Ryan E - Search Results

1

Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).

Ryan E, Nishimura S, Lopez G, Tayebi N, Sidransky E. Ryan E, et al. Am J Med Genet A. 2024 Sep;194(9):e63630. doi: 10.1002/ajmg.a.63630. Epub 2024 Apr 22. Am J Med Genet A. 2024. PMID: 38647370

2

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

Gleason AM, D'Souza A, Ryan E, Grochowsky AR, Carter CR, Goker-Alpan O, Lopez G, Tayebi N, Sidransky E. Gleason AM, et al. Among authors: ryan e. Am J Med Genet A. 2023 Jul;191(7):1783-1791. doi: 10.1002/ajmg.a.63202. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37042183

3

Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.

Ryan E, Tayebi N, D'Souza A, Lopez G, Lichtenberg J, Sidransky E. Ryan E, et al. Am J Med Genet A. 2023 Oct;191(10):2647-2650. doi: 10.1002/ajmg.a.63345. Epub 2023 Jul 14. Am J Med Genet A. 2023. PMID: 37449546

4

GBA1-associated parkinsonism: new insights and therapeutic opportunities.

Ryan E, Seehra G, Sharma P, Sidransky E. Ryan E, et al. Curr Opin Neurol. 2019 Aug;32(4):589-596. doi: 10.1097/WCO.0000000000000715. Curr Opin Neurol. 2019. PMID: 31188151 Review.

5

Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.

Lopez G, Steward A, Ryan E, Groden C, Wiggs E, Segalà L, Monestime GM, Tayebi N, Sidransky E. Lopez G, et al. Among authors: ryan e. Mov Disord. 2020 Feb;35(2):359-365. doi: 10.1002/mds.27916. Epub 2019 Nov 30. Mov Disord. 2020. PMID: 31785030

6

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.

Ryan E, Amato D, MacKenzie JJ, Sidransky E, Lopez G. Ryan E, et al. Mov Disord Clin Pract. 2020 Aug 17;7(7):834-837. doi: 10.1002/mdc3.13031. eCollection 2020 Oct. Mov Disord Clin Pract. 2020. PMID: 33043079 Free PMC article.

7

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.

Poffenberger CN, Inati S, Tayebi N, Stubblefield BK, Ryan E, Schiffmann R, Sidransky E, Lopez G. Poffenberger CN, et al. Among authors: ryan e. Mol Genet Metab. 2020 Nov;131(3):358-363. doi: 10.1016/j.ymgme.2020.10.010. Epub 2020 Oct 20. Mol Genet Metab. 2020. PMID: 33183916 Free PMC article.

8

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Daykin EC, Ryan E, Sidransky E. Daykin EC, et al. Among authors: ryan e. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9. Mol Genet Metab. 2021. PMID: 33483255 Free PMC article. Review.

9

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease.

Lopez GJ, Lichtenberg J, Tayebi N, Ryan E, Lecker AL, Sidransky E. Lopez GJ, et al. Among authors: ryan e. Front Neurol. 2022 Oct 18;13:1039214. doi: 10.3389/fneur.2022.1039214. eCollection 2022. Front Neurol. 2022. PMID: 36330429 Free PMC article.

10

An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.

Daykin EC, Poffenberger CN, Do J, Ryan E, Tayebi N, Sidransky E, Lopez G, Hadley DW. Daykin EC, et al. Among authors: ryan e. J Genet Couns. 2023 Jun;32(3):750-757. doi: 10.1002/jgc4.1677. Epub 2023 Jan 8. J Genet Couns. 2023. PMID: 36617666 Free PMC article.

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