Hasil Pencarian - Mary Kay Koenig

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  1. 1
    Expanded‐access use of elamipretide in a patient with membrane protein‐associated neurodegeneration

    Expanded‐access use of elamipretide in a patient with membrane protein‐associated neurodegeneration oleh Jorge Patino, Anna Haertling Clearman, Lindsey Miller, Mary Kay Koenig

    Diterbitkan 2024-07-01
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  2. 2
    A new pathogenic POLG variant

    A new pathogenic POLG variant oleh S. Nicholas Russo, Ekta G. Shah, William C. Copeland, Mary Kay Koenig

    Diterbitkan 2022-09-01
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  3. 3
    Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]

    Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890] oleh S. Nicholas Russo, Ekta G. Shah, William C. Copeland, Mary Kay Koenig

    Diterbitkan 2023-03-01
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  4. 4
    Mitochondrial Disorder Aggravated by Metoprolol

    Mitochondrial Disorder Aggravated by Metoprolol oleh Cheryl Samuels, Mary Kay Koenig, Mariana Hernandez, Aravind Yadav, Ricardo A. Mosquera

    Diterbitkan 2016-01-01
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  5. 5
    Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

    Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family oleh Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup

    Diterbitkan 2020-07-01
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  6. 6
    Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

    Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases oleh Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk

    Diterbitkan 2023-01-01
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  7. 7
    Sleep Disordered Breathing in Children with Mitochondrial Disease

    Sleep Disordered Breathing in Children with Mitochondrial Disease oleh Ricardo A. Mosquera, Mary Kay Koenig, Rahmat B. Adejumo, Justyna Chevallier, S. Shahrukh Hashmi, Sarah E. Mitchell, Susan E. Pacheco, Cindy Jon

    Diterbitkan 2014-01-01
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  8. 8
    Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial

    Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial oleh John M. Slopis, Octavio Arevalo, Cynthia S. Bell, Adelaide A. Hebert, Hope Northrup, Roy F. Riascos, Joshua A. Samuels, Keri C. Smith, Patti Tate, Mary Kay Koenig

    Diterbitkan 2018-10-01
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  9. 9
    Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

    Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations oleh Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Diterbitkan 2019-07-01
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  10. 10
    Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results

    Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results oleh Jamie K. Capal, David M. Ritter, David Neal Franz, Molly Griffith, Kristn Currans, Bridget Kent, E. Martina Bebin, Hope Northrup, Mary Kay Koenig, Tomoyuki Mizuno, Alexander A. Vinks, Stephanie L. Galandi, Wujuan Zhang, Kenneth D.R. Setchell, Kelly M. Kremer, Carlos M. Prada, Hansel M. Greiner, Katherine Holland‐Bouley, Paul S. Horn, Darcy A. Krueger

    Diterbitkan 2024-06-01
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  11. 11
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia oleh Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

    Diterbitkan 2017-06-01
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  12. 12
    Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

    Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts oleh Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen

    Diterbitkan 2023-07-01
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