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Last Updated: 10/31/2025

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Found 79 publications

PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis.

PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis.

Journal: Autophagy
Published: October 08, 2025

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Journal: Cerebellum (London, England)
Published: July 03, 2025

CAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain.

CAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain.

Journal: Cerebellum (London, England)
Published: February 16, 2025

Posterior Subthalamic Area Deep Brain Stimulation Combined with Spinal Cord Stimulation in a Patient with Spinocerebellar Ataxia Type 12.

Posterior Subthalamic Area Deep Brain Stimulation Combined with Spinal Cord Stimulation in a Patient with Spinocerebellar Ataxia Type 12.

Journal: Movement disorders clinical practice
Published: December 05, 2024

Non-motor symptoms in patients with Spinocerebellar ataxia type 12.

Non-motor symptoms in patients with Spinocerebellar ataxia type 12.

Journal: Frontiers in neurology
Published: July 13, 2024

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Journal: Human molecular genetics
Published: July 08, 2024

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: March 18, 2024

Bilateral Deep Brain Stimulation of Posterior Subthalamic Area in Patient with Spinocerebellar Ataxia Type 12.

Bilateral Deep Brain Stimulation of Posterior Subthalamic Area in Patient with Spinocerebellar Ataxia Type 12.

Journal: Movement disorders clinical practice
Published: January 18, 2024

Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis.

Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis.

Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: December 24, 2023

Role of Bβ1 overexpression in the pathogenesis of SCA12.

Role of Bβ1 overexpression in the pathogenesis of SCA12.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 18, 2023

Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing.

Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing.

Journal: Stem cell research
Published: November 15, 2023

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient.

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient.

Journal: Stem cell research
Published: November 08, 2023
Showing 1-12 of 79

Last Updated: 10/31/2025