Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA et al.
Pediatric Neurology, 2024
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
Gao SY et al.
Frontiers in Genetics, 2023
38028608 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Tripolszki K et al.
Frontiers in Genetics, 2019
31475037 (PubMed )
Supplement: DataSheet_1.pdf
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014
24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Proband-specific_variants
Select a paper to view details