Joanna C Jen, Jijun Wan. Handb Clin Neurol 2018
Times Cited: 4
Times Cited: 4
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Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
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Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
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Genetic Variants Associated with Episodic Ataxia in Korea.
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Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Ariel Levy, Anthony E Lang. Mov Disord 2018
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
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Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
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