• A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families
• A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
• A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation
• A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol
• A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
• A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study
• A pathogenetic classification of hereditary ataxias: is the time ripe?
• A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
• Accuracy of clinical diagnostic criteria for Friedreich's ataxia
• An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study
• Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
• Anticipation of onset age in familial Parkinson's disease without SCA gene mutations
• Associative learning in patients with cerebellar ataxia
• Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats
• ATM Dependent Silencing Links Nucleolar Chromatin Reorganization to DNA Damage Recognition
• Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families
• Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom
• Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group
• Brain susceptibility imaging provides valuable <em>in vivo</em> insights into cerebellar diseases, but biological interpretations remain elusive
• Central Nervous System Therapeutic Targets in Friedreich Ataxia
• Cerebellar presentation of multiple system atrophy
• Cerebral abnormalities in Friedreich ataxia: A review
• Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study
• Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study
• Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7
• Characterization of on-target adverse events caused by TRK inhibitor therapy
• Classifications of hereditary ataxias. A critical overview
• Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias
• Clinical features and classification of inherited ataxias
• Cognitive phenotype in ataxia-telangiectasia
• Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
• Constricted migration increases DNA damage and independently represses cell cycle
• Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
• Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
• Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis
• Differential diagnosis of Friedreich ataxia
• Discordance for late-onset degenerative ataxia in monozygous triplets
• Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
• Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation
• Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models
• Friedreich ataxia--diagnosis after a decade. Differential diagnosis of inherited spinocerebellar ataxias
• Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report
• Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study
• Functional MRI Studies in Friedreich's Ataxia: A Systematic Review
• Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q
• Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
• Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia
• Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
• Heart disease in Friedreich's ataxia
• Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
• Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability
• Hereditary ataxias and paraplegias: a clinicogenetic review
• Influence of vision on upper limb reaching movements in patients with cerebellar ataxia
• Inherited ataxias
• Ionizing radiation activates AMP-activated kinase (AMPK): a target for radiosensitization of human cancer cells
• Late onset recessive ataxia with Friedreich's disease phenotype
• Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature
• Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
• Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia
• Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia
• Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA
• Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA
• Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study
• Magnetic resonance imaging in degenerative ataxic disorders
• Malignant cerebellar ganglioglioma
• Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings
• Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype
• Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy
• Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
• Molecular genetics of the hereditary ataxias
• Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies
• MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration
• MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
• MRE11 promotes AKT phosphorylation in direct response to DNA double-strand breaks
• Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study
• Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study
• Nigrostriatal function in vitamin E deficiency: clinical, experimental, and positron emission tomographic studies
• Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
• Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
• Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders
• Persistent functional deficit in multiple sclerosis and autosomal dominant cerebellar ataxia is associated with axon loss
• Prenatal diagnosis of mitochondrial DNA8993 T----G disease
• Progressive myoclonic ataxia (the Ramsay Hunt syndrome)
• Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
• Protein-protein interactions occur between p53 phosphoforms and ATM and 53BP1 at sites of exogenous DNA damage
• Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
• Safety and efficacy of the MDR inhibitor Incel (biricodar, VX-710) in combination with mitoxantrone and prednisone in hormone-refractory prostate cancer
• Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan
• Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias
• Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
• Stereotactic radiation techniques in the treatment of acoustic schwannomas
• The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease
• The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus
• The mitochondrial DNA transfer RNA(Lys)A--&gt;G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
• The Neuropathology of MIRAGE Syndrome
• The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
• The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival
• The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
• Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study
• Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia