Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG5
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L et al.
Brain : a Journal of Neurology, 2017
Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis.
Vij M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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