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doi: 10.1210/endo.130.1.1727694

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Toward a refined genotype-phenotype classification scheme for the international consensus classification of focal cortical dysplasia

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Efficient reduction of lipoamide and lipoic acid by mammalian thioredoxin reductase

Indeed, loss of function due to mislocalization of TDP-43 causes aberrant cryptic splicing in genes including STMN2 and UNC13A that drive the progression of ALS [12,13,14,15, 17]
