Publications by authors named "Emory Ryan"

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Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism.
Ellen Hertz, Krystyna Rytel, Gani Perez, Ying Hao, Ziyi Li, Emory Ryan

Mov Disord· August 2025

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Obstacles to Early Diagnosis of Gaucher Disease.
Samantha Nishimura, Charis Ma, Ellen Sidransky, Emory Ryan

Ther Clin Risk Manag· January 2025

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Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky

Am J Med Genet A· September 2024

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Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.
Emory Ryan, Nahid Tayebi, Andrea D'Souza, Grisel Lopez, Jens Lichtenberg

Am J Med Genet A· October 2023

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The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Adenrele M Gleason, Andrea D'Souza, Emory Ryan, Angela R Grochowsky, Camille R Carter

Am J Med Genet A· July 2023

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An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.
Emily C Daykin, Chelsie N Poffenberger, Jenny Do, Emory Ryan, Nahid Tayebi

J Genet Couns· June 2023

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Facial features of lysosomal storage disorders.
Andrea D'Souza, Emory Ryan, Ellen Sidransky

Expert Rev Endocrinol Metab· November 2022

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Longitudinal evaluation of olfactory function in individuals with Gaucher disease and mutation carriers with and without Parkinson's disease.
Grisel J Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L Lecker

Front Neurol· October 2022

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Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Emily Daykin, Nicole Fleischer, Magy Abdelwahab, Nehal Hassib, Raphael Schiffmann, Emory Ryan

Mol Genet Metab· November 2021

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Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
Richard Sam, Emory Ryan, Emily Daykin, Ellen Sidransky

Expert Opin Pharmacother· August 2021

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Gaucher Disease and Heart Failure of Unknown Origin.
Emory Ryan, My-Le Nguyen, Grisel Lopez, Kathleen Mitchell, Margaret Lowery

Am J Med· June 2021

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Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown.
Edward I Ginns, Emory Ryan, Ellen Sidransky

Mol Genet Metab· April 2021

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Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Emily C Daykin, Emory Ryan, Ellen Sidransky

Mol Genet Metab· February 2021

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EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.
Chelsie N Poffenberger, Sara Inati, Nahid Tayebi, Barbara K Stubblefield, Emory Ryan

Mol Genet Metab· November 2020

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The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.
Tamanna Roshan Lal, Gurpreet K Seehra, Alta M Steward, Chelsie N Poffenberger, Emory Ryan

Neurology· October 2020

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Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.
Emory Ryan, Dominick Amato, Jennifer J MacKenzie, Ellen Sidransky, Grisel Lopez

Mov Disord Clin Pract· October 2020

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Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders.
Emory Ryan, Gurpreet Kaur Seehra, Ellen Sidransky

Mol Genet Metab· April 2020

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Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.
Grisel Lopez, Alta Steward, Emory Ryan, Catherine Groden, Edythe Wiggs

Mov Disord· February 2020

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Variation in cognitive function over time in Gaucher disease type 3.
Alta M Steward, Edythe Wiggs, Taylor Lindstrom, Somto Ukwuani, Emory Ryan

Neurology· December 2019

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GBA1-associated parkinsonism: new insights and therapeutic opportunities.
Emory Ryan, Gurpreet Seehra, Pankaj Sharma, Ellen Sidransky

Curr Opin Neurol· August 2019

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Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.
Gurpreet Seehra, Beth Solomon, Emory Ryan, Alta M Steward, Tamanna Roshan Lal

Mol Genet Metab· July 2019

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Recent advances in the diagnosis and management of Gaucher disease.
Sam E Gary, Emory Ryan, Alta M Steward, Ellen Sidransky

Expert Rev Endocrinol Metab· March 2018

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