A differential proteomics study of cerebrospinal fluid from individuals with Niemann‐Pick disease, Type C1
Li, Wenping, Pergande, Melissa R., Crutchfield, Christopher A., Searle, Brian C., Backlund, Peter S., Picache, Jaqueline A., Burkert, Kathryn, Yanjanin‐Farhat, Nicole M., Blank, Paul S., Toth, Cynthia L., Wassif, Christopher A., Porter, Forbes D., Cologna, Stephanie M.
Published in Proteomics (Weinheim) (01.06.2023)
Published in Proteomics (Weinheim) (01.06.2023)
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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention
Cougnoux, Antony, Drummond, Rebecca A, Collar, Amanda L, Iben, James R, Salman, Alexander, Westgarth, Harrison, Wassif, Christopher A, Cawley, Niamh X, Farhat, Nicole Y, Ozato, Keiko, Lionakis, Michail S, Porter, Forbes D
Published in Human molecular genetics (15.06.2018)
Published in Human molecular genetics (15.06.2018)
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Journal Article
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1
Agrawal, Neena, Farhat, Nicole Y., Sinaii, Ninet, Do, An Dang, Xiao, Changrui, Berry-Kravis, Elizabeth, Bianconi, Simona, Masvekar, Ruturaj, Bielekova, Bibiana, Solomon, Beth, Porter, Forbes D.
Published in Genetics in medicine (01.03.2023)
Published in Genetics in medicine (01.03.2023)
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Journal Article
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Solomon, Beth I, Muñoz, Andrea M, Sinaii, Ninet, Mohamed, Hibaaq, Farhat, Nicole M, Alexander, Derek, Do, An Dang, Porter, Forbes D
Published in Orphanet journal of rare diseases (11.06.2024)
Published in Orphanet journal of rare diseases (11.06.2024)
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Journal Article
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process
Wang, Chao, Scott, Samantha M., Subramanian, Kanagaraj, Loguercio, Salvatore, Zhao, Pei, Hutt, Darren M., Farhat, Nicole Y., Porter, Forbes D., Balch, William E.
Published in Nature communications (07.11.2019)
Published in Nature communications (07.11.2019)
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Journal Article
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Jiang, Xuntian, Sidhu, Rohini, Mydock-McGrane, Laurel, Hsu, Fong-Fu, Covey, Douglas F, Scherrer, David E, Earley, Brian, Gale, Sarah E, Farhat, Nicole Y, Porter, Forbes D, Dietzen, Dennis J, Orsini, Joseph J, Berry-Kravis, Elizabeth, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E, Ory, Daniel S
Published in Science translational medicine (04.05.2016)
Published in Science translational medicine (04.05.2016)
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Journal Article
Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1
Farhat, Nicole Y, Alexander, Derek, McKee, Kyli, Iben, James, Rodriguez-Gil, Jorge L, Wassif, Christopher A, Cawley, Niamh X, Balch, William E, Porter, Forbes D
Published in International journal of molecular sciences (01.04.2024)
Published in International journal of molecular sciences (01.04.2024)
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Journal Article
A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid
Sidhu, Rohini, Jiang, Hui, Farhat, Nicole Y., Carrillo-Carrasco, Nuria, Woolery, Myra, Ottinger, Elizabeth, Porter, Forbes D., Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Published in Journal of lipid research (01.06.2015)
Published in Journal of lipid research (01.06.2015)
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Journal Article
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history
Bianconi, Simona E., Hammond, Dylan I., Farhat, Nicole Y., Dang Do, An, Jenkins, Kisha, Cougnoux, Antony, Martin, Kyle, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots
Jiang, Xuntian, Sidhu, Rohini, Orsini, Joseph J., Farhat, Nicole Y., Porter, Forbes D., Berry-Kravis, Elizabeth, Schaffer, Jean E., Ory, Daniel S.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
Cawley, Niamh X., Giddens, Spencer, Farhat, Nicole M., Luke, Rachel A., Scott, Katelin E.J., Mohamed, Hibaaq O., Dang Do, An, Berry-Kravis, Elizabeth, Cologna, Stephanie M., Liu, Fang, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
Phenotypic expression of swallowing function in Niemann-Pick disease type C1
Solomon, Beth I, Muñoz, Andrea M, Sinaii, Ninet, Farhat, Nicole M, Smith, Andrew C, Bianconi, Simona, Dang Do, An, Backman, Michael C, Machielse, Leonza, Porter, Forbes D
Published in Orphanet journal of rare diseases (05.09.2022)
Published in Orphanet journal of rare diseases (05.09.2022)
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Journal Article
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Baxter, Laura L., Watkins-Chow, Dawn E., Johnson, Nicholas L., Farhat, Nicole Y., Platt, Frances M., Dale, Ryan K., Porter, Forbes D., Pavan, William J., Rodriguez-Gil, Jorge L.
