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Spinocerebellar ataxia type 20.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Handb Clin Neurol. 2012. PMID: 21827916 Review.
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. ...In addition to ataxia, examination often reveals spasmodic d …
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited dis …
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.
Ebrahimi-Fakhari D. Ebrahimi-Fakhari D. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. Neuropediatrics. 2018. PMID: 29112993 Review.
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-associated beta-propeller protein-associated neurodegeneration, SNX14-associated autosomal-recessive spinocerebellar ataxia 20, AT …
Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: EPG5-associated Vici syndrome, WDR45-associated …