Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Ma X et al.
Frontiers in Neurology, 2020
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
Kamada M et al.
Parkinsonism & Related Disorders, 2018
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
Schottmann G et al.
Neurology. Genetics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C et al.
Brain : a Journal of Neurology, 2008
Select a paper to view details