Výsledky vyhledávání - Sarah Neuhaus

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  1. 1
    Four-dimensional trapped ion mobility spectrometry lipidomics for high throughput clinical profiling of human blood samples

    Four-dimensional trapped ion mobility spectrometry lipidomics for high throughput clinical profiling of human blood samples Autor Raissa Lerner, Dhanwin Baker, Claudia Schwitter, Sarah Neuhaus, Tony Hauptmann, Julia M. Post, Stefan Krämer, Laura Bîndilă

    Vydáno 2023
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  2. 2
    Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results

    Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results Autor Jerry R. Mendell, Eric R. Pozsgai, Sarah Lewis, Danielle A. Griffin, Linda Lowes, Lindsay N. Alfano, Kelly J. Lehman, Kathleen Church, Natalie F. Reash, M. Iammarino, Brenna Sabo, Rachael A. Potter, Sarah Neuhaus, Xiaoxi Li, Herb Stevenson, Louise R. Rodino‐Klapac

    Vydáno 2024
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  3. 3
    ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

    ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) Autor Xavière Lornage, Norma B. Romero, Claire A Grosgogeat, E. Malfatti, Sandra Donkervoort, Michael Mario Marchetti, Sarah Neuhaus, A. Reghan Foley, C. Labasse, Raphaël Schneider, Robert Carlier, Katherine R. Chao, Līvija Medne, Jean‐François Deleuze, David Orlikowski, Carsten G. Bönnemann, Vandana Gupta, Michel Fardeau, Johann Böhm, Jocelyn Laporte

    Vydáno 2019
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  4. 4
    250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

    250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands Autor Sarah Neuhaus, Carina Wallgren‐Pettersson, Carsten G. Bönnemann, Ulrike Schara, Laurent Servais, M. Annoussamy, Alan H. Beggs, Carsten G. Bönnemann, Stephanie Colquhoun, Niklas Darín, Jonne Doorduin, Gustavo Dziewczapolski, Teresinha Evangelista, Anam Ferreiro, Evam Michael, Cristiane Araújo Martins Moreno, Francina Munell, C R Park, Andreas Roos, Anna Sárközy, Ulrike Schara, Laurent Servais, Giorgio Tasca, Nicol C. Voermans, Carina Wallgren‐Pettersson

    Vydáno 2020
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  5. 5
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants Autor Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    Vydáno 2025
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  6. 6
    Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

    Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial Autor Perry B. Shieh, Nancy L. Kuntz, James J. Dowling, Wolfgang Müller‐Felber, Carsten G. Bönnemann, A. Seferian, Laurent Servais, Barbara K. Smith, Francesco Muntoni, Astrid Blaschek, A. Reghan Foley, D. Saade, Sarah Neuhaus, Lindsay N. Alfano, Alan H. Beggs, Ana Buj‐Bello, Martin K. Childers, Tina Duong, Robert J. Graham, Minal S. Jain, Julie Coats, Victoria MacBean, Emma James, Jun Lee, Fulvio Mavilio, Weston P. Miller, Fatbardha Varfaj, Michael Murtagh, Cong Han, Mojtaba Noursalehi, Michael W. Lawlor, Suyash Prasad, Salvador Rico

    Vydáno 2023
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  7. 7
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Autor Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R. Nickolls, Naemeh Pourshafie, Sarah Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E. Le Pichon, Chiara Fiorillo, Cindy V. Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Hélio Pedro, Eric Mittelmann, Florian P. Thomas, Katherine R. Chao, Chamindra G. Konersman, Megan T. Cho, Tracy Brandt, Volker Straub, Anne M. Connolly, Ulrike Schara, Andreas Roos, Mark A. Tarnopolsky, Ahmet Höke, Robert H. Brown, Chia‐Hsueh Lee, Thorsten Hornemann, Teresa Dunn, Carsten G. Bönnemann

    Vydáno 2021
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