检索结果 - Adrian J. Waite

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  1. 1
    The dystrophin–glycoprotein complex in brain development and disease

    The dystrophin–glycoprotein complex in brain development and disease 由 Adrian J. Waite, S. Brown, Derek J. Blake

    出版 2012
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  2. 2
    Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

    Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation 由 Marc P. Forrest, Adrian J. Waite, Enca Martin‐Rendon, Derek J. Blake

    出版 2013
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  3. 3
    The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

    The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability 由 Marc P. Forrest, Matthew Hill, David H. Kavanagh, Katherine E. Tansey, Adrian J. Waite, Derek J. Blake

    出版 2017
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  4. 4
    Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

    Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion 由 Adrian J. Waite, Dirk Bäumer, Simon Z. East, James Neal, Huw R. Morris, Olaf Ansorge, Derek J. Blake

    出版 2014
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  5. 5
    SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

    SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA 由 Christopher T. Esapa, Adrian J. Waite, Matthew Locke, Matthew A. Benson, Michaela Kraus, R. A. Jeffrey McIlhinney, Roy V. Sillitoe, Philip Beesley, Derek J. Blake

    出版 2007
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  6. 6
    Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

    Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome 由 Jianfeng Xiao, Satya R. Vemula, Yi Xue, Mohammad Moshahid Khan, Francesca A. Carlisle, Adrian J. Waite, Derek J. Blake, Ioannis Dragatsis, Yu Zhao, Mark S. LeDoux

    出版 2016
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  7. 7
    Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

    Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p 由 Justin Pearson, Nigel Williams, Elisa Majounie, Adrian J. Waite, J. Randall Stott, Victoria Newsway, Alex Murray, Dena Hernandez, Rita Guerreiro, Andrew Singleton, James Neal, Huw R. Morris

    出版 2010
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  8. 8
    <i>C9ORF72</i> expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

    <i>C9ORF72</i> expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism 由 Seán O’Dowd, Denis Curtin, Adrian J. Waite, Kinley Roberts, Niall Pender, Valerie Reid, Martin O’Connell, Nigel Williams, Huw R. Morris, Bryan J. Traynor, Timothy Lynch

    出版 2012
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  9. 9
    <scp>C</scp>9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

    <scp>C</scp>9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits 由 Max Koppers, Anna M. Blokhuis, Henk‐Jan Westeneng, Margo L. Terpstra, Caroline A. C. Zundel, Renata Vieira de Sá, Raymond D. Schellevis, Adrian J. Waite, Derek J. Blake, Jan H. Veldink, Leonard H. van den Berg, R. Jeroen Pasterkamp

    出版 2015
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  10. 10
    Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

    Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia 由 Pietro Fratta, Mark Poulter, Tammaryn Lashley, Jonathan D. Rohrer, James M. Polke, Jon Beck, Natalie S. Ryan, Davina J. Hensman Moss, Sarah Mizielinska, Adrian J. Waite, Mang Ching Lai, Tania F. Gendron, Leonard Petrucelli, Elizabeth Fisher, Tamás Révész, Jason D. Warren, John Collinge, Adrian M. Isaacs, Simon Mead

    出版 2013
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  11. 11
    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype 由 Kathryn J. Peall, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean‐Pierre Lin, Martin A. Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Bryan Lynch, George Kirov, Séan O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris

    出版 2014
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  12. 12
    SGCE mutations cause psychiatric disorders: clinical and genetic characterization

    SGCE mutations cause psychiatric disorders: clinical and genetic characterization 由 Kathryn J. Peall, Daniel J. Smıth, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean‐Pierre Lin, Martin A. Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Narinder Bajaj, Bryan Lynch, George Kirov, Séan O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris

    出版 2013
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  13. 13
    The chromosome 9 ALS and FTD locus is probably derived from a single founder

    The chromosome 9 ALS and FTD locus is probably derived from a single founder 由 Kin Y. Mok, Bryan J. Traynor, Jennifer C. Schymick, Pentti J. Tienari, Hannu Laaksovirta, Terhi Peuralinna, Liisa Myllykangas, Adriano Chió, Aleksey Shatunov, Bradley F. Boeve, Adam L. Boxer, Mariely DeJesus‐Hernandez, Ian R. Mackenzie, Adrian J. Waite, Nigel Williams, Huw R. Morris, Javier Simón‐Sánchez, John C. van Swieten, Peter Heutink, Gabriella Restagno, Gabriele Mora, Karen Morrison, Pamela J. Shaw, Pamela Sara Rollinson, Ammar Al‐Chalabi, Rosa Rademakers, Stuart Pickering‐Brown, Richard W. Orrell, Michael A. Nalls, John Hardy

    出版 2011
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  14. 14
    Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

    Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study 由 Elisa Majounie, Alan E. Renton, Kin Y. Mok, Elise G.P. Dopper, Adrian J. Waite, Sara Rollinson, Adriano Chió, Gabriella Restagno, Nayia Nicolaou, Javier Simón‐Sánchez, John C. van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie Sidle, Henry Houlden, Jonathan D. Rohrer, Karen Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gianluca Floris, Anne M. Remes, Hannu Laaksovirta, Leo McCluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A. Nalls, Vivian E. Drory, Chin‐Song Lu, Tu‐Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela J. Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering‐Brown, Bryan J. Traynor

    出版 2012
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  15. 15
    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project 由 Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carlos Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Hussein, Sarah Lindsay, Fiona Lalloo, Benito Banos‐Pinero, David M. Evans, Lucy Mallin, Adrian J. Waite, Julie Evans, Andrew G. Newman, Zoe Allen, Cristina Perez‐Becerril, Gavin Ryan, Rachel Hart, John‐Stephen Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw‐Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily E. Anderson, Rajesh Madhu, Helen V. Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise C. Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig, Jenny C. Taylor

    出版 2024
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  16. 16
    A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

    A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD 由 Alan E. Renton, Elisa Majounie, Adrian J. Waite, Javier Simón‐Sánchez, Sara Rollinson, J. Raphael Gibbs, Jennifer C. Schymick, Hannu Laaksovirta, John C. van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M. Remes, Alice Kaganovich, Sonja W. Scholz, Jamie Duckworth, Jinhui Ding, Daniel W. Harmