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Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S, Logan R, Elson MJ, Luke RR, Verma S. Chakravorty S, et al. Sci Rep. 2020 Sep 30;10(1):16184. doi: 10.1038/s41598-020-73219-5. Sci Rep. 2020. PMID: 32999401 Free PMC article.
This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory polyneuropathy in subjects at a tertiary-care Children's Hospital from 2013 to 2019. Twenty subjects were identified and included. .. …
This study focuses on a retrospective chart-review of neurological examinations and genetic and electrodiagnostic data of confirmed sensory …
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580
Giant axonal neuropathy (GAN, MIM: 256850) is a devastating autosomal recessive disorder characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal …
Giant axonal neuropathy (GAN, MIM: 256850) is a devastating autosomal recessive disorder characterized by an early onse …
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment.
Chen PH, Hu J, Wu J, Huynh DT, Smith TJ, Pan S, Bisnett BJ, Smith AB, Lu A, Condon BM, Chi JT, Boyce M. Chen PH, et al. JCI Insight. 2019 Nov 26;5(1):e127751. doi: 10.1172/jci.insight.127751. Print 2020 Jan 16. JCI Insight. 2019. PMID: 31944090 Free PMC article.
Mutations in human gigaxonin cause the fatal neurodegenerative disease giant axonal neuropathy (GAN), in which IF proteins accumulate and aggregate in axons throughout the nervous system, impairing neuronal function and viability. ...Our work may have signifi …
Mutations in human gigaxonin cause the fatal neurodegenerative disease giant axonal neuropathy (GAN), in which IF prote …
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. Houlden H, et al. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. doi: 10.1136/jnnp.2007.118968. Epub 2007 Jun 19. J Neurol Neurosurg Psychiatry. 2007. PMID: 17578852 Free PMC article.
Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. ...
Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy …