Associated Papers
Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
Zubair U et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.
Moeinafshar A et al.
Bmc Neurology, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R et al.
American Journal of Medical Genetics. Part A, 2024
Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models.
Williams LA et al.
Molecular Therapy. Nucleic Acids, 2022
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.
Tamim-Yecheskel BC et al.
Autophagy, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S et al.
Human Mutation, 2021
TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
Patwari PP et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2016
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Heimer G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
Stadel D et al.
Molecular Cell, 2015
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D et al.
American Journal of Human Genetics, 2012