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Late‐Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6

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Year: 2025
Type: article
Abstract: Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
Source: Movement Disorders Clinical Practice
DOI: 10.1002/mdc3.70460
Authors: Agustín Querejeta‐Coma, Almudena Avila‐Fernandez, Laura Santos Sánchez de las Matas, Ana Arteche‐Lopez, María Jose Trujillo‐Tiebas, Saoud Tahsin‐Swafiri, Carlos Manuel Ordás‐Bandera
Institutions: Universidad Rey Juan Carlos, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Hospital Universitario 12 De Octubre
Language: English

Topic: Genetic Neurodegenerative Diseases
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green
OpenAlex ID: W4416813849
FWCI:
Cites: 9
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