G Yoon, R Westmacott, L MacMillan, N Quercia… - Case …, 2009 - casereports.bmj.com
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …
S D'Arrigo, D Riva, S Bulgheroni… - Journal of child …, 2008 - journals.sagepub.com
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and …
R Albaradie, A Alharbi, G Alsaffar… - Experimental and …, 2022 - spandidos-publications.com
Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early …
Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with …
AQ Rana, OA Khan, R Akthar - Annals of Indian Academy of …, 2013 - journals.lww.com
Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic …
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over …
N Nouri, N Nouri, O Aryani… - Iranian Biomedical …, 2012 - ncbi.nlm.nih.gov
Background Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene …
R van Minkelen, M Guitart, C Escofet, G Yoon… - BMC Medical …, 2015 - Springer
Background Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive …
M Ferrarini, G Squintani, T Cavallaro, S Ferrari… - Journal of the …, 2007 - Elsevier
Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically …