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Last Updated: 10/31/2025

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Found 34 publications

Spinocerebellar Ataxia 44 Caused by a Novel GRM1 Variant: Reviewing the Contrasting Pathogenic Mechanisms Underlying Two GRM1-Associated Hereditary Ataxias.

Spinocerebellar Ataxia 44 Caused by a Novel GRM1 Variant: Reviewing the Contrasting Pathogenic Mechanisms Underlying Two GRM1-Associated Hereditary Ataxias.

Journal: Cerebellum (London, England)
Published: April 02, 2025

A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait.

A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait.

Journal: Experimental animals
Published: March 25, 2025

Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.

Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.

Journal: Cerebellum (London, England)
Published: March 19, 2025

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Journal: Cerebellum (London, England)
Published: October 05, 2023

Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.

Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia.

Journal: Cerebellum (London, England)
Published: June 29, 2023

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.

Journal: BMC neurology
Published: April 19, 2023

A Novel Nonsense Variant in GRM1 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.

Journal: Genes
Published: August 27, 2022

Multiple Roles of Actin in Exo- and Endocytosis.

Multiple Roles of Actin in Exo- and Endocytosis.

Journal: Frontiers in synaptic neuroscience
Published: December 22, 2021

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.

Journal: Global medical genetics
Published: August 07, 2021

Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family.

Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family.

Journal: Journal of movement disorders
Published: May 20, 2020

Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.

Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.

Journal: eLife
Published: March 29, 2020

Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.

Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: July 20, 2018
Showing 1-12 of 34

Last Updated: 10/31/2025