Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.

Structure-based medical acupuncture for trigeminal neuralgia secondary to lateral medullary syndrome: a case report.

[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.

Neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome: an important yet overlooked diagnosis in pediatric ataxia.

Spectrum of Movement Disorders in Hematological Malignancies: A Comprehensive Systematic Review of Clinical Phenotypes, Mechanisms, and Outcomes.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Richard Gatti: From concert pianist to bone marrow transplants and the DNA damage response syndrome, ataxia-telangiectasia.

Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.

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

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Case Report: Anti-GT1a antibody-associated ocular flutter.

Rethinking Corticosteroid Therapy in Pediatric Neurology.

[Correlation study between tumor location and pathological subtypes of neuroblastic tumors associated with opsoclonus myoclonus ataxia syndrome].

Surgical management of pediatric pineal region tumors: an overview of current strategies.

Clinical, practical, and psychosocial challenges of living with glucose transporter type 1 deficiency syndrome.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Distinct Risk Profiles in Posterior vs Anterior Circulation Strokes: A Prospective Study from Western India.

Progressive Myoclonic Epilepsies - A Pragmatic Review.

Bilateral basal ganglia hyperintensity and cerebellar dysfunction in avermectin poisoning: a case report.

A case report of persistent cerebellar dysfunction following acute lithium toxicity.

Characterizing Tumor-Induced Ataxia in a Vestibular Schwannoma Mouse Model.

Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.

Herpes Simplex Virus Encephalitis With Cerebellar Infarction and Cortical Laminar Necrosis.

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

Differential modulation of haematopoietic and oxidative injury by PARP-1 and ATR kinase inhibition in a murine model of acute irradiation.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

Successful fresh formulation CD19 CAR-T cell therapy for GAD65 antibody-mediated cerebellar ataxia. A Case Report.

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study.

Non-ICANS neurotoxicities CD19-directed CAR T-cell therapy and the emergence of movement and neurocognitive treatment-emergent adverse events: a case report.

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

Targeting Cognitive Dysfunction in Spinocerebellar Ataxia Type 2 Through Digital Cognitive Training.

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

Cannabidiol inhibits phenytoin clearance and can result in clinical changes: Two cases.

Unilateral biportal endoscopic partial cervical laminectomy and facetectomy: An ex vivo study and case report.

Human Herpesvirus 6-Associated Miller-Fisher Syndrome in a 5-Year-Old Child: A Case-Based Narrative Review of Pediatric Cases with Infectious Triggers.

Epizootic Haemorrhagic Disease Virus (EHDV) Infection in Red Deer (Cervus elaphus), Fallow Deer (Dama dama) and Mouflon (Ovis orientalis musimon) in South-Eastern Spain: Implications for Wildlife Health and Ruminant Disease Ecology.

The eye as a diagnostic key: the ophthalmologist's role in an atypical case of Miller Fisher Syndrome.

Familial Occurrence of Anti-NF155 Autoimmune Nodopathy in Father and Son: Expanding the Spectrum of IgG4-Related Nodopathies.

Correlation between cerebellar lesion topography and differential diagnosis with clinical presentation in dogs.

Emerging Forms of Avian Orthoreovirus Infection in Turkeys in Québec, Canada, Associated with Tenosynovitis, Hepatitis, and Encephalitis (2020-2022).

BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report.

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Neuropsychiatric sequelae in sporadic viral encephalitis.

The neural underpinnings of cognitive and postural profile of a young adult with congenital cerebellar athrophy: a longitudinal case report.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onset.

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Rehabilitation challenges and progress in a patient with sensory ataxic Guillain-Barré syndrome: a case report.

Wernicke Encephalopathy Associated with Malabsorption in Degos Disease.

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

Incorporating Patient Perspectives into a Composite Score for Measuring Disease Progression in Spinocerebellar Ataxia (SCA).

The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.

Prolonged Anti-Zic4 Antibody-Positive Cerebellar Degeneration Following COVID-19 Infection.

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Case Report and Literature Review of Mycoplasma Pneumoniae Associated Opsoclonus-Myoclonus-Ataxia Syndrome.

A Case of Ganglionopathy Presenting with Hyperkinetic Movements.

Cerebral Edema Secondary to Heavy Metal Toxicity From Siddha Medicine: A Case Report and Case-Based Review.

Malignancies in the context of Inborn errors of immunity: an immunologist's view.

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.

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

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

Child neurology: Early neuroprotective and immunomodulatory intervention in acute shock with encephalopathy and multiorgan failure: Cytokine-storm encephalopathy-case report.

Duolingo-induced seizures in GAD65 IgG associated autoimmune epilepsy.

Patient-reported Vision Quality-of-life in Parkinsonian Syndromes and Ataxias and Association with Clinical Oculomotor Findings.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

Recurrent Miller Fisher Syndrome: A Case Report.

Cerebellar clinical syndromes: the triad and rating scales.

Consensus Paper: Models of Cerebellar Functions.

Case Report: Intensive multidisciplinary motor-cognitive rehabilitation treatment in Gerstmann-Sträussler-Scheinker syndrome.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

Immunotherapy response in microsatellite-stable poorly differentiated thyroid carcinoma with mismatch repair deficiency and high tumor mutational burden.

See One, B1, Treat One: Identifying and Managing Thiamine Deficiency in a Patient With Altered Mental Status.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Anti-GM1 antibodies in Bickerstaff's brainstem encephalitis.

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

Retrospective Patient-Completed Questionnaire Exploring Stimulant Medication Effect on Fatigue, Alertness, Cognitive Symptoms, and Quality of Life in Cerebellar Disorders.

Neurologic Manifestations of Hepatic and Gastrointestinal Disease.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Basilar artery free-floating thrombus.

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

West Nile Virus as a Trigger for Acute Inflammatory Demyelinating Polyneuropathy: Exploring Intravenous Immunoglobulin (IVIG) Efficacy and Disease Variability.

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.

Constructing Neurology: Jean-Martin Charcot (1825-1893): A Bicentenary Tribute.

Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Late-onset anti-Yo antibody-positive paraneoplastic cerebellar degeneration: a case report.

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

Autoimmune cerebellar ataxia with anti-Homer3 antibodies associated with herpesvirus infection: a case report and literature review.

Anti-GQ1b Antibody Syndrome: A Clinician-Oriented Perspective on Diagnostics, Therapy, and Atypical Phenotypes-With an Illustrative 16-Case Institutional Series.

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

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Clinical Phenotypes and Prognosis of Anti-mGluR1 Encephalitis: A Single-Center Case Series and Comprehensive Literature Review.

RFC1 Repeat Expansion in Chronic Cough: Findings From the Korean Chronic Cough Registry.

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

Dengue-triggered opsoclonus myoclonus ataxia syndrome in an infant.

Co-occurrence of Neuroleptic Malignant Syndrome and Silent Syndrome in a Patient With Bipolar Disorder: Clinical Challenges and Long-term Neurological Sequelae.

'Pseudo-ataxic' negative myoclonic status in developmental and epileptic encephalopathy with spike-wave activation in sleep: Utility of ACTH therapy beyond west syndrome.

Brueghel syndrome: A missing entity. Case report.

Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.

Call for action: misinformation about Tourette syndrome from major media network.

Rapidly Progressive Cerebellar Syndrome Associated With Anti-Yo Antibodies Following Complete Response to Advanced Ovarian Carcinoma Treated With Olaparib: A Case Report.

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

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective.

Loss of Drosophila UBE3A phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila.

Severe Anti-CV2/CRMP5, Anti-Hu, and Anti-SOX1 Antibody-Positive Paraneoplastic Neurological Syndrome Associated With Tumor Recurrence During Atezolizumab Therapy.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Neurodegeneration Within the Spectrum of Pervasive Developmental Disorders.

Paraneoplastic neurologic disorders and neurologic complications of immune checkpoint inhibitors.

Immunotherapies in autoimmune movement disorders and cerebellar ataxia.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Diagnostic Detour: A Case of Opsoclonus-Myoclonus-Ataxia Syndrome Initially Misdiagnosed As Tricyclic Antidepressant Toxicity in a Child.

Isolated Vertigo as an Early Sign of Anti-GQ1b-Positive Miller Fisher Syndrome: Expanding the Spectrum.

Navigating Diagnostic Dilemmas: Miller Fisher Syndrome in Pregnancy Masquerading As Stroke.

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.

Case Report: Creutzfeldt-Jakob disease and diagnosis challenges: case report and evidence synthesis.

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

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

SWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model.

Coexisting cerebellar ataxia and Lambert-Eaton myasthenic syndrome without malignancy: insights from a case and systematic literature review.

HLA and T-Cell Receptor Investigations in Idiopathic and Paraneoplastic Opsoclonus-Myoclonus in Children.

The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.

The spectrum of movement disorders in neurosyphilis: A systematic review.

Miller Fisher Variant of Guillain-Barré Syndrome Presenting With Dysphagia and Ophthalmoplegia.

