Associated Papers
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.
Kang C et al.
Movement Disorders Clinical Practice, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.
Baggiani M et al.
Stem Cell Research, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Converging Role for REEP1/SPG31 in Oxidative Stress.
Naef V et al.
International Journal of Molecular Sciences, 2023
A clinical and genetic study of SPG31 in Japan.
Hata T et al.
Journal of Human Genetics, 2022
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Wu C et al.
Annals of Clinical and Translational Neurology, 2022
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Ma X et al.
Frontiers in Neurology, 2020
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
Toft A et al.
Journal of Neurology, 2019
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
Fisher KM et al.
Journal of Neurology, 2013
REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity.
Björk S et al.
Plos One, 2013
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C et al.
American Journal of Human Genetics, 2012
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C et al.
Human Mutation, 2011
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH et al.
The Journal of Clinical Investigation, 2010
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
Hewamadduma C et al.
Neurogenetics, 2009