Search Results - Forbes D. Porter

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  1. 1

    Swallowing characterization of adult-onset Niemann-Pick, type C1 patients by Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter

    Published in Orphanet Journal of Rare Diseases (2024-06-01)
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  2. 2

    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

    Published in Rare (2025-01-01)
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  3. 3

    Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals by Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer

    Published in Biomarker Insights (2022-06-01)
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  4. 4

    Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1 by Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang

    Published in Journal of Lipid Research (2024-08-01)
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  5. 5

    Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus by Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri

    Published in BMC Genomics (2023-08-01)
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  6. 6

    Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model by Kristin Gabor, Emily V. Mesev, Jennifer Madenspacher, Julie Meacham, Prashant Rai, Sookjin Moon, Christopher A. Wassif, Saame Raza Shaikh, C.J. Tucker, Peer Karmaus, Simona Bianconi, Forbes D. Porter, Michael B. Fessler

    Published in The Journal of Clinical Investigation (2024-03-01)
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  7. 7

    Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease by Mark L. Schultz, Kylie J. Schache, Ruth D. Azaria, Esmée Q. Kuiper, Steven Erwood, Evgueni A. Ivakine, Nicole Y. Farhat, Forbes D. Porter, Koralege C. Pathmasiri, Stephanie M. Cologna, Michael D. Uhler, Andrew P. Lieberman

    Published in JCI Insight (2022-12-01)
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  8. 8

    Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” by Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter

    Published in Molecular Genetics and Metabolism Reports (2023-12-01)
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  9. 9

    Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency by Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter

    Published in Molecular Genetics and Metabolism Reports (2023-12-01)
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  10. 10

    Defective platelet function in Niemann‐Pick disease type C1 by Oscar C. W. Chen, Alexandria Colaco, Lianne C. Davis, Fedir N. Kiskin, Nicole Y. Farhat, Anneliese O. Speak, David A. Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C. Churchill, Antony Galione, Forbes D. Porter, Frances M. Platt

    Published in JIMD Reports (2020-11-01)
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  11. 11

    Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1 [version 2; peer review: 2 approved] by David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt

    Published in Wellcome Open Research (2023-04-01)
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  12. 12

    Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severi... by Eugen Mengel, Marc C. Patterson, Rosalia M. Da Riol, Mireia Del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Weller Grønborg, Paul Harmatz, Julia B. Hennermann, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Lisa LaGorio, Elizabeth Berry-Kravis, Forbes D. Porter, Beth Solomon, Louise Himmelstrup, Travis Mickle, Sven Guenther, Christine í Dali

    Published in Molecular Genetics and Metabolism Reports (2025-06-01)
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