Publications by authors named "Emma Kotes"

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Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).
Francesco Gavazzi, Samuel R Pierce, Vanessa Smith, Eric Yang, Julie Skorup, Emma Kotes

Mol Genet Metab· November 2025

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Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.
Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, Michelle G de Silva, Aída Lemes, Emma R Kotes

Neurol Genet· October 2025

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Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Emma R Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann

Ann Child Neurol Soc· July 2025

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Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.
Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang

J Child Neurol· January 2025

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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L Fraser, Joshua L Bonkowsky, Emma Kotes

Mol Genet Metab· May 2024

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Neutrophil-to-Lymphocyte Ratios and Infections after Traumatic Brain Injury: Associations with Hospital Resource Utilization and Long-Term Outcome.
Marina Levochkina, Leah McQuillan, Nabil Awan, David Barton, John Maczuzak, Emma Kotes

J Clin Med· September 2021

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