Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Emily O'Connor"'
Autor:
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
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers
Externí odkaz:
https://doaj.org/article/da340b3b30af42679f99a2df69ba8241
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-23 (2023)
Abstract Objective This review aimed to identify guidelines with recommendations applicable to the antenatal management of dichorionic diamniotic twin pregnancies within high-income countries, appraise their methodological quality, and discuss the si
Externí odkaz:
https://doaj.org/article/51cfaf10e4314045b1f2a9351e506323
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Publikováno v:
HRB Open Research, Vol 5 (2023)
Introduction: Perinatal mortality encompasses stillbirths and early neonatal deaths. A perinatal death surveillance and response cycle has been recommended by the World Health Organization for use in the review of perinatal deaths. The main component
Externí odkaz:
https://doaj.org/article/6102fcdd5afd49cfac999e4533c85869
Autor:
Emily O'Connor, Kevin Roy, Fergal O’Hagan, Elizabeth Campbell Brown, Gisèle Richard, Ellyssa Walsh, Alison Flynn
Publikováno v:
Canadian Journal for the Scholarship of Teaching and Learning, Vol 14, Iss 1 (2023)
We developed and launched an online, course-integrated module called Growth & Goals aimed to help students better develop evidence-based learning skills. The module focuses on five main concepts: self-regulated learning, goal-setting, metacognition,
Externí odkaz:
https://doaj.org/article/eed64a4b295c42f485ba0bb6b6754dac
Autor:
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
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 218-229 (2019)
Background: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for
Externí odkaz:
https://doaj.org/article/86c73da4fb03475eacefcedc8379d4c2
Autor:
Sally Spendiff, Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O'Connor, Clarke Slater, Stefan Hettwer, Armin Mäder, Andreas Roos, Rita Horvath, Hanns Lochmüller
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early with fatigable weakness and
Externí odkaz:
https://doaj.org/article/abdd85adee9246eda39df3320d66f035
Autor:
Aleksandra Biedrzycka, Emily O’Connor, Alvaro Sebastian, Magdalena Migalska, Jacek Radwan, Tadeusz Zając, Wojciech Bielański, Wojciech Solarz, Adam Ćmiel, Helena Westerdahl
Publikováno v:
BMC Evolutionary Biology, Vol 17, Iss 1, Pp 1-12 (2017)
Abstract Background Recent work suggests that gene duplications may play an important role in the evolution of immunity genes. Passerine birds, and in particular Sylvioidea warblers, have highly duplicated major histocompatibility complex (MHC) genes
Externí odkaz:
https://doaj.org/article/8d446a4d991e428aacd130383819c39c
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-10 (2017)
Abstract Background High-throughput sequencing enables high-resolution genotyping of extremely duplicated genes. 454 amplicon sequencing (454) has become the standard technique for genotyping the major histocompatibility complex (MHC) genes in non-mo
Externí odkaz:
https://doaj.org/article/2c24221ed9f648a58adaeb656ed46a2a
Autor:
Emily O’Connor, George Cairns, Sally Spendiff, David Burns, Stefan Hettwer, Armin Mäder, Juliane Müller, Rita Horvath, Clarke Slater, Andreas Roos, Hanns Lochmüller
Publikováno v:
Cells, Vol 8, Iss 8, p 848 (2019)
Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the NMJ. In three patients with
Externí odkaz:
https://doaj.org/article/58e2aa45b59e444297f9c29f803bb62e