Výsledky vyhledávání - Adeline Ngoh

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  1. 1
    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy

    <i>GABRB3</i> mutations: a new and emerging cause of early infantile epileptic encephalopathy Autor Apostolos Papandreou, Amy McTague, Natalie Trump, Gautam Ambegaonkar, Adeline Ngoh, Esther Meyer, Richard H. Scott, Manju A. Kurian

    Vydáno 2015
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  2. 2
    Proinflammatory IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy

    Proinflammatory IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy Autor Pavanish Kumar, Derrick Chan, Amanda Jin Mei Lim, Bhairav Paleja, Simon Ling, Lai Li Yun, Su Li Poh, Adeline Ngoh, Thaschawee Arkachaisri, Joo Guan Yeo, Salvatore Albani

    Vydáno 2019
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  3. 3
    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis Autor Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, C. R. Boustred, Jane A. Hurst, Lucy Jenkins, Manju A. Kurian, Richard H. Scott

    Vydáno 2016
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  4. 4
    Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling

    Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling Autor Pavanish Kumar, Amanda Jin Mei Lim, Sharifah Nur Hazirah, Camillus Chua, Adeline Ngoh, Su Li Poh, Tong Hong Yeo, Jocelyn Lim, Simon Ling, Nursyuhadah Binte Sutamam, Enrico Petretto, David C.Y. Low, Li Zeng, Eng‐King Tan, Thaschawee Arkachaisri, Joo Guan Yeo, Florent Ginhoux, Derrick Chan, Salvatore Albani

    Vydáno 2022
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  5. 5
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations Autor Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Vydáno 2016
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  6. 6
    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

    Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy Autor Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W Kling Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

    Vydáno 2017
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  7. 7
    Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

    Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism Autor Joanne Ng, Serena Barral, Carmen De La Fuente Barrigon, Gabriele Lignani, Fatma A. Erdem, Rebecca L. Wallings, Riccardo Privolizzi, Giada Rossignoli, Haya Alrashidi, Sonja Heasman, Esther Meyer, Adeline Ngoh, Simon Pope, Rajvinder Karda, Dany Perocheau, Julien Baruteau, Natalie Suff, Juan Antinao Díaz, Stéphanie Schorge, Jane Vowles, Lucy Marshall, Sally A. Cowley, Sonja Sučić, Michael Freissmuth, John R. Counsell, Richard Wade‐Martins, Simon Heales, Ahad A. Rahim, Maximilien Bencze, Simon N. Waddington, Manju A. Kurian

    Vydáno 2021
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  8. 8
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Autor Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    Vydáno 2020
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