|
| 35962273 | The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. | Cerebellum | 2023 |
| 37772290 | Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia. | Mov Disord Clin Pract | 2023 |
| 37023261 | Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography. | Mov Disord | 2023 |
| 36804094 | Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. | Lancet Neurol | 2023 |
| 36797067 | Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. | Neurology | 2023 |
| 34519102 | Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. | Mov Disord | 2022 |
| 35475582 | Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. | Mov Disord | 2022 |
| 35563872 | Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions. | Cells | 2022 |
| 36199580 | The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. | Front Genet | 2022 |
| 36092952 | ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10. | HGG Adv | 2022 |
| 35123369 | Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10. | Clin Neurol Neurosurg | 2022 |
| 35179228 | Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation. | Muscle Nerve | 2022 |
| 35022573 | Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. | Nat Rev Neurol | 2022 |
| 33251611 | Balance and physical functioning in Spinocerebellar ataxias 3 and 10. | Acta Neurol Scand | 2021 |
| 33681653 | Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion. | Epilepsia Open | 2021 |
| 33728569 | Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population. | Cerebellum | 2021 |
| 34921454 | Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness". | Mov Disord | 2021 |
| 34632710 | CCGâ¿¢CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. | EMBO Mol Med | 2021 |
| 34160773 | DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. | Neurotherapeutics | 2021 |
| 29734917 | Body composition in Spinocerebellar ataxia type 3 and 10 patients: Comparative study with control group. | Nutr Neurosci | 2020 |
| 32105964 | The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. | Parkinsonism Relat Disord | 2020 |
| 33362853 | A CRISPR-Cas13a Based Strategy That Tracks and Degrades Toxic RNA in Myotonic Dystrophy Type 1. | Front Genet | 2020 |
| 32745980 | Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. | Parkinsonism Relat Disord | 2020 |
| 32743982 | Primary coenzyme Q10 deficiency due to COQ8A gene mutations. | Mol Genet Genomic Med | 2020 |
| 32939785 | Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. | Ann Neurol | 2020 |
| 32982927 | Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA. | Front Neurol | 2020 |
| 32497992 | Cancer frequency in patients with spinocerebellar ataxia type 10. | Parkinsonism Relat Disord | 2020 |
| 32205441 | Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis. | Proc Natl Acad Sci U S A | 2020 |
| 32298361 | Correction:Â Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. | PLoS One | 2020 |
| 32199743 | Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. | Parkinsonism Relat Disord | 2020 |
| 32454319 | Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. | J Neurol Sci | 2020 |
| 32287265 | Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. | PLoS One | 2020 |
| 32160188 | Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. | PLoS One | 2020 |
| 30554804 | Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. | Neurobiol Aging | 2019 |
| 31750030 | Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. | Neurol Clin Pract | 2019 |
| 29987489 | Intravenously Administered Novel Liposomes, DCL64, Deliver Oligonucleotides to Cerebellar Purkinje Cells. | Cerebellum | 2019 |
| 29922950 | Olfactory Function in SCA10. | Cerebellum | 2019 |
| 31323545 | Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. | Clin Neurol Neurosurg | 2019 |
| 31377949 | Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. | Cerebellum | 2019 |
| 30830673 | Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. | Cerebellum | 2019 |
| 30994454 | Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription. | Elife | 2019 |
| 29193335 | C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. | Mov Disord | 2018 |
| 30131520 | Spinocerebellar ataxias: prospects and challenges for therapy development. | Nat Rev Neurol | 2018 |
| 30206144 | SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. | EMBO J | 2018 |
| 30065952 | Longitudinal analysis of contrast acuity in Friedreich ataxia. | Neurol Genet | 2018 |
| 30746424 | <sup>99m</sup>Tc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism. | Mov Disord Clin Pract | 2018 |
| 30524939 | Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies. | Curr Stem Cell Rep | 2018 |
| 30588381 | Consensus-based care recommendations for adults with myotonic dystrophy type 1. | Neurol Clin Pract | 2018 |
| 30410042 | Author Correction: Spinocerebellar ataxias: prospects and challenges for therapy development. | Nat Rev Neurol | 2018 |
| 30274788 | Therapeutic Genome Editing for Myotonic Dystrophy Type 1Â Using CRISPR/Cas9. | Mol Ther | 2018 |