosum complementation group F: Report of a case and review of Japanese patients

(2015) Yukari Tofuku et al.   JOURNAL OF DERMATOLOGY

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

(2015) M. J. Keogh et al.   JOURNAL OF NEUROLOGY

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

(2014) Metodi Dimitrov Metodiev et al.   JOURNAL OF MEDICAL GENETICS

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

(2014) A. Meneret et al.   NEUROLOGY

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing

(2014) M. A. Lines et al.   NEUROLOGY

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel 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

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

(2013) Sarah L. Sawyer et al.   HUMAN MUTATION

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

(2013) Justyna Jezierska et al.   JOURNAL OF NEUROLOGY

WDR81 Is Necessary for Purkinje and Photoreceptor Cell Survival

(2013) M. Traka et al.   JOURNAL OF NEUROSCIENCE

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

(2013) Hugh J McMillan et al.   Orphanet Journal of Rare Diseases

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

(2012) Ronen Spiegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

lobSTR: A short tandem repeat profiler for personal genomes

(2012) Melissa Gymrek et al.   GENOME RESEARCH

The Autosomal Recessive Cerebellar Ataxias

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

Neuro-ophthalmologic findings in humans with quadrupedal locomotion

(2012) Ozge Sarac et al.   OPHTHALMIC GENETICS

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

(2011) S. Gulsuner et al.   GENOME RESEARCH

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency

(2011) Johannes A. Mayr et al.   MOLECULAR GENETICS AND METABOLISM

Xeroderma pigmentosum

(2011) Alan R Lehmann et al.   Orphanet Journal of Rare Diseases

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

(2010) Georgy Bakalkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B

(2010) Leiah M. Luoma et al.   HUMAN MUTATION

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

(2010) Marjan Huizing et al.   MOLECULAR GENETICS AND METABOLISM

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

Sporadic ataxia with adult onset: classification and diagnostic criteria

(2009) Thomas Klockgether   LANCET NEUROLOGY

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

(2009) Prasanth Potluri et al.   MOLECULAR GENETICS AND METABOLISM

Clinical spectrum of ataxia-telangiectasia in adulthood

(2009) M.M.M. Verhagen et al.   NEUROLOGY

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

(2008) Mathieu Anheim et al.   ARCHIVES OF NEUROLOGY

Neurological symptoms and natural course of xeroderma pigmentosum

(2008) A. Anttinen et al.   BRAIN

Spinocerebellar Ataxia Type 23: A Genetic Update

(2008) Dineke S. Verbeek   CEREBELLUM

Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2)

(2008) Larissa Arning et al.   NEUROGENETICS