Disease: Spinocerebellar ataxia dysmorphism
- A 24-Year-Old Man With Spastic Ataxia and Hypodontia
- A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
- A Case Report of Cardiofaciocutaneous Syndrome with <em>MAP2K1</em> Pathogenic Variant
- A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome
- A Diagnostic Approach to Spastic ataxia Syndromes
- A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
- A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
- A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
- A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
- A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
- A Novel Nonsense Variant in <em>GRM1</em> Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
- A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
- A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
- A study on non-invasive prenatal screening for the detection of aneuploidy
- Airway Obstruction Caused by Mucinous Material Adherent to the Epiglottis in a Patient with a Progressive Neurological Disorder: An Unusual Case of a Condition Mimicking Acquired Laryngomalacia
- An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
- Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias
- Ataxia and spastic paraplegia in mitochondrial disease
- ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas
- Autosomal Dominant Spinocerebellar Ataxias: The Subtypes
- Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation
- Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients
- Characteristic clinical and ultrastructural findings in nesprinopathies
- Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey
- Chromosome instability syndromes
- CIC missense variants contribute to susceptibility for spina bifida
- Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications
- Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study
- Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
- Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient
- Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
- Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS)
- DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
- Downbeat nystagmus and progressive ataxia in adults: consider Chiari malformation type 1
- Early-onset cerebellar ataxia in a patient with CMT2A2
- Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
- EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
- Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
- Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
- Expanding genes, repeating themes and therapeutic schemes: The neurobiology of tandem repeat disorders
- Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
- Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
- Genetic mimics of cerebral palsy
- Genetic Myelopathies
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
- Hereditary cerebellar ataxias and hereditary spastic paraplegias: experience of disease from the patient's perspective
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Highly efficient manipulation of nervous system gene expression with NEPTUNE
- Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families
- Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
- Human RAD50 deficiency: Confirmation of a distinctive phenotype
- Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
- Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
- Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
- Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation
- Investigation on the growth factor regulatory network of dermal fibroblasts in mouse full-thickness skin defect wounds based on single-cell RNA sequencing
- Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
- Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
- Long-term follow-up of an individual with ITPR1-related disorder
- Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications
- Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
- Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report
- MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
- Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia
- Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort
- Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia
- Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
- Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews
- Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
- Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
- Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
- POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
- POLR3A-related spastic ataxia: new mutations and a look into the phenotype
- Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia
- Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
- Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
- REM sleep behaviour disorder in patients without synucleinopathy
- Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
- RNA toxicity in non-coding repeat expansion disorders
- Screening for the FMR1 premutation in Greek patients with late-onset movement disorders
- Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
- Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
- Spinocerebellar ataxias (SCAs) caused by common mutations
- Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers
- Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <em>ITPR1</em>-Related Disorders
- Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases
- The first case report of spinocerebellar ataxia type-40 in India: novel phenotypic and radiological (bilateral olivary degeneration) features and a comprehensive review of this remarkable radiological sign
- The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort
- Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation
- Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia
- Two Italian Patients with <em>ELOVL4</em>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
- Vertical nystagmus
- Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
- Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients
- Zebrafish Models of Autosomal Dominant Ataxias