Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 03/06/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 77 publications

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

ATH434, a promising iron-targeting compound for treating iron regulation disorders.

ATH434, a promising iron-targeting compound for treating iron regulation disorders.

Journal: Metallomics : integrated biometal science
Published: May 29, 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

Abnormal cortical excitability in patients with spinocerebellar ataxia type 12.

Abnormal cortical excitability in patients with spinocerebellar ataxia type 12.

Journal: Parkinsonism & related disorders
Published: October 25, 2023

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Journal: Molecular biology reports
Published: September 24, 2023

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.

Journal: Molecular neurobiology
Published: September 09, 2023
Showing 1-12 of 77

Last Updated: 03/06/2025