Hasil Pencarian - Emily O'Connor
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A quantitative and qualitative comparison of illumina MiSeq and 454 amplicon sequencing for genotyping the highly polymorphic major histocompatibility complex (MHC) in a non-model... oleh Haslina Razali, Emily O’Connor, Anna Drews, Terry Burke, Helena Westerdahl
Diterbitkan 2017-07-01
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Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome oleh Sally Spendiff, Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O'Connor, Emily O'Connor, Clarke Slater, Stefan Hettwer, Armin Mäder, Andreas Roos, Andreas Roos, Rita Horvath, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller
Diterbitkan 2020-12-01
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Extreme MHC class I diversity in the sedge warbler (Acrocephalus schoenobaenus); selection patterns and allelic divergence suggest that different genes have different functions oleh Aleksandra Biedrzycka, Emily O’Connor, Alvaro Sebastian, Magdalena Migalska, Jacek Radwan, Tadeusz Zając, Wojciech Bielański, Wojciech Solarz, Adam Ćmiel, Helena Westerdahl
Diterbitkan 2017-07-01
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Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish oleh Emily O’Connor, George Cairns, Sally Spendiff, David Burns, Stefan Hettwer, Armin Mäder, Juliane Müller, Rita Horvath, Clarke Slater, Andreas Roos, Hanns Lochmüller
Diterbitkan 2019-08-01
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SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human oleh Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos
Diterbitkan 2019-04-01
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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes oleh Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Diterbitkan 2024-02-01
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease oleh Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Diterbitkan 2023-02-01
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