Work

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier

Year: 2026

Type: article

Study design: Case Report

Source: Neurogenetics

DOI: 10.1007/s10048-026-00931-1

Authors: Jana Vasova, Cinzia Rinaldo, Francesca Sardina, Anna Peckova, Ladislava Rennerova, Dana Safka Brozkova, Alena Musilova, Anna Uhrova Meszarosova

Institutions: Charles University, Fakultní nemocnice Motol a Homolka, Institute of Molecular Biology and Pathology, National Research Council

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

Funders: Ministerstvo Zdravotnictví Ceské Republiky, NextGenerationEU

Awards: G1460529261, G3158984038, G5858365176

OpenAlex ID: W7204486255

FWCI:

Cites: 34

Cited by:

Related to: 10