Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment
Mauer, Michael, Sokolovskiy, Alexey, Barth, Jay A, Castelli, Jeffrey P, Williams, Hadis N, Benjamin, Elfrida R, Najafian, Behzad
Published in Journal of medical genetics (01.11.2017)
Published in Journal of medical genetics (01.11.2017)
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Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide
Keilani, Serene, Lun, Yi, Stevens, Anthony C, Williams, Hadis N, Sjoberg, Eric R, Khanna, Richie, Valenzano, Kenneth J, Checler, Frederic, Buxbaum, Joseph D, Yanagisawa, Katsuhiko, Lockhart, David J, Wustman, Brandon A, Gandy, Sam
Published in The Journal of neuroscience (11.04.2012)
Published in The Journal of neuroscience (11.04.2012)
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Trial in progress: An open-label study (AT1001-025) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable GLA variants and severe renal impairment or end-stage renal disease treated with hemodialysis
Johnson, Franklin, Rutecki, Jasmine, Williams, Hadis, Wade, Alyson, Wu, Shirley, Schmith, Virginia, Yang, Haichen
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Trial in progress: An open-label study (AT1001-025) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable variants and severe renal impairment or end-stage renal disease treated with hemodialysis
Johnson, Franklin, Rutecki, Jasmine, Williams, Hadis, Wade, Alyson, Wu, Shirley, Schmith, Virginia, Yang, Haichen
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Benjamin, Elfrida R., Della Valle, Maria Cecilia, Wu, Xiaoyang, Katz, Evan, Pruthi, Farhana, Bond, Sarah, Bronfin, Benjamin, Williams, Hadis, Yu, Julie, Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn, Schiffmann, Raphael, Wilcox, William R., Desnick, Robert J., Kirk, John, Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Castelli, Jeff, Lockhart, David J.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Effect of long-term migalastat treatment on plasma globotriaosylsphingosine (lyso-Gb3) levels in patients with Fabry disease previously treated with enzyme replacement therapy: Results from ATTRACT and open-label extension studies
Bichet, Daniel, Barth, Jay A., Williams, Hadis, Skuban, Nina
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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The effects of long-term migalastat treatment in Fabry disease patients previously treated with enzyme replacement therapy who have migalastat-amenable variants with low alpha-galactosidase A response in the in vitro migalastat amenability assay
Nicholls, Kathleen, Olivotto, Iacopo, Ohashi, Toya, Williams, Hadis, Jain, Vipul, Skuban, Nina
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): A phase III, randomized study (PROPEL)
Chien, Yin-Hsiu, Benjamin, Elfrida, Schoser, Benedikt, Kishnani, Priya, Mozaffar, Tahseen, Díaz-Manera, Jordi, Johnson, Franklin, Das, Sheela Sitaraman, Nair, Anju, Williams, Hadis, Anderson, Eric, Mondick, John T., Sileno, Anthony
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE
Schiffmann, Raphael, Bichet, Daniel, Germain, Dominique, Giugliani, Roberto, Hughes, Derralynn, Nicholls, Kathleen, Wilcox, William, Williams, Hadis, Yu, Julie, Castelli, Jeffrey, Skuban, Nina, Barth, Jay
Published in Nephrology, dialysis, transplantation (01.05.2018)
Published in Nephrology, dialysis, transplantation (01.05.2018)
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Journal Article
Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastat
Najafian, Behzad, Sokolovskiy, Alexey, Barth, Jay, Castelli, Jeff, Williams, Hadis, Mauer, Michael
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb3) in normal individuals and Fabry disease patients by liquid chromatography–tandem mass spectrometry (LC–MS/MS)
Hamler, Rick, Brignol, Nastry, Boyd, Robert E., Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralyn A., Schiffmann, Raphael, Wilcox, William R., Williams, Hadis N., Yu, Julie, Barth, Jay, Castelli, Jeff, Valenzano, Kenneth J., Benjamin, Elfrida R.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Lysosomal dysfunction in gangliosidoses results in secondary accumulation of proteins associated with neurodegeneration
Saksena, Suraj, Lun, Yi, Keilani, Serene, Williams, Hadis, Stevens, Anthony, Sjoberg, Eric, Khanna, Richie, Valenzano, Ken, Lockhart, David, Gandy, Sam, Wustman, Brandon
Published in Molecular genetics and metabolism (01.02.2011)
Published in Molecular genetics and metabolism (01.02.2011)
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O2‐04‐05: A cell‐based model for presenilin 1 early‐onset familial Alzheimer's disease (EOFAD): Dominant negative effects and relative stabilities of presenilin 1 with EOFAD mutations
Stevens, Anthony, Collins, Carolyn, Katz, Evan, Lee, Gary, Alford, Vernon, Williams, Hadis, Guillen, Darlene, Wu, Xiaoyang, Flanagan, John, Sjoberg, Eric, Gandy, Sam, Lockhart, David J., Wustman, Brandon, Dungan, LB
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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A cell-based model for presenilin 1 early-onset familial Alzheimer's disease (EOFAD): Dominant negative effects and relative stabilities of presenilin 1 with EOFAD mutations
Stevens, Anthony, Collins, Carolyn, Katz, Evan, Lee, Gary, Alford, Vernon, Williams, Hadis, Guillen, Darlene, Wu, Xiaoyang, Flanagan, John, Sjoberg, Eric, Gandy, Sam, Lockhart, David J, Wustman, Brandon, Dungan, LB
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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O1‐11‐05: Pharmacological chaperones increase wild type presenilin 1 levels and promote the normalization of gamma‐secretase function in presenilin 1 early‐onset familial Alzheimer's disease models
Stevens, Anthony, Williams, Hadis, Collins, Carolyn, Mughal, Mohammed, Garcia, Anadina, Dungan, LB, Katz, Evan, Fascella, Michelle, Lee, Gary, Alford, Vernon, Zhu, Julia, Wu, Xiaoyang, Brignol, Nastry, Khanna, Richie, Sjoberg, Eric, Sam Gandy, Mattson, Mark, Lockhart, David J., Wustman, Brandon
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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Journal Article
Pharmacological chaperones increase wild type presenilin 1 levels and promote the normalization of gamma-secretase function in presenilin 1 early-onset familial Alzheimer's disease models
Stevens, Anthony, Williams, Hadis, Collins, Carolyn, Mughal, Mohammed, Garcia, Anadina, Dungan, LB, Katz, Evan, Fascella, Michelle, Lee, Gary, Alford, Vernon, Zhu, Julia, Wu, Xiaoyang, Brignol, Nastry, Khanna, Richie, Sjoberg, Eric, Sam Gandy, Mattson, Mark, Lockhart, David J, Wustman, Brandon
Published in Alzheimer's & dementia (01.07.2012)
Published in Alzheimer's & dementia (01.07.2012)
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