Work

Novel heterozygous PNPT1 variant in a family with sensory ataxic neuropathy

Year: 2024

Type: conference-paper

Study design: Case Report

DOI: 10.1136/jnnp-2024-abn.1

Authors: Haddad Saif, Record Christopher, Skorupinska Mariola, Rossor Alex, Laura Matilde, Blake Julian, Reilly Mary

Institutions: National Hospital for Neurology and Neurosurgery, University College London

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4404183260

FWCI:

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Related to: 10