Long-term efficacy and disease-specific responsiveness to protirelin in patients with spinocerebellar degeneration: A retrospective study.

[Trinucleotide repeat disorders].

Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

Reduced Dopamine Transporter Uptake in Dentatorubral-Pallidoluysian Atrophy.

Disrupted Transcriptional Networks in Mammalian Cells Stably Over-Expressing Pathogenic Atrophin-1.

ERBB4 colocalizes with phosphorylated tau aggregates in multiple tauopathies.

Epilepsy in dentatorubral-pallidoluysian atrophy: A systematic review and meta-analysis.

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.

The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.

Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.

Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.

Intrathecal baclofen therapy can improve spasticity associated with infantile-onset dentatorubral-pallidoluysian atrophy: illustrative cases.

Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients.

Accurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.

[Progressive Myoclonus Epilepsy: Diversity of Disorders and Key Points in Clinical Practice].

Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.

MRI-based brain structural changes in adult-onset dentatorubral-pallidoluysian atrophy.

The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy.

Natural History and Progression of Dentatorubral-Pallidoluysian Atrophy (DRPLA): A Retrospective Study of 22 Patients.

Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort.

Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.

Insights into dentatorubral-pallidoluysian atrophy from a new Drosophila model of disease.

Mammalian nucleophagy: process and function.

Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.

Location of polyglutamine track affects pathogenic threshold of polyglutamine expansion diseases - Importance of association with the proteasome.

Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family.

Erucin, a Natural Isothiocyanate, Prevents Polyglutamine-Induced Toxicity in Caenorhabditis elegans via aak-2/AMPK and daf-16/FOXO Signaling.

Dentatorubral-pallidoluysian atrophy: a case report and review of literature.

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Polyglutamine (PolyQ) Diseases: Navigating the Landscape of Neurodegeneration.

Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.

Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.

Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects.

[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].

Dancing, Lurching and Swaying: An Indian Case of Dentatorubral-Pallidoluysian Atrophy.

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Intracerebral Distribution of CAG Repeat-Binding Small Molecule Visualized by Whole-Brain Imaging.

Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.

PolyQ Database-an integrated database on polyglutamine diseases.

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Isolated paravermal T2 high-intensity lesions in dentatorubral-pallidoluysian atrophy.

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.

Machine Learning Approach for the Prediction of Age-Specific Probability of SCA3 and DRPLA by Survival Curve Analysis.

Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity.

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography.

Simple and clear differentiation of spinocerebellar degenerations: Overview of macroscopic and low-power view findings.

Use of perampanel in children with refractory epilepsy of genetic aetiology.

The neostriatum in polyglutamine diseases: preferential decreases in large neurons in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease and in small neurons in Huntington disease.

Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.

CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy.

DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?

Peptide Based Therapy for Neurological Disorders.

Pallidal degenerations and related disorders: an update.

Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

The rare and the common: An Austrian DRPLA family harboring the European haplotype.

Sympathetic nerve outflow to skin in a case with dentatorubral-pallidoluysian atrophy.

Coexistence of dentatorubral-pallidoluysian atrophy and Parkinson's disease: An autopsy case report.

SGTA associates with intracellular aggregates in neurodegenerative diseases.

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS.

DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.

The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy.

Autophagy and Polyglutamine Disease.

Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation.

Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression.

[The Role of Mutant RNA in the Pathogenesis of Huntington's Disease and Other Polyglutamine Diseases].

Application of protein knockdown strategy targeting β-sheet structure to multiple disease-associated polyglutamine proteins.

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

Fat cadherins in mouse models of degenerative ataxias.

Pathogenesis of SCA3 and implications for other polyglutamine diseases.

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.

Generation of human iPS cell line IBCHi001-A from dentatorubral-pallidoluysian atrophy patient's fibroblasts.

Detection of dentate nuclei abnormality in a patient with dentatorubral-pallidoluysian atrophy using the quantitative susceptibility mapping.

[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].

Cross-Sectional Area Analysis of the Head of the Caudate Nucleus in Huntington's Disease.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Perampanel in lissencephaly-associated epilepsy.

The Expanding Clinical Universe of Polyglutamine Disease.

Dentatorubral-pallidoluysian Atrophy: An Update.

Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.

Successful treatment of psychosis in dentatorubral-pallidoluysian atrophy with quetiapine: A case report.

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.

Transcriptional Dysregulation and Post-translational Modifications in Polyglutamine Diseases: From Pathogenesis to Potential Therapeutic Strategies.

Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report.

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.

A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging.

Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy.

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.

Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.

Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy.

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration.

The Missing Link in Polyglutamine Diseases.

Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress.

Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).

Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.

Atrophin controls developmental signaling pathways via interactions with Trithorax-like.

Commonalities in Biological Pathways, Genetics, and Cellular Mechanism between Alzheimer Disease and Other Neurodegenerative Diseases: An In Silico-Updated Overview.

Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation.

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.

Silencing of genes responsible for polyQ diseases using chemically modified single-stranded siRNAs.

Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders.

Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy.

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Photosensitivity in a patient with C9orf72 repeat expansion.

Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy.

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

G protein-coupled receptor 26 immunoreactivity in intranuclear inclusions associated with polyglutamine and intranuclear inclusion body diseases.

Studying polyglutamine diseases in Drosophila.

Eye of the Tiger Sign and Very Late Onset in Dentatorubral-Pallidoluysian Atrophy.

Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.

The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy.

[Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)].