يعرض 1 - 19 نتائج من 19 نتيجة بحث عن '"Williams, Hadis"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 1
    Academic Journal
    Pharmacokinetic evaluation of single-dose migalastat in non-Fabry disease subjects with ESRD receiving dialysis treatment, and use of modeling to select dose regimens in Fabry disease subjects with ESRD receiving dialysis treatment.

    المؤلفون: Johnson, Franklin K., Wu, Shirley, Schmith, Ginny, Williams, Hadis, Rutecki, Jasmine, Halabi, Atef, Feldkamp, Thorsten, Sileno, Anthony

    المصدر: PLoS ONE; 12/5/2024, Vol. 19 Issue 12, p1-23, 23p

    مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, CHRONIC kidney failure, LYSOSOMAL storage diseases, KIDNEY physiology, HEMODIAFILTRATION

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  2. 2
    Academic Journal
    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

    المؤلفون: Johnson, Franklin, Rutecki, Jasmine, Williams, Hadis, Wade, Alyson, Wu, Shirley, Schmith, Virginia, Yang, Haichen

    المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107904 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107904
    https://api.elsevier.com/content/article/PII:S1096719223005346?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719223005346?httpAccept=text/plain

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  3. 3
    Academic Journal
    SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE

    المؤلفون: Schiffmann, Raphael, Bichet, Daniel, Germain, Dominique, Giugliani, Roberto, Hughes, Derralynn, Nicholls, Kathleen, Wilcox, William, Williams, Hadis, Yu, Julie, Castelli, Jeffrey, Skuban, Nina, Barth, Jay

    المصدر: Nephrology Dialysis Transplantation ; volume 33, issue suppl_1, page i347-i348 ; ISSN 0931-0509 1460-2385

    الاتاحة: http://dx.doi.org/10.1093/ndt/gfy104.sp004
    http://academic.oup.com/ndt/article-pdf/33/suppl_1/i347/24823468/gfy104.sp004.pdf

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  4. 4
    Academic Journal
    Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

    المؤلفون: Mauer, Michael, Sokolovskiy, Alexey, Barth, Jay A, Castelli, Jeffrey P, Williams, Hadis N, Benjamin, Elfrida R, Najafian, Behzad

    مصطلحات موضوعية: Therapeutics

    وصف الملف: text/html

    Relation: http://jmg.bmj.com/cgi/content/short/54/11/781; http://dx.doi.org/10.1136/jmedgenet-2017-104826

    الاتاحة: http://jmg.bmj.com/cgi/content/short/54/11/781
    https://doi.org/10.1136/jmedgenet-2017-104826

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  5. 5
    Academic Journal
    The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

    المؤلفون: 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.

    المصدر: Genetics in Medicine ; volume 19, issue 4, page 430-438 ; ISSN 1098-3600

    الاتاحة: http://dx.doi.org/10.1038/gim.2016.122
    http://www.nature.com/articles/gim2016122.pdf
    http://www.nature.com/articles/gim2016122
    https://api.elsevier.com/content/article/PII:S1098360021024291?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1098360021024291?httpAccept=text/plain

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  6. 6
    Academic Journal
    Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): A phase III, randomized study (PROPEL)

    المؤلفون: 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

    المصدر: Molecular Genetics and Metabolism ; volume 135, issue 2, page S30 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2021.11.062
    https://api.elsevier.com/content/article/PII:S1096719221008805?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719221008805?httpAccept=text/plain

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  7. 7
    Academic Journal
    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

    المؤلفون: Nicholls, Kathleen, Olivotto, Iacopo, Ohashi, Toya, Williams, Hadis, Jain, Vipul, Skuban, Nina

    المصدر: Molecular Genetics and Metabolism ; volume 126, issue 2, page S108 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2018.12.272
    https://api.elsevier.com/content/article/PII:S1096719218310540?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719218310540?httpAccept=text/plain

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  8. 8
    Academic Journal
    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

    المؤلفون: Bichet, Daniel, Barth, Jay A., Williams, Hadis, Skuban, Nina

    المصدر: Molecular Genetics and Metabolism ; volume 126, issue 2, page S31 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2018.12.058
    https://api.elsevier.com/content/article/PII:S1096719218308400?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719218308400?httpAccept=text/plain

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  9. 9
    Academic Journal
    Ten years of migalastat treatment in a patient with Fabry disease: A case report

    المؤلفون: Swift, Caren, Schiffmann, Raphael, Williams, Hadis, Barth, Jay A., Skuban, Nina, Castelli, Jeffrey P.

    المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S138 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.378
    https://api.elsevier.com/content/article/PII:S1096719217311538?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719217311538?httpAccept=text/plain

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  10. 10
    Academic Journal
    Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastat

    المؤلفون: Najafian, Behzad, Sokolovskiy, Alexey, Barth, Jay, Castelli, Jeff, Williams, Hadis, Mauer, Michael

    المصدر: Molecular Genetics and Metabolism ; volume 117, issue 2, page S85 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2015.12.374
    https://api.elsevier.com/content/article/PII:S1096719215005594?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719215005594?httpAccept=text/plain

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  11. 11
    Academic Journal
    Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb3) in normal individuals and Fabry disease patients by liquid chromatography–tandem mass spectrometry (LC–MS/MS)

    المؤلفون: 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.

