Works matching Gaucher disease and genetics

Results: 130
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    Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.

    Published in:
    Movement Disorders, 2023, v. 38, n. 5, p. 899, doi. 10.1002/mds.29342
    By:
    • Blauwendraat, Cornelis;
    • Tayebi, Nahid;
    • Woo, Elizabeth Geena;
    • Lopez, Grisel;
    • Fierro, Luca;
    • Toffoli, Marco;
    • Limbachiya, Naomi;
    • Hughes, Derralynn;
    • Pitz, Vanessa;
    • Patel, Dhairya;
    • Vitale, Dan;
    • Koretsky, Mathew J.;
    • Hernandez, Dena;
    • Real, Raquel;
    • Alcalay, Roy N.;
    • Nalls, Mike A.;
    • Morris, Huw R.;
    • Schapira, Anthony H.V.;
    • Balwani, Manisha;
    • Sidransky, Ellen
    Publication type:
    Article
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    Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
    By:
    • Yildiz, Yildiz;
    • Hoffmann, Per;
    • Dahl, Stefan vom;
    • Breiden, Bernadette;
    • Sandhoff, Roger;
    • Niederau, Claus;
    • Horwitz, Mia;
    • Karlsson, Stefan;
    • Filocamo, Mirella;
    • Elstein, Deborah;
    • Beck, Michael;
    • Sandhoff, Konrad;
    • Mengel, Eugen;
    • Gonzalez, Maria C.;
    • Nöthen, Markus M.;
    • Sidransky, Ellen;
    • Zimran, Ari;
    • Mattheisen, Manuel
    Publication type:
    Article
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    Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.

    Published in:
    Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
    By:
    • Puri, Ratna Dua;
    • Kapoor, Seema;
    • Kishnani, Priya S.;
    • Dalal, Ashwin;
    • Gupta, Neerja;
    • Muranjan, Mamta;
    • Phadke, Shubha R.;
    • Sachdeva, Anupam;
    • Verma, Ishwar C.;
    • Mistry, Pramod K.;
    • Gaucher Disease Task Force
    Publication type:
    Article
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    Genetic characterization of the Albanian Gaucher disease patient population.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 52, doi. 10.1002/jmd2.12167
    By:
    • Cullufi, Paskal;
    • Tabaku, Mirela;
    • Velmishi, Virtut;
    • Gjikopulli, Agim;
    • Tomori, Sonila;
    • Dervishi, Ermira;
    • Tako, Aferdita;
    • Leubauer, Anika;
    • Westenberger, Ana;
    • Cozma, Claudia;
    • Beetz, Christian;
    • Bauer, Peter;
    • Wirth, Stefan;
    • Rolfs, Arndt
    Publication type:
    Article
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    Gaucher disease in Mexico. Epidemiologic overview.

    Published in:
    Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 277
    By:
    • Carbajal-Rodriguez, Luis;
    • Voirol-Garcia, Aitana;
    • Mora-Magaña, Ignacio;
    • Rodriguez-Herrera, Raymundo;
    • Zarco-Roman, Jorge
    Publication type:
    Article
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    Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-58340-1
    By:
    • Dobert, Jan Philipp;
    • Schäfer, Jan-Hannes;
    • Dal Maso, Thomas;
    • Ravindran, Priyadarshini;
    • Huard, Dustin J. E.;
    • Socher, Eileen;
    • Schildmeyer, Lisa A.;
    • Lieberman, Raquel L.;
    • Versées, Wim;
    • Moeller, Arne;
    • Zunke, Friederike;
    • Arnold, Philipp
    Publication type:
    Article
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    A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.

    Published in:
    Journal of Neuroscience, 2016, v. 38, n. 28, p. 7441, doi. 10.1523/JNEUROSCI.0636-16.2016
    By:
    • Aflaki, Elma;
    • Borger, Daniel K.;
    • Moaven, Nima;
    • Stubblefield, Barbara K.;
    • Rogers, Steven A.;
    • Patnaik, Samarjit;
    • Schoenen, Frank J.;
    • Westbroek, Wendy;
    • Wei Zheng;
    • Sullivan, Patricia;
    • Fujiwara, Hideji;
    • Sidhu, Rohini;
    • Khaliq, Zayd M.;
    • Fopez, Grisel J.;
    • Goldstein, David S.;
    • Ory, Daniel S.;
    • Marugan, Juan;
    • Sidransky, Ellen
    Publication type:
    Article
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    β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration.

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 15, p. 2343, doi. 10.3390/cells11152343
    By:
    • Lunghi, Giulia;
    • Carsana, Emma Veronica;
    • Loberto, Nicoletta;
    • Cioccarelli, Laura;
    • Prioni, Simona;
    • Mauri, Laura;
    • Bassi, Rosaria;
    • Duga, Stefano;
    • Straniero, Letizia;
    • Asselta, Rosanna;
    • Soldà, Giulia;
    • Di Fonzo, Alessio;
    • Frattini, Emanuele;
    • Magni, Manuela;
    • Liessi, Nara;
    • Armirotti, Andrea;
    • Ferrari, Elena;
    • Samarani, Maura;
    • Aureli, Massimo
    Publication type:
    Article
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