Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait.
Yin J et al.
Experimental Animals, 2025
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.
Faulkner IE et al.
Frontiers in Cellular Neuroscience, 2024
A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.
Bernhard FP et al.
Frontiers in Cellular Neuroscience, 2024
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations.
Sarasamma S et al.
Biology, 2023
Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.
Li S et al.
Bmc Neurology, 2023
Apo and ligand-bound high resolution Cryo-EM structures of the human Kv3.1 channel reveal a novel binding site for positive modulators.
Botte M et al.
Pnas Nexus, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Zebrafish Models of Autosomal Dominant Ataxias.
Quelle-Regaldie A et al.
Cells, 2021
Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.
Prieto M et al.
Molecular Psychiatry, 2020
Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.
Hsieh JY et al.
Elife, 2020
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y et al.
Journal of Human Genetics, 2020
Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.
Namikawa K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish.
Namikawa K et al.
Journal of Experimental Neuroscience, 2019
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Khare S et al.
Cerebellum (london, England), 2018
Roles of Post-translational Modifications in Spinocerebellar Ataxias.
Wan L et al.
Frontiers in Cellular Neuroscience, 2018
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Montaut S et al.
Parkinsonism & Related Disorders, 2017
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
Khare S et al.
Plos One, 2017
Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
Sun YM et al.
Clinical Genetics, 2016
Kv3.3 potassium channels and spinocerebellar ataxia.
Zhang Y et al.
The Journal of Physiology, 2016
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Perkins E et al.
The Journal of Physiology, 2016
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
Coutelier M et al.
Journal of Neurology, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R et al.
Brain : a Journal of Neurology, 2015
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al.
Brain : a Journal of Neurology, 2015
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A et al.
Plos One, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
Gallego-Iradi C et al.
Neurobiology of Disease, 2014
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.
Irie T et al.
The Journal of Physiology, 2014
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Subramony SH et al.
Cerebellum (london, England), 2013
Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.
Shakkottai VG et al.
Neurologic Clinics, 2013
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.
Zhao J et al.
The Biochemical Journal, 2013
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13).
Bürk K et al.
The International Journal of Neuroscience, 2013
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.
Middlebrooks JC et al.
Plos One, 2013
Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.
Issa FA et al.
Disease Models & Mechanisms, 2012
Brain pathology of spinocerebellar ataxias.
Seidel K et al.
Acta Neuropathologica, 2012
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
Minassian NA et al.
The Journal of Physiology, 2012
Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.
Issa FA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Figueroa KP et al.
Plos One, 2011
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels.
Mock AF et al.
Bmc Neuroscience, 2010
Past, present and future therapeutics for cerebellar ataxias.
Marmolino D et al.
Current Neuropharmacology, 2010
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Figueroa KP et al.
Human Mutation, 2010
The spinocerebellar ataxias.
Paulson HL
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2009