• A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
• A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
• A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice
• A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging
• A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat
• A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report
• A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
• A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations
• A Japanese case of SCA14 with the Gly128Asp mutation
• A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study
• A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
• A new dominantly inherited pure cerebellar ataxia, SCA 30
• A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14
• A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline
• An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
• Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
• Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)
• Ataxia-telangiectasia with rare phenotype and unusual pedigree
• Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
• Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
• Autosomal dominant cerebellar ataxias: a systematic review of clinical features
• Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
• Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes
• Central auditory processing in patients with spinocerebellar ataxia
• Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia
• Cerebellar ataxias: an update
• Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology
• Clinical and genetic analysis of spinocerebellar ataxia type 11
• Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan
• Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia
• Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan
• Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families
• Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31
• Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
• Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan)
• Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
• Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm
• Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)
• De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
• Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31
• DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
• 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
• FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion
• Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
• Genetics of hereditary spastic paraplegias
• Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
• Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?
• Heterozygous <em>KIF1A</em> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
• Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
• Identifying SYNE1 ataxia and extending the mutational spectrum in Korea
• Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions
• Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia
• Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
• Long-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report
• Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
• Molecular genetic approach to spinocerebellar ataxias
• Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation
• Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms
• Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
• Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
• Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
• Neuroradiological Findings in the Spinocerebellar Ataxias
• Novel <em>KCND3</em> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
• Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia
• Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
• Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
• Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders
• Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia
• Postural responses to multidirectional stance perturbations in cerebellar ataxia
• Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage
• Project DyAdd: classical eyeblink conditioning in adults with dyslexia and ADHD
• PSP-Phenotype in SCA8: Case Report and Systemic Review
• Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia
• Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
• Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
• REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
• Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures
• SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group
• Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects
• Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
• Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion
• Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan
• Somatic instability of the <em>FGF14</em> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
• Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics
• Spinocerebellar ataxia type 10 - A review
• Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
• Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
• Spinocerebellar ataxia type 31 exists in northeast China
• Spinocerebellar ataxia type 31: A clinical and radiological literature review
• Spinocerebellar ataxia type 36 (nicknamed Asidan)
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia type 6 in Brazil
• The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
• The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia
• The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene
• The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients
• Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
• Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15
• Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5
• Varied electrophysiologic patterns in spinocerebellar ataxia type 2