Zobrazeno 1 - 10
of 7 704
pro vyhledávání: '"Ingrid E"'
Autor:
Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1643-1657 (2024)
Abstract Fenfluramine (FFA), an antiseizure medication (ASM) with serotonergic and sigma‐1 receptor activity, is used to manage patients with developmental and epileptic encephalopathies (DEEs). It is approved in the US for treating seizures associ
Externí odkaz:
https://doaj.org/article/3dc1b09b0bfc46e7857e957e7df05a9b
Autor:
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but rem
Externí odkaz:
https://doaj.org/article/56ab879163324f04934308a670c8a49d
Autor:
Samuel Francisco Santos Fuentes, Haroldo Arturo López García, Xaviera Alexa Caballero Cáceres, Elena Ninoska Reyes Flores, Isaí Gutiérrez Andino, Víctor Gerardo Elías Castejón Cálix, Tirzo Israel Godoy Torres, Ingrid E. Urbina Hollman, Sayda Lizeth Pejuan Uclés
Publikováno v:
Revista Médica Hondureña, Vol 92, Iss Suplemento 1, Pp 1-98 (2024)
Externí odkaz:
https://doaj.org/article/b2c43e9b504c47f6bc5e33e3b178a86c
Autor:
Paramita Baruah, Jennifer L. Marshall, Meriam Nefla, Valentina Pucino, Holly Adams, Jason D. Turner, Sebastian Gilbert, Emily Powell, Georgiana Neag, Peter Monksfield, Richard M. Irving, Adam P. Croft, Ingrid E. Dumitriu, Christopher D. Buckley
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Background and aimHead and neck paragangliomas (HNPGN) are tumours that carry significant morbidity The role of the stroma in the pathogenesis of HNPGN is not completely understood. This study explores the profile of fibroblasts and macrophages in HN
Externí odkaz:
https://doaj.org/article/2b4ad7c7303a4af8ba2287c86538d1b3
Autor:
Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105404- (2024)
Summary: Background: Phenotypic variability within families with epilepsy is often observed, even when relatives share the same monogenic cause. We aimed to investigate whether common polygenic risk for epilepsy could explain the penetrance and pheno
Externí odkaz:
https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1
Autor:
Chileleko Siachisumo, Sara Luzzi, Saad Aldalaqan, Gerald Hysenaj, Caroline Dalgliesh, Kathleen Cheung, Matthew R Gazzara, Ivaylo D Yonchev, Katherine James, Mahsa Kheirollahi Chadegani, Ingrid E Ehrmann, Graham R Smith, Simon J Cockell, Jennifer Munkley, Stuart A Wilson, Yoseph Barash, David J Elliott
Publikováno v:
eLife, Vol 12 (2024)
Previously, we showed that the germ cell-specific nuclear protein RBMXL2 represses cryptic splicing patterns during meiosis and is required for male fertility (Ehrmann et al., 2019). Here, we show that in somatic cells the similar yet ubiquitously ex
Externí odkaz:
https://doaj.org/article/3a7024d8f2914f8397cd755d8a9c8c64
Autor:
Asia-Sophia Wolf, Kristin H. Bjørlykke, Hilde S. Ørbo, Sabin Bhandari, Guri Solum, Ingrid Fadum Kjønstad, Ingrid Jyssum, Unni C. Nygaard, Anja Bråthen Kristoffersen, Ingrid E. Christensen, Sarah E. Josefsson, Katrine Persgård Lund, Adity Chopra, Julie Røkke Osen, Viktoriia Chaban, Anne T. Tveter, Joseph Sexton, Tore K. Kvien, Jørgen Jahnsen, Espen A. Haavardsholm, Gunnveig Grødeland, John Torgils Vaage, Sella A. Provan, Hassen Kared, Fridtjof Lund-Johansen, Ludvig A. Munthe, Silje Watterdal Syversen, Guro Løvik Goll, Kristin Kaasen Jørgensen, Siri Mjaaland
Publikováno v:
EBioMedicine, Vol 108, Iss , Pp 105317- (2024)
Summary: Background: Understanding cellular responses to SARS-CoV-2 immunisations is important for informing vaccine recommendations in patients with inflammatory bowel disease (IBD) and other vulnerable patients on immunosuppressive therapies. This
Externí odkaz:
https://doaj.org/article/89d0f1ccaaca475d9081914fbee7e664
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/fa9167db24b649a59877b2a3549a5c96
Autor:
Maritzaida Varela Salgado, Ingrid E. Adriaans, Sandra A. Touati, Sandy Ibanes, Joséphine Lai-Kee-Him, Aurélie Ancelin, Luca Cipelletti, Laura Picas, Simonetta Piatti
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract A double septin ring accompanies cytokinesis in yeasts and mammalian cells. In budding yeast, reorganisation of the septin collar at the bud neck into a dynamic double ring is essential for actomyosin ring constriction and cytokinesis. Septi
Externí odkaz:
https://doaj.org/article/a7acff31b15c4ae097d29add29bdf9d3
Autor:
Russell Nightscales, Zhibin Chen, Sarah Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel F. Berkovic, John‐Paul Nicolo, Terence J. O'Brien, Piero Perucca, Ingrid E. Scheffer, Patrick Kwan
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 602-612 (2024)
Abstract Objective Lennox‐Gastaut syndrome (LGS) is an archetypal developmental and epileptic encephalopathy, for which novel treatments are emerging. Diagnostic criteria for LGS have recently been defined by the International League Against Epilep
Externí odkaz:
https://doaj.org/article/5ce51fa4d8a44da7853fe51fc102ebf0