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Ataxia

Discuss literature indexed with the corpus topic “Ataxia”.

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Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes.
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Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.
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Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency.
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Deep Brain Stimulation Microelectrodes as a Source of Human Subcortical RNA: Validation of a Low-Input Transcriptomic Protocol
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The Hidden Burden of Structural Variants in Neurodegenerative and Neuromuscular Disorders
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MSTO1 functions as a TRiC assembly factor linking cytosolic proteostasis to mitochondrial function
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Olduvai Domains Downregulate Mitochondrial Pathways to Promote Human Brain Evolution and Neoteny
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Effects of NMDA antagonists on social behaviour: a systematic review and meta-analysis of preclinical studies
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Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.
Ataxia

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