C Criscuolo, P Mancini, F Sacca, G De Michele… - Neurology, 2004 - AAN Enterprises
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral …
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 …
C Criscuolo, P Mancini, V Menchise, F Sacca… - Annals of …, 2005 - iris.unina.it
Missense and truncating mutation in APTX gene are responsible of ataxia with oculomotor apraxia type 1 (AOA1) an autosomal recessive disorder characterized by early onset …
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 …
E Salvatore, A Varrone, C Criscuolo, P Mancini… - Journal of …, 2008 - Springer
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main …
Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive …
M Lee, NY Kim, JY Huh, YE Kim… - Journal of Clinical …, 2016 - synapse.koreamed.org
Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar …
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 …