Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sarah Neuhaus"'
Autor:
Raissa Lerner, Dhanwin Baker, Claudia Schwitter, Sarah Neuhaus, Tony Hauptmann, Julia M. Post, Stefan Kramer, Laura Bindila
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The circulatory lipidome is a valuable source for disease markers, but reliable marker discovery requires continuous development of lipidomic methods for large-scale clinical profiling. Here, the authors present a 4-dimensional lipidomics solution fo
Externí odkaz:
https://doaj.org/article/4a72fa19795646a6a08bccaaa7d37da0
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631
Autor:
James J, Dowling, Wolfgang, Müller-Felber, Barbara K, Smith, Carsten G, Bönnemann, Nancy L, Kuntz, Francesco, Muntoni, Laurent, Servais, Lindsay N, Alfano, Alan H, Beggs, Deborah A, Bilder, Astrid, Blaschek, Tina, Duong, Robert J, Graham, Minal, Jain, Michael W, Lawlor, Jun, Lee, Julie, Coats, Charlotte, Lilien, Linda P, Lowes, Victoria, MacBean, Sarah, Neuhaus, Mojtaba, Noursalehi, Teresa, Pitts, Caroline, Finlay, Sarah, Christensen, Gerrard, Rafferty, Andreea M, Seferian, Etsuko, Tsuchiya, Emma S, James, Weston, Miller, Bryan, Sepulveda, Maria Candida, Vila, Suyash, Prasad, Salvador, Rico, Perry B, Shieh
Supplementary Material: The supplementary material is available in the electronic version of this article: https://doi.org/10.3233/JND-210871. Copyright © 2022 The authors. Background X-linked myotubular myopathy (XLMTM) is a life-threatening congen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79d19b66f308abf8cb99baa6a14e7388
https://bura.brunel.ac.uk/handle/2438/24793
https://bura.brunel.ac.uk/handle/2438/24793
Autor:
Sarah Neuhaus, Paul A. Tamburri, Michael A. Weaver, Jeff Booth, Erin Mahoney, Lee Shaughnessy, Patricia Sondergaard, Daniel A. Hatch, Travis B. Lewis, Olga Uspenskaya, Jeffrey Sevigny
Publikováno v:
Molecular Genetics and Metabolism. 138:107239
Autor:
Sarah Neuhaus, Travis B. Lewis, Paul A. Tamburri, Chester B. Whitley, Deepa Rajan, Renata C. Gallagher, Simon Jones, Aimee Donald, Maria L. Escolar, Yael Beckerman, Erin Mahoney, Daniel A. Hatch, Lee Shaughnessy, Patricia Sondergaard, Olga Uspenskaya, Jeffrey Sevigny
Publikováno v:
Molecular Genetics and Metabolism. 138:107238
Autor:
Erin O’Rourke, Louise Rodino-Klapac, Eric Pozsgai, Sarah Lewis, Danielle Griffin, Aaron Meadows, Kelly Lehman, Kathleen Church, Natalie Reash, Megan Iammarino, Brenna Powers, Lindsay Alfano, Linda Lowes, Erica Koenig, Sarah Neuhaus, Xiaoxi Li, Jerry R. Mendell
Publikováno v:
Genetics in Medicine. 24:S132-S133