Last Updated: 09/26/2026
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Found 74 publications
Restoring Parkin Function: An AAV Gene Therapy Approach for Early-Onset Parkinson's Disease.
Journal: bioRxiv : the preprint server for biology
Published: July 29, 2026
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Journal: Biology
Published: January 09, 2024
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Journal: Journal of neurology
Published: August 18, 2023
Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials.
Journal: Human gene therapy
Published: January 25, 2023
Geographic Barriers Drive Disparities in Specialty Center Access for Older Adults with Huntington's Disease.
Journal: Journal of Huntington's disease
Published: March 07, 2022
Predicting Severity of Huntington's Disease With Wearable Sensors.
Journal: Frontiers in digital health
Published: February 11, 2022
The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Journal: The Journal of biological chemistry
Published: February 02, 2022
DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing.
Journal: Genome biology
Published: October 04, 2021
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
Journal: International journal of molecular sciences
Published: July 11, 2021
Last Updated: 09/26/2026