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
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
SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › misCADDover15
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Clemen CS et al.
Brain : a Journal of Neurology, 2010
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