檢索結果 - Amy Goldstein

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  1. 1
    A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy

    A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy 由 Amel Karaa, Richard Haas, Amy Goldstein, Jerry Vockley, Bruce H. Cohen

    出版 2020
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  2. 2
    Mitochondrial disorders

    Mitochondrial disorders 由 Shibani Kanungo, Jacob Morton, Mekala Neelakantan, Kevin Ching, Jasmine Saeedian, Amy Goldstein

    出版 2018
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  3. 3
    Endocrine Disorders in Primary Mitochondrial Disease

    Endocrine Disorders in Primary Mitochondrial Disease 由 Iman Al-Gadi, Richard Haas, Marni J. Falk, Amy Goldstein, Shana E. McCormack

    出版 2018
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  4. 4
    Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

    Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy 由 Amel Karaa, Richard Haas, Amy Goldstein, Jerry Vockley, W. Douglas Weaver, Bruce H. Cohen

    出版 2018
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  5. 5
    Revisiting mitochondrial diagnostic criteria in the new era of genomics

    Revisiting mitochondrial diagnostic criteria in the new era of genomics 由 Peter Witters, Ann Saada, Tomáš Honzík, Markéta Tesařová, Stephanie Kleinle, Rita Horváth, Amy Goldstein, Éva Morava

    出版 2017
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  6. 6
    <i>MT-ATP6</i>mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

    <i>MT-ATP6</i>mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases 由 Rebecca Ganetzky, Claudia Stendel, Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Amy Goldstein, Thomas Klopstock, Marni J. Falk

    出版 2019
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  7. 7
    Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS)

    Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS) 由 Rebecca Ganetzky, K. Stanley, Laura E. MacMullen, Ibrahim George‐Sankoh, Jing Wang, Amy Goldstein, Rui Xiao, Marni J. Falk

    出版 2025
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  8. 8
    BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy

    BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy 由 Rui Li, Hao Tang, Jeremy C. Burns, Brian T. Hopkins, Carole Le Coz, Bo Zhang, Isabella Peixoto de Barcelos, Neil Romberg, Amy Goldstein, Brenda Banwell, Eline T. Luning Prak, Michaël Mingueneau, Amit Bar‐Or

    出版 2022
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  9. 9
    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis 由 Fanny Kortüm, Soma Das, M. Flindt, Deborah J. Morris‐Rosendahl, Iliyana Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, A. Roumer, Sulagna C. Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanık, Kerstin Kutsche, William B. Dobyns

    出版 2011
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  10. 10
    Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

    Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial 由 Melanie B. Gillingham, Stephen B. Heitner, Julie Martin, Sarah Rose, Amy Goldstein, Areeg El‐Gharbawy, Stephanie J. DeWard, Michael Lasarev, Jim Pollaro, James P. DeLany, Luke J. Burchill, Bret H. Goodpaster, James D. Shoemaker, Dietrich Matern, Cary O. Harding, Jerry Vockley

    出版 2017
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  11. 11
    Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

    Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy 由 Karen L. Madsen, Astrid Emilie Buch, Bruce H. Cohen, Marni J. Falk, Angela Goldsberry, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Colleen Muraresku, Colin J. Meyer, Megan O’Grady, Fernando Scaglia, Perry B. Shieh, Jerry Vockley, Zarazuela Zolkipli‐Cunningham, Ronald G. Haller, John Vissing

    出版 2020
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  12. 12
    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... 由 Margaret A. Gustafson, Elizabeth M. McCormick, L. Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew C. Dulik, Li Shen, Amy Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz‐González, Meredith G. Ellington, William C. Copeland, Marni J. Falk

    出版 2019
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  13. 13
    A recurrent de novo missense mutation in UBTF causes developmental neuroregression

    A recurrent de novo missense mutation in UBTF causes developmental neuroregression 由 Camilo Toro, Roderick Hori, May Christine V. Malicdan, Cynthia J. Tifft, Amy Goldstein, William A. Gahl, David R. Adams, Harper B Fauni, Lynne A. Wolfe, Jianfeng Xiao, Mohammad Moshahid Khan, Jun Tian, Kevin A. Hope, Lawrence T. Reiter, Michel G. Tremblay, Tom Moss, Alexis L. Franks, Chris Balak, Mark S. LeDoux

    出版 2017
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  14. 14
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society 由 Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro

    出版 2014
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  15. 15
    Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

    Diagnosis of ‘possible’ mitochondrial disease: an existential crisis 由 Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Bertini, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, Ryan L. Davis, Marni J. Falk, Carl Fratter, Rita Horváth, Mary Kay Koenig, M. Mancuso, Shana E. McCormack, Elizabeth M. McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah E. Steele, Silvia Stockler, Carolyn M. Sue, Mark A. Tarnopolsky, David R. Thorburn, Jerry Vockley, Shamima Rahman

    出版 2019
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  16. 16
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study 由 Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    出版 2015
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  17. 17
    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base 由 Kathryn Camp, Danuta Krotoski, Melissa A. Parisi, Katrina Gwinn, Bruce H. Cohen, Christine Cox, Gregory M. Enns, Marni J. Falk, Amy Goldstein, Rashmi Gopal-Srivastava, Gráinne S. Gorman, Stephen P. Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin MacLeod, Robert McFarland, Charles Mohan, Andrew E. Mulberg, Joanne Odenkirchen, Sumit Parikh, Patricia J. Rutherford, Shawne K. Suggs-Anderson, W.H. Wilson Tang, Jerry Vockley, Lynne A. Wolfe, Steven Yannicelli, Philip E. Yeske, Paul M. Coates

    出版 2016
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  18. 18
    Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

    Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant 由 Nataliya Di Donato, Ying Y. Jean, A. Murat Maga, Briana D. Krewson, Alison B. Shupp, Maria I. Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A. Willert, Agnieszka M. Czaja, Rachel M. Johnson, Jessi A. Stover, Steven M. Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A. Aldinger, Ghayda Mirzaa, Anke M. Nissen, Karlla W. Brigatti, Erik G. Puffenberger, Kathleen J. Millen, Kevin A. Strauss, William B. Dobyns, Carol M. Troy, Robert N. Jinks

    出版 2016
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  19. 19
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society 由 Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    出版 2017
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  20. 20
    Mitochondrial diseases in North America

    Mitochondrial diseases in North America 由 Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli‐Cunningham, Marni J. Falk, Amy Goldstein, Mark A. Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano

    出版 2020
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