    المصدر: Molecular Genetics and Metabolism ; volume 114, issue 2, page S51 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2014.12.102
    https://api.elsevier.com/content/article/PII:S109671921400482X?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S109671921400482X?httpAccept=text/plain

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  12. 12
    Academic Journal
    Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide.

    المؤلفون: 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

    المساهمون: Departments of Neurology and Psychiatry, Alzheimer's Disease Research Center, Icahn School of Medicine at Mount Sinai New York (MSSM), Amicus Therapeutics, Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), Friedman Brain Institute, Mount Sinai, National Center for Geriatrics and Gerontology, Research Institute

    المصدر: ISSN: 0270-6474.

    مصطلحات موضوعية: MESH: Adult, MESH: Amyloid beta-Peptides, MESH: Immunohistochemistry, MESH: Infant, MESH: Lipid Metabolism, MESH: Lysosomes, MESH: Medulla Oblongata, MESH: Mice, Inbred C57BL, Knockout, MESH: Sandhoff Disease, MESH: Spinal Cord, MESH: Animals, MESH: Substantia Nigra, MESH: Young Adult, MESH: alpha-Synuclein, MESH: tau Proteins, MESH: Blotting, Western, MESH: Brain Chemistry, MESH: Child, Preschool, MESH: G(M2) Ganglioside, MESH: Gangliosides, MESH: Hexosaminidase B, MESH: Humans, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

    Relation: info:eu-repo/semantics/altIdentifier/pmid/22496568; hal-00724557; https://hal.science/hal-00724557; PUBMED: 22496568; PUBMEDCENTRAL: PMC6622109

    الاتاحة: https://hal.science/hal-00724557
    https://doi.org/10.1523/JNEUROSCI.4860-11.2012

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  13. 13
    Academic Journal
    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

    المؤلفون: 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

    المصدر: Alzheimer's & Dementia ; volume 8, issue 4S_Part_3 ; ISSN 1552-5260 1552-5279

    الاتاحة: http://dx.doi.org/10.1016/j.jalz.2012.05.270
    https://api.elsevier.com/content/article/PII:S1552526012004025?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1552526012004025?httpAccept=text/plain
    https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.jalz.2012.05.270
    https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2012.05.270
    https://onlinelibrary.wiley.com/doi/full-xml/10.1016/j.jalz.2012.05.270

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  14. 14
    Academic Journal
    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

    المؤلفون: 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

    المصدر: Alzheimer's & Dementia ; volume 8, issue 4S_Part_7 ; ISSN 1552-5260 1552-5279

    الاتاحة: http://dx.doi.org/10.1016/j.jalz.2012.05.644
    https://api.elsevier.com/content/article/PII:S1552526012007765?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1552526012007765?httpAccept=text/plain
    https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1016%2Fj.jalz.2012.05.644
    https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2012.05.644
    https://onlinelibrary.wiley.com/doi/full-xml/10.1016/j.jalz.2012.05.644

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  15. 15
    Academic Journal
    Lysosomal dysfunction in gangliosidoses results in secondary accumulation of proteins associated with neurodegeneration

    المؤلفون: Saksena, Suraj, Lun, Yi, Keilani, Serene, Williams, Hadis, Stevens, Anthony, Sjoberg, Eric, Khanna, Richie, Valenzano, Ken, Lockhart, David, Gandy, Sam, Wustman, Brandon

    المصدر: Molecular Genetics and Metabolism ; volume 102, issue 2, page S39 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2010.11.132
    https://api.elsevier.com/content/article/PII:S109671921000524X?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S109671921000524X?httpAccept=text/plain

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  16. 16
    Periodical
    Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLAmutations following 6 months of migalastat treatment

    المؤلفون: Mauer, Michael, Sokolovskiy, Alexey, Barth, Jay A, Castelli, Jeffrey P, Williams, Hadis N, Benjamin, Elfrida R, Najafian, Behzad

    المصدر: Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 11 p781-786, 6p


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  17. 17
    Academic Journal
    Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-ß Peptide.

    المؤلفون: 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

    المصدر: Journal of Neuroscience; 4/11/2012, Vol. 32 Issue 15, p5223-5236, 14p

    مصطلحات موضوعية: LYSOSOMAL storage diseases, ANIMAL models in research, BIOACCUMULATION, GANGLIOSIDES, AMYLOID, PEPTIDES, ETIOLOGY of Alzheimer's disease, SYNUCLEINS

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  18. 18
    Academic Journal
    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.

    المؤلفون: 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

    المصدر: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Jul2012 Supplement, Vol. 8 Issue s1, pP242-P242, 1p


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  19. 19
    Academic Journal
    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.

    المؤلفون: 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

    المصدر: Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Jul2012 Supplement, Vol. 8 Issue s1, pP105-P105, 1p


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