An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers.

Protective role of PASH-1 in CGG repeat-driven RNA and protein toxicity in FXTAS.

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.

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

eVGeMdb: a manually curated database for experimentally validated genetic modifiers of neurodegenerative disorders.

Neurodegeneration Within the Spectrum of Pervasive Developmental Disorders.

A Case of Fragile-X Associated Tremor/Ataxia Syndrome Presenting with Hemichorea and Strabismus.

Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference.

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.

Molecular Repositioning of Celecoxib as a Neurotherapeutic Agent in Fragile X‑Associated Tremor/Ataxia Syndrome (FXTAS).

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

Oligodendrocyte Inclusion Pathology in Fragile X-Associated Tremor/Ataxia Syndrome.

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain.

Case Report: A 1-year progression of mediolateral gait instability during tandem walking in FXTAS.

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS).

Biomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review.

Lacosamide Interaction with Expanded CGG Repeats RNA and Its Role in Modulating Poly-Glycine Protein-Mediated Toxicity in Fragile‑X Tremor/Ataxia Syndrome.

Repurposing Nitazoxanide to target the expanded r(CGG)n repeat RNA for therapeutic intervention in fragile-X tremor/ataxia syndrome.

Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by FMR1 variant P626L.

Prevalence of NOTCH2NLC and FMR1 Repeat Expansions in Atypical Parkinsonism Compared to Asymptomatic Elderly Individuals.

Fragile X-associated tremor/ataxia syndrome: a case report with atypical spinal cord atrophy and altered somatosensory evoked potentials.

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia.

[Development of Therapeutic Agents Targeting Higher-order Structures of Nucleic Acids in Neurodegenerative Diseases].

Tyrosine Peptides Alleviates Multifaceted Toxicity Linked to Expanded CGG Repeats in Fragile X‑Associated Tremor/Ataxia Syndrome.

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions.

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.

Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology.

Significantly Increased Aqueous Solubility of Piperine via Nanoparticle Formulation Serves as the Most Critical Factor for Its Brain Uptake Enhancement.

Premutation Females with preFXTAS.

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.

Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.

Neurovisual Training With Acoustic Feedback: An Innovative Approach for Nystagmus Rehabilitation.

Diagnosis of hereditary ataxias: a real-world single center experience.

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

MR-Guided Focused Ultrasound for the Treatment of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome.

Exacerbation of Fragile X-associated Tremor/Ataxia Syndrome in the Context of COVID-19 Infection: A Case Report.

Unilateral MRIgFUS thalamotomy: Long-term follow-up in fragile X-associated tremor/ataxia syndrome.

Fragile X-associated tremor/ataxia syndrome: A case report.

Dystonic Tremor as the Clinical Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome.

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation.

Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.

Psychiatric Manifestations in Early to Middle Stages of Fragile X-Associated Tremor-Ataxia Syndrome (FXTAS).

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.

Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation.

Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases.

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.

Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective.

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

Managing tremor in fragile X-associated tremor/ataxia syndrome with botulinum neurotoxin: report of a success.

Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.

I123-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.

Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation.

Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients.

Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.

RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction.

Case Series: Vestibular Migraines in Fragile X Premutation Carriers.

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.

Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor.

Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.

Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).

FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.

FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.

Sensorimotor and inhibitory control in aging FMR1 premutation carriers.

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research.

Trehalose consumption ameliorates pathogenesis in an inducible mouse model of the Fragile X-associated tremor/ataxia syndrome.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

A Longitudinal Study of Executive Function in Daily Life in Male Fragile X Premutation Carriers and Association with FXTAS Conversion.

Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.

Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor.

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation.

A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome.

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS.

Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.

Clinical implications of somatic allele expansion in female FMR1 premutation carriers.

Mouse models of fragile X-related disorders.

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders.

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.

Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.

[The neuropathological mechanism on guanine-rich repeat expansion diseases].

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes.

Tophaceous gout of the nose in a male FMR1 premutation carrier.

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome.

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women.

Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.

A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders.

The inherited cerebellar ataxias: an update.

Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat.

Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome.

CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins.

Cerebellum neuropathology and motor skill deficits in fragile X syndrome.

Quality of Life in Fragile X-Associated Tremor/Ataxia Syndrome.

Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease.

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.

Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.

RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration.

The polyG diseases: a new disease entity.

Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.

Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression.

A case of idiopathic normal pressure hydrocephalus with fragile X-associated tremor/ataxia syndrome.

[The cellular functions of G-quadruplex in neurological diseases].

Cognitive Dysfunction in Repeat Expansion Diseases: A Review.

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome.

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Partners in crime: Proteins implicated in RNA repeat expansion diseases.

Rare tremors and tremors occurring in other neurological disorders.

Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.

Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.

Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome.

Small Molecule Screening Discovers Compounds that Reduce FMRpolyG Protein Aggregates and Splicing Defect Toxicity in Fragile X-Associated Tremor/Ataxia Syndrome.

Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.

Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.

Fragile X Premutation: Medications, Therapy and Lifestyle Advice.

Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers.

Allopregnanolone Improves Locomotor Activity and Arousal in the Aged CGG Knock-in Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome.

Teaching Video NeuroImage: Tremor and Cerebellar Ataxia in a Patient With Fragile X-Associated Tremor/Ataxia Syndrome.

Recent research in fragile X-associated tremor/ataxia syndrome.

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers.

Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.

Type II Alexander disease with fragile X mental retardation 1 gene mutation.

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.

Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases.

Parkinsonism and tremor syndromes.

Mechanisms of Genome Instability in the Fragile X-Related Disorders.

Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.

Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity.

Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.

(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders.

Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.

Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS.

Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum.

Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.

The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.

Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy.

Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation.

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).

Human oncoprotein 5MP suppresses general and repeat-associated non-AUG translation via eIF3 by a common mechanism.

Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome.

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.

Corrigendum: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration.

Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India.

Fragile X-associated tremor/ataxia syndrome: pathophysiology and management.

MRI Shrimp Sign in Cerebellar Progressive Multifocal Leukoencephalopathy: Description and Validation of a Novel Observation.

X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.

Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction.

Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS.

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

The Molecular Function of PURA and Its Implications in Neurological Diseases.

Fragile X premutation rCGG repeats impair synaptic growth and synaptic transmission at Drosophila larval neuromuscular junction.

Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.

'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.

Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats.

Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.

Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement.

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.

Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS.

Brain 18F-FDG and 18F-Flumetamol PET Imaging of Fragile X-Associated Tremor Ataxia Syndrome.

Fragile X premutation and associated health conditions: A review.

Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report.

miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis.

Premutations in the FMR1 gene in Serbian patients with undetermined tremor, ataxia and parkinsonism.

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates.

Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.

Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease.

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene.

Metabolic Alterations in FMR1 Premutation Carriers.

Women with Fragile X-associated Tremor/Ataxia Syndrome.

Label-free Electrochemical Detection of CGG Repeats on Inkjet Printable 2D Layers of MoS2.

Cardiovascular Problems in the Fragile X Premutation.

Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.