Kufor Rakeb Syndrome with Novel Mutation and the Role of Deep Brain Stimulation
Author:
Affiliation:
1. Department of Neurology Nizam's Institute of Medical Sciences Hyderabad Telangana India
2. Department of Neurosurgery Nizam's Institute of Medical Sciences Hyderabad Telangana India
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13518
Reference8 articles.
1. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
2. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
3. PALLIDO-PYRAMIDAL DISEASE
4. First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation inATP13A2Gene
5. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum;Journal of Movement Disorders;2023-09-30
2. Outcome of deep brain stimulation in autosomal recessive monogenic mutations in young onset Parkinson's Disease;Parkinsonism & Related Disorders;2023-07
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