EllenSidranskyMD

PubMed

• Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
  Emory Ryan, Samantha Nishimura, Grisel Lopez, Nahid Tayebi, Ellen Sidransky> ;American Journal of Medical Genetics. Part A. 2024 Apr 22
• Advancements in Viral Gene Therapy for Gaucher Disease.
  Akhil Kulkarni, Tiffany Chen, Tae-Un Han, Ellen Sidransky> ;Genes. 2024 Mar 15
• Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism.
  Ellen Hertz, Gani Perez, Ying Hao, Krystyna Rytel, Charis Ma, Martha Kirby, Stacie Anderson, Stephen Wincovitch, Kate Andersh, Tim Ahfeldt, Joel Blanchard, Grisel Lope...> ;Biorxiv. 2024 Feb 28
• A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
  Furderer, M., Berhe, B., Chen, T., Wincovitch, S., Jiang, X., Tayebi, N., Han, T., Sidransky, E.> ;International Journal of Molecular Sciences. 2024 Feb 2
• 1 citations
  Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson's Disease Research.
  Jong, T., Gehrlein, A., Jagasia, R., Chen, Y., Sidransky, E.> ;Journal of Parkinson's Disease. 2024 Jan 1
• New tools can propel research in lysosomal storage diseases.
  Ellen Hertz, Logan M Glasstetter, Yu Chen, Ellen Sidransky> ;Molecular Genetics and Metabolism. 2023 Dec 1
• Is Gauchian genotyping ofvariants reliable?
  Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidransky> ;Medrxiv. 2023 Oct 26
• Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson Disease Research.
  Tiffany Jong, Alexandra Gehrlein, Ellen Sidransky, Ravi Jagasia, Yu Chen> ;Biorxiv. 2023 Sep 15
• 1 citations
  Neither alpha-synuclein-preformed fibrils derived from patients withmutations nor the host murine genotype significantly influence seeding efficacy in the mouse olfact...
  Sara Walton, Alexis Fenyi, Tyler Tittle, Ellen Sidransky, Gian Pal, Solji Choi, Ronald Melki, Bryan A Killinger, Jeffrey H Kordower> ;Biorxiv. 2023 Aug 25
• Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.
  Emory Ryan, Nahid Tayebi, Andrea D'Souza, Grisel Lopez, Jens Lichtenberg, Ellen Sidransky> ;American Journal of Medical Genetics. Part A. 2023 Oct 1
• Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease.
  Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky> ;Journal of Movement Disorders. 2023 Sep 1
• 4 citations
  Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct.
  Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, ...> ;Nature Communications. 2023 Apr 12
• 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, Ozlem Goker-Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• 5 citations
  Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
  Cornelis Blauwendraat, Nahid Tayebi, Elizabeth Geena Woo, Grisel Lopez, Luca Fierro, Marco Toffoli, Naomi Limbachiya, Derralynn Hughes, Vanessa Pitz, Dhairya Patel, Da...> ;Movement Disorders. 2023 May 1
• Technological advances expand our knowledge of lysosomal dysfunction in neurodegeneration.
  Chase Chen, Yu Chen, Ellen Sidransky> ;Neural Regeneration Research. 2023 Mar 1
• 1 citations
  Targeting protein clearance pathways in-associated Parkinson disease.
  Chase Chen, Ellen Hertz, Yu Chen, Ellen Sidransky> ;Expert Opinion on Therapeutic Targets. 2022 Dec 1
• 1 citations
  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, Ellen Sidransky, Grisel Lopez, Donald W Hadley> ;Journal of Genetic Counseling. 2023 Jun 1
• Facial features of lysosomal storage disorders.
  Andrea D'Souza, Emory Ryan, Ellen Sidransky> ;Expert Review of Endocrinology & Metabolism. 2022 Nov 1
• Reply to: "Overlapping Ranges in Levels Indicate That Hexosylsphingosine Is Not a Clinically Relevant Biomarker for GBA1-Associated Parkinson's Disease".
  Adenrele M Gleason, Nahid Tayebi, Grisel J Lopez, Ellen Sidransky> ;Movement Disorders. 2022 Aug 1
• 9 citations
  Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
  Makaila L Furderer, Ellen Hertz, Grisel J Lopez, Ellen Sidransky> ;International Journal of Molecular Sciences. 2022 May 23
• CRISPR/Cas9-Based Functional Genomics in Human Induced Pluripotent Stem Cell-Derived Models: Can "the Stars Align" for Neurodegenerative Diseases?
  Yu Chen, Tiffany Ting-Yu Jong, Chase Chen, Ellen Sidransky> ;Movement Disorders. 2022 May 1
• 4 citations
  Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction.
  Chase Chen, Ellen Sidransky, Yu Chen> ;Biomolecules. 2022 Apr 21
• 4 citations
  No Evidence That Glucosylsphingosine Is a Biomarker for Parkinson's Disease: Statistical Differences Do Not Necessarily Indicate Biological Significance.
  Adenrele Gleason, Nahid Tayebi, Grisel Lopez, Ellen Sidransky> ;Movement Disorders. 2022 Mar 1
• 37 citations
  Lysosomal dysfunction in neurodegeneration: emerging concepts and methods.
  Vinod Udayar, Yu Chen, Ellen Sidransky, Ravi Jagasia> ;Trends in Neurosciences. 2022 Mar 1
• 2 citations
  Longitudinal evaluation of olfactory function in individuals with Gaucher disease andmutation carriers with and without Parkinson's disease.
  Grisel J Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L Lecker, Ellen Sidransky> ;Frontiers in Neurology. 2022 Jan 1
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