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 …
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 …
M Hirano, R Matsumura, Y Nakamura, K Saigoh… - Journal of the …, 2017 - Elsevier
Introduction Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused …
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 …
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 …
X Wu, N Dong, Z Liu, T Tang, M Liu - Frontiers in Neurology, 2022 - frontiersin.org
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive …
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 …
Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye …
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 …