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Author

Audrey Smith

2 papers indexed here

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Case report Open access Sep 2026

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

The potential role of PTEN in the pathogenesis of parkinsonism is discussed, and the spectrum of reported neurological features of PHTS is expanded to include hitherto unreported levodopa-responsive parkinsonism.

Sacha E. Gandhi, R. Siripurapu, Audrey Smith et al. · 0 citations
Open access Sep 2026

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well-Phenotyped International Cohort.

OBJECTIVE To evaluate the incremental diagnostic yield of sequencing in a large, well-phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. METHODS Retrospective multicenter cohort study of fetuses with a prenatal diag...

Lorraine Dugoff, N. Chandler, Stephanie K. Allen et al. · 0 citations

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