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
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Ma X et al.
Frontiers in Neurology, 2020
32655478 (PubMed )
Supplement: Data_Sheet_1.docx
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
Toft A et al.
Journal of Neurology, 2019
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C et al.
Brain : a Journal of Neurology, 2008
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
Züchner S et al.
American Journal of Human Genetics, 2006
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