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Cerebellar Ataxia and Deficiency.

作者信息

Quinzii Catarina M, Hirano Michio, Naini Ali

机构信息

Department of Neurology, Columbia University Medical Center, NY, USA.

Department of Pathology & Cell Biology, Columbia University Medical Center, NY, USA.

出版信息

J Neurol Disord Stroke. 2013;1(1):1004.

Abstract
摘要

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本文引用的文献

1
Mutations in COQ2 in familial and sporadic multiple-system atrophy.
N Engl J Med. 2013 Jul 18;369(3):233-44. doi: 10.1056/NEJMoa1212115. Epub 2013 Jun 12.
2
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206.
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Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29.
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The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
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Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.
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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
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Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
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