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Paper Details

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
5
2023
AMFR, AMFR dysfunction, AMFR variants, HSP, Hereditary spastic paraplegias, NSCs, Patient, RING-H2 finger E3 ubiquitin ligase, amfra-/-, autosomal recessive, autosomal recessive spastic paraplegia, bi, developmental delay, human, inherited neurodegenerative or neurodevelopmental disorders, intellectual disability, lower limb spasticity, motor, motor dysfunction, motor neuron, motor neuron dysfunction, muscle weakness, neural stem cells, patient, patient-derived fibroblasts, patients, progressive spasticity, statin, statins, zebrafish, zebrafish larvae
Author NameAffiliation
Henry HouldenUCL Queen Square Institute of Neurology
Alistair T PagnamentaNIHR Biomedical Research Centre, University of Oxford
Siddharth BankaSt Mary's Hospital, Manchester University Foundation NHS Trust
Siddharth BankaThe University of Manchester
Nancy L KuntzAnn & Robert H. Lurie Children's Hospital of Chicago
Mahmoud Y IssaClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Joseph G GleesonHoward Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine
Stefan T AroldComputational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST)
Stefan T AroldCNRS, INSERM, Universite de Montpellier
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