Bilaketaren emaitzak - Joseph D. Symonds

Findu emaitzak
  1. 1
    Epilepsy and developmental disorders: Next generation sequencing in the clinic

    Epilepsy and developmental disorders: Next generation sequencing in the clinic nork Joseph D. Symonds, Amy McTague

    Argitaratua 2019
    Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  2. 2
    Update on diagnosis and management of childhood epilepsies

    Update on diagnosis and management of childhood epilepsies nork Sameer M. Zuberi, Joseph D. Symonds

    Argitaratua 2015
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  3. 3
    Dravet syndrome and its mimics: Beyond <i><scp>SCN</scp>1A</i>

    Dravet syndrome and its mimics: Beyond <i><scp>SCN</scp>1A</i> nork Dora Steel, Joseph D. Symonds, Sameer M. Zuberi, Andreas Brunklaus

    Argitaratua 2017
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  4. 4
    Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

    Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study nork Phoebe Makiello, Tony Feng, Benjamin Dunwoody, Felix Steckler, Joseph D. Symonds, Sameer M. Zuberi, Liam Dorris, Andreas Brunklaus

    Argitaratua 2023
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  5. 5
    Trauma, Coping, and Adjustment when Parenting a Child with Dravet Syndrome

    Trauma, Coping, and Adjustment when Parenting a Child with Dravet Syndrome nork Anthony Mercier, Liam Dorris, Andreas Brunklaus, Joseph D. Symonds, Sameer M. Zuberi, Teresa Finch, Galia Wilson, Claire Eldred

    Argitaratua 2025
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  6. 6
    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association

    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association nork Ismael Ghanty, Eduardo Pérez‐Palma, Camilo Villamán, Daniel Stobo, Joseph D. Symonds, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    Argitaratua 2025
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  7. 7
    Heart rate variability in epilepsy: A potential biomarker of <scp>sudden unexpected death in epilepsy</scp> risk

    Heart rate variability in epilepsy: A potential biomarker of <scp>sudden unexpected death in epilepsy</scp> risk nork Kenneth A. Myers, Luis Bello‐Espinosa, Joseph D. Symonds, Sameer M. Zuberi, Robin Clegg, Lynette G. Sadleir, Jeffrey Buchhalter, Ingrid E. Scheffer

    Argitaratua 2018
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  8. 8
    Gene variant effects across sodium channelopathies predict function and guide precision therapy

    Gene variant effects across sodium channelopathies predict function and guide precision therapy nork Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Pérez‐Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D. Symonds, Sameer M. Zuberi, Dennis Lal, Stéphanie Schorge

    Argitaratua 2022
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  9. 9
    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants nork Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Amanda Lindy, Dianalee McKnight, Costin Leu, Sameer M. Zuberi, Andreas Brunklaus, Rikke S. Møller, Dennis Lal

    Argitaratua 2020
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  10. 10
    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization

    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization nork Andreas Brunklaus, Stéphanie Schorge, Alexander D. Smith, Ismael Ghanty, Kirsty Stewart, Sarah L. Gardiner, Juanjiangmeng Du, Eduardo Pérez‐Palma, Joseph D. Symonds, Abby C. Collier, Dennis Lal, Sameer M. Zuberi

    Argitaratua 2019
    Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  11. 11
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies nork D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    Argitaratua 2024
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  12. 12
    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants nork Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah L. Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart Macleod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T. Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C. Knight, Sameer M. Zuberi

    Argitaratua 2021
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  13. 13
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies nork Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    Argitaratua 2022
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  14. 14
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases nork Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Argitaratua 2017
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  15. 15
    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort nork Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O’Regan, Stewart Macleod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T. Pilz, Jay Shetty, Liam Dorris, Ishaq Abu‐Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah L. Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A. Morrison, Lesley Nairn, Meghan M. Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret T. Wilson

    Argitaratua 2019
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  16. 16
    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

    Biological concepts in human sodium channel epilepsies and their relevance in clinical practice nork Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael Ghanty, Katrine M. Johannesen, Christina Fenger, Stéphanie Schorge, David Báez-Nieto, Hao‐Ran Wang, Andrew S. Allen, Jen Q. Pan, Holger Lerche, Henrike Heyne, Joseph D. Symonds, Sameer M. Zuberi, Stephan Sanders, Beth Rosen Sheidley, Dana Craiu, Heather E. Olson, Sarah Weckhuysen, Peter M. DeJonge, Ingo Helbig, Hilde Van Esch, Tiffany Busa, M. Milh, Bertrand Isidor, Christel Depienne, Annapurna Poduri, Arthur J. Campbell, Jordane Dimidschstein, Rikke S. Møller, Dennis Lal

    Argitaratua 2020
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  17. 17
    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications nork Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

    Argitaratua 2022
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  18. 18
    GIGYF1 disruption associates with autism and impaired IGF-1R signaling

    GIGYF1 disruption associates with autism and impaired IGF-1R signaling nork Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Hua Yue, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael Bernier, Rachel K. Earl, Evangeline C. Kurtz‐Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca A. Clark, Jessica Sebastian, Alberto Fernández‐Jaén, Sara Álvarez, Staci D. King, Luiza Ramos, Mara Lúcia Schmitz Ferreira Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo

    Argitaratua 2022
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  19. 19
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder nork Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  20. 20
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder nork Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: