Work

A STOP ‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

Year: 2025

Type: article

Source: Movement Disorders

DOI: 10.1002/mds.70077

Authors: Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci

Institutions: Northwestern University, University of Rome Tor Vergata, Istituto Giannina Gaslini

Language: English

Topic: Neurological and metabolic disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,480

Funders: Northwestern University, Parkinson's Foundation, National Institutes of Health

Award: Understanding the role of BORCS5 in neuronal lysosomal function and neurodegeneration

OpenAlex ID: W4414549103

FWCI:

Cites: 5

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