Author

Georgia MacDonald

Observed name: G. MacDonald

Institution: Icahn School of Medicine at Mount Sinai

Observed institution: Icahn School of Medicine at Mount Sinai

OpenAlex ID: A5136180296

ArchSpiral: An iPad-Based Digital Archimedean Spiral Assessment for Objective Motor Evaluation in Rare Diseases

2026 · Daniel R. Schecter, Rory J. Tinker, et al. · medRxiv

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment

2026 · I.J.J. Muffels, K.A. Kantautas, et al. · medRxiv

A multi-omics map of DHDDS neurodegeneration reveals NMN as a targeted rescue strategy

2026 · Tamas Kozicz, Irena Muffles, et al. · Molecular Genetics and Metabolism

P004: Expanding the clinical and functional spectrum of NUS1-CDG: Insights from systematic phenotyping using NPCRS and ICARS*

2026 · Daniel Schecter, Georgia MacDonald, et al. · Genetics in Medicine Open

Works count: 4

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