Not logged in Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals Mistry, Pramod K.; Cassiman, David; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Wasserstein, Melissa P.; Thurberg, Beth L.; Foster, Meredith C.; Patel, Reema M.; Underhill, Lisa H.; Peterschmitt, M. Judith Share Save
Biologically defined neuronal synuclein disease as a tool to advance drug development Pagano, Gennaro; Dam, Tien; Kerchner, Geoffrey A.; Galpern, Wendy R.; Biagioni, Milton; Karan, Rajesh; Jennings, Danna; Peterschmitt, M. Judith; Nikolcheva, Tania; Brundin, Patrik Share Save
Accelerating Parkinson's Disease drug development with federated learning approaches Khanna, Amit; Adams, Jamie; Antoniades, Chrystalina; Bloem, Bastiaan R.; Carroll, Camille; Cedarbaum, Jesse; Cosman, Joshua; Dexter, David T.; Dockendorf, Marissa F.; Edgerton, Jeremy; Gaetano, Laura; Goikoetxea, Erkuden; Hill, Derek; Horak, Fay; Izmailova, Elena S.; Kangarloo, Tairmae; Katabi, Dina; Kopil, Catherine; Lindemann, Michael; Mammen, Jennifer; Marek, Kenneth; Mcfarthing, Kevin; Mirelman, Anat; Muller, Martijn; Pagano, Gennaro; Peterschmitt, M. Judith; Ren, Jie; Rochester, Lynn; Sardar, Sakshi; Siderowf, Andrew; Simuni, Tanya; Stephenson, Diane; Swanson-Fischer, Christine; Wagner, John A.; Jones, Graham B. Share Save
Disease progression strikingly differs in research and real-world Parkinson's populations Beaulieu-Jones, Brett K.; Frau, Francesca; Bozzi, Sylvie; Chandross, Karen J.; Peterschmitt, M. Judith; Cohen, Caroline; Coulovrat, Catherine; Kumar, Dinesh; Kruger, Mark J.; Lipnick, Scott L.; Fitzsimmons, Lane; Kohane, Isaac S.; Scherzer, Clemens R. Share Save
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Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial Schiffmann, Raphael; Cox, Timothy M.; Dedieu, Jean-Francois; Gaemers, Sebastiaan J. M.; Hennermann, Julia B.; Ida, Hiroyuki; Mengel, Eugen; Minini, Pascal; Mistry, Pramod; Musholt, Petra B.; Scott, David; Sharma, Jyoti; Peterschmitt, M. Judith Share Save
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial Peterschmitt, M. Judith; Saiki, Hidemoto; Hatano, Taku; Gasser, Thomas; Isaacson, Stuart H.; Gaemers, Sebastiaan J. M.; Minini, Pascal; Saubadu, Stephane; Sharma, Jyoti; Walbillic, Samantha; Alcalay, Roy N.; Cutter, Gary; Hattori, Nobutaka; Hoeglinger, Gunter U.; Marek, Kenneth; Schapira, Anthony H., V; Scherzer, Clemens R.; Simuni, Tanya; Giladi, Nir; Sardi, Sergio Pablo; Fischer, Tanya Z. Share Save
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Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials Cassiman, David; Mistry, Pramod K.; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Thurberg, Beth L.; Wasserstein, Melissa P.; Foster, Meredith C.; Patel, Reema M.; Ribes, Manuel; Underhill, Lisa H.; Peterschmitt, M. Judith Share Save
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma Ramaswami, Uma; Mengel, Eugen; Berrah, Abdelkrim; AlSayed, Moeenaldeen; Broomfield, Alex; Donald, Aimee; El Dein, Hadeel M. Seif; Freisens, Selena; Hwu, Wuh-Liang; Peterschmitt, M. Judith; Yoo, Han-Wook; Abdelwahab, Magy Share Save
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma P.; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith Share Save
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Oral venglustat in Parkinson disease patients with a GBA mutation: Study design of part 2 of the MOVES-PD trial and patient characteristics Peterschmitt, M. Judith; Gurevich, Tanya; Gasser, Thomas; Saiki, Hidemoto; Isaacson, Stuart; Waters, Cheryl; Wills, Anne-Marie; Hassin-Baer, Sharon; Simuni, Tanya; Gaemers, Sebastiaan J. M.; Sardi, S. Pablo; Saubadu, Stephane; Minini, Pascal; Fischer, Tanya Share Save
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A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat Abrams, Ruth; Kaddi, Chanchala D.; Tao, Mengdi; Leiser, Randolph J.; Simoni, Giulia; Reali, Federico; Tolsma, John; Jasper, Paul; van Rijn, Zachary; Li, Jing; Niesner, Bradley; Barrett, Jeffrey S.; Marchetti, Luca; Peterschmitt, M. Judith; Azer, Karim; Neves-Zaph, Susana Share Save
Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents Thibault, Nathan; Ibrahim, Jennifer; Peterschmitt, M. Judith; Puga, Ana Cristina; Ross, Leorah; Vu, Lucie; Xue, Yong; Turpault, Sandrine Share Save
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