Effect of Physical Therapy on Vestibular Function in Body Lateropulsion Following Wallenberg Syndrome: A Case Report Using the Modified Clinical Test of Sensory Interaction and Balance.

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

A Dual Approach to Rehabilitation of an autoimmune ataxia : A case study involving the Adult-Onset Opsoclonus-Myoclonus-Ataxia Syndrome.

Overlapping Hepatic and Neurological Toxicity Following Intentional Multidrug Poisoning with Acetaminophen, Metoclopramide, and Metronidazole: A Case Report.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.

Isogenic iPSC-derived CTBP1 mutant neuronal cells exhibit neurodevelopmental defects.

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

Between the Borders: Balint Syndrome as a Rare Manifestation of Posterior Circulation Stroke.

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.

Fatigue Limits Motor and Cognitive Improvements after High-intensity Exercise Prior to Balance Training over Telehealth in People with Spinocerebellar Ataxia.

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

[Strongyloides stercoralis: a neglected and latent threat].

Autoimmune cerebellopyramidal syndrome as a complex form of autoimmune cerebellar ataxia: a cohort study.

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome.

Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis.

Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia.

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Clinical Framework for Motor Rehabilitation in Parkinsonism: Integrating Individualized and Syndrome-Specific Approaches.

The cyclic nucleotide binding sites of Swiss-Cheese, the Drosophila orthologue of human PNPLA6, are required for its catalytic function.

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

Opsoclonus-Myoclonus-Ataxia Syndrome Associated with Coexisting Anti-N-Methyl-D-Aspartate Receptor and Glial Fibrillary Acidic Protein Antibodies.

Prodromal Sleep Disturbances and Polysomnographic Findings in Patients With Creutzfeldt-Jakob Disease.

Post-COVID Myoclonus-Ataxia Syndrome: A Case Report of Successful Recovery With Intravenous Immunoglobulin (IVIG) Treatment.

LATERAL PONTINE STROKE SYNDROME PRESENTING AS A REPEAT STROKE: A CASE REPORT.

Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids Clinical Manifestations in Children Versus Adults.

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

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

TDP-43 suppression of ATP8A2 cryptic splicing implicates phosphatidylserine-driven neuroinflammation in ALS/FTD.

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.

Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias.

Antibody Positive Miller-Fisher Syndrome and Acute Motor Sensory Axonal Neuropathy With Respiratory Failure: A Rare Overlap.

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Effect of Aminopyridines on Oculomotor Dysfunction in Anti-GAD Ataxia: A Brief Report.

Post-infectious Cytomegalovirus Rhombencephalitis in an Immunocompetent Adult: A Case Report.

Paraneoplastic Lambert-Eaton myasthenic syndrome associated with non-small cell lung cancer: data from the European LEMS registry and systematic review.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Immune Checkpoint Inhibitor-Induced Miller Fisher Syndrome: A Case of Relapsing Symptoms Requiring a Slow Corticosteroid Taper.

The Cerebellar Cognitive Affective Syndrome in Essential Tremor Plus.

Anti-Tr/DNER Antibody-Associated Paraneoplastic Neurological Syndrome Complicated with Warthin Tumor: a Case Report and Literature Review.

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

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025).

The Cerebellar Neuropsychiatric Rating Scale Version 2: Development and Validation.

A case series of neuro-chikungunya: unmasking the neurotropic potential of chikungunya virus.

Neuroichthyosis: the interplay between brain and skin.

Clinical Reasoning: A 50-Year-Old Male Patient With Acute Severe Sensory Deafferentation and Bilateral Ptosis With Rapid Recovery.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS).

A Case of Retinopathy-Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant.

Immunodeficiency and hemolytic uremic syndrome: a case report.

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Etiologies of Acute Ataxia in Children: A Systematic Review of 1167 Subjects.

Anti-Yo positive paraneoplastic limbic encephalitis associated with nasopharyngeal carcinoma: A rare case.

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions.

Beyond Parkinson's Disease: A Narrative Review of Neuromelanin MRI in Neurodegenerative Diseases.

Experience of bortezomib use in refractory autoimmune neurological disorders.

H263A and SCAN1/H493R mutant TDP1 block TOP1-induced double-strand break repair during gene transcription in quiescent cells and promote cell death.

Parry-Romberg syndrome associated with ataxia: description of a patient improved after neurorehabilitation.

[Opsoclonus-myoclonus-ataxia syndrome associated with St Louis virus infection in Argentina].

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6.

Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.