Hasil Pencarian - Forbes D Porter
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Malformation syndromes caused by disorders of cholesterol synthesis oleh Forbes D. Porter, Gail E. Herman
Diterbitkan 2011-01-01
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Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model oleh Melissa R. Pergande, Antony Cougnoux, Rathnayake A. C. Rathnayake, Forbes D. Porter, Stephanie M. Cologna
Diterbitkan 2019-03-01
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An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene oleh Rong Li, Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D. Porter, Wei Zheng
Diterbitkan 2020-04-01
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Intracellular sphingosine releases calcium from lysosomes oleh Doris Höglinger, Per Haberkant, Auxiliadora Aguilera-Romero, Howard Riezman, Forbes D Porter, Frances M Platt, Antony Galione, Carsten Schultz
Diterbitkan 2015-11-01
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Swallowing characterization of adult-onset Niemann-Pick, type C1 patients oleh Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter
Diterbitkan 2024-06-01
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Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1 oleh Julia Yerger, Antony C. Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley, Forbes D. Porter, Cristin D. Davidson
Diterbitkan 2022-04-01
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Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology oleh Niamh X. Cawley, Anna T. Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A. Wassif, Joan E. Bailey-Wilson, Forbes D. Porter
Diterbitkan 2022-05-01
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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process oleh Chao Wang, Samantha M. Scott, Kanagaraj Subramanian, Salvatore Loguercio, Pei Zhao, Darren M. Hutt, Nicole Y. Farhat, Forbes D. Porter, William E. Balch
Diterbitkan 2019-11-01
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A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid oleh Rohini Sidhu, Hui Jiang, Nicole Y. Farhat, Nuria Carrillo-Carrasco, Myra Woolery, Elizabeth Ottinger, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Diterbitkan 2015-06-01
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Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella oleh Antony Cougnoux, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Kyle Martin, Fatemeh Navid, James Iben, Christopher A. Wassif, Niamh X. Cawley, Forbes D. Porter
Diterbitkan 2020-07-01
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Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1 oleh Meghann W. Lau, Ryan W. Lee, Robin Miyamoto, Eun Sol Jung, Nicole Yanjanin Farhat, Shoko Yoshida, Susumu Mori, Andrea Gropman, Eva H. Baker, Forbes D. Porter
Diterbitkan 2016-09-01
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Sterol O-Acyltransferase 1 (<i>SOAT1</i>): A Genetic Modifier of Niemann-Pick Disease, Type C1 oleh Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter
Diterbitkan 2024-04-01
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Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1 oleh Kyle B. Martin, Ian M. Williams, Celine V. Cluzeau, Antony Cougnoux, Ryan K. Dale, James R. Iben, Niamh X. Cawley, Christopher A. Wassif, Forbes D. Porter
Diterbitkan 2019-12-01
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Phenotypic expression of swallowing function in Niemann–Pick disease type C1 oleh Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter
Diterbitkan 2022-09-01
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Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals oleh 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
Diterbitkan 2022-06-01
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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1 oleh 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
Diterbitkan 2024-08-01
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