Disease: Infantile onset spinocerebellar ataxia
- A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
- A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
- A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23
- A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature
- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
- Accumulation of senescence observed in spinocerebellar ataxia type 7 mouse model
- Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
- Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
- Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration
- Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients
- Autosomal dominant palatal myoclonus and spinal cord atrophy
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family
- Autosomal recessive spinocerebellar ataxias in Japan
- Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case
- Branching enzyme deficiency: expanding the clinical spectrum
- Case of infantile onset spinocerebellar ataxia type 5
- cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia
- Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report
- Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
- De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
- Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions
- Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity
- Distinct phenotypes within autosomal recessive ataxias not linked to already known loci
- Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk
- Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
- First families with spinocerebellar ataxia type 7 in Poland
- Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
- GM2 gangliosidosis AB variant: first case of late onset and review of the literature
- Heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia
- Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia
- Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy
- Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing
- Infantile childhood onset of spinocerebellar ataxia type 2
- Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3
- Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy
- Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases
- Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
- Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
- Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features
- Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6
- Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
- Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy
- Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report
- Infantile-onset spinocerebellar ataxia: MR and CT findings
- Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
- Investigation of recessive ataxia loci in patients with young age of onset
- IOSCA - Infantile onset spinocerebellar ataxia
- Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data
- Lethal form of spinocerebellar ataxia type 7 with early onset in childhood
- Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes
- Long-term follow-up in infantile-onset SCAR18: A case report
- Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
- Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise
- Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders
- Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers
- Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
- Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism
- Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
- Multifaceted and Age-Dependent Phenotypes Associated With Biallelic <em>PNPLA6</em> Gene Variants: Eight Novel Cases and Review of the Literature
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
- Neuroimaging Applications in Chronic Ataxias
- Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
- Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations
- Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy
- Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families
- Other autosomal recessive and childhood ataxias
- Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
- Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes
- Practical clues for diagnosing WWOX encephalopathy
- Primary and secondary CoQ(10) deficiencies in humans
- Primary hypogonadism in females with infantile onset spinocerebellar ataxia
- Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
- PUMILIO1 Links Epilepsy to Spinocerebellar Ataxia
- Rare forms of autosomal recessive neurodegenerative ataxia
- Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy
- Recessive twinkle mutations cause severe epileptic encephalopathy
- Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
- Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7
- Retinal axonal degeneration in Niemann-Pick type C disease
- SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
- Scientific rationale for a higher dose of nusinersen
- Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy
- Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy
- Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood
- Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence
- Spinocerebellar ataxias
- Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene
- Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes
- Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
- The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
- The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature
- Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
- Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
- Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study
- Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
- Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
- WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
- West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations
- ZASP: a new Z-band alternatively spliced PDZ-motif protein