Published in Scientific reports (09.02.2022)
Published in Scientific reports (09.02.2022)
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Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics
Rodriguez-Gil, Jorge L, Baxter, Laura L, Watkins-Chow, Dawn E, Johnson, Nicholas L, Davidson, Cristin D, Carlson, Steven R, Incao, Arturo A, Wallom, Kerri L, Farhat, Nicole Y, Platt, Frances M, Dale, Ryan K, Porter, Forbes D, Pavan, William J
Published in Human molecular genetics (30.11.2021)
Published in Human molecular genetics (30.11.2021)
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Journal Article
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Vite, Charles H., Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M., Bodamer, Olaf, Wang, Raymond Y., Plummer, Ellen, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Published in Molecular genetics and metabolism (01.04.2020)
Published in Molecular genetics and metabolism (01.04.2020)
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Journal Article
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1
Maarup, Timothy J., Chen, Agnes H., Porter, Forbes D., Farhat, Nicole Y., Ory, Daniel S., Sidhu, Rohini, Jiang, Xuntian, Dickson, Patricia I.
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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Journal Article
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J., Farhat, Nicole Y., Do, An Ngoc Dang, Porter, Forbes D., Berry-Kravis, Elizabeth, Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M., Wang, Raymond Y., Movsesyan, Nina, Plummer, Ellen, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Published in Molecular genetics and metabolism (01.12.2020)
Published in Molecular genetics and metabolism (01.12.2020)
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Journal Article
Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model
Cougnoux, Antony, Movassaghi, Miyad, Picache, Jaqueline A., Iben, James R., Navid, Fatemeh, Salman, Alexander, Martin, Kyle, Farhat, Nicole Y., Cluzeau, Celine, Tseng, Wei-Chia, Burkert, Kathryn, Sojka, Caitlin, Wassif, Christopher A., Cawley, Niamh X., Bonnet, Richard, Porter, Forbes D.
Published in Digestive diseases and sciences (01.04.2018)
Published in Digestive diseases and sciences (01.04.2018)
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Journal Article
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
Ory, Daniel S, Ottinger, Elizabeth A, Farhat, Nicole Yanjanin, King, Kelly A, Jiang, Xuntian, Weissfeld, Lisa, Berry-Kravis, Elizabeth, Davidson, Cristin D, Bianconi, Simona, Keener, Lee Ann, Rao, Ravichandran, Soldatos, Ariane, Sidhu, Rohini, Walters, Kimberly A, Xu, Xin, Thurm, Audrey, Solomon, Beth, Pavan, William J, Machielse, Bernardus N, Kao, Mark, Silber, Steven A, McKew, John C, Brewer, Carmen C, Vite, Charles H, Walkley, Steven U, Austin, Christopher P, Porter, Forbes D
Published in The Lancet (British edition) (14.10.2017)
Published in The Lancet (British edition) (14.10.2017)
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Journal Article
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1
Campbell, Kiersten, Cawley, Niamh X, Luke, Rachel, Scott, Katelin E J, Johnson, Nicholas, Farhat, Nicole Y, Alexander, Derek, Wassif, Christopher A, Li, Wenping, Cologna, Stephanie M, Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K, Porter, Forbes D
Published in Biomarker research (31.01.2023)
Published in Biomarker research (31.01.2023)
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