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Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

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Therapeutic advances in rare disease·2026

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Muscle membrane protein kinase in myotonic muscular dystrophy

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Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Using genetics to enable studies on the prevention of Alzheimer's disease.

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

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Molecular mechanisms and pathogenesis of MASH.

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AMETHYST: a Retrospective Cohort Study of Treatment Patterns and Outcomes in Patients With Glucocorticoid-refractory Macrophage Activation Syndrome Complicating Still's Disease.

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