Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

Eitemau Tebyg

• Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
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  Cyhoeddwyd: (2007)
• A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy
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  Cyhoeddwyd: (2019)
• Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
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  Cyhoeddwyd: (2014)
• Mapping GPR88-Venus illuminates a novel role for GPR88 in Sensory Processing
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  Cyhoeddwyd: (2017)
• A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
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  Cyhoeddwyd: (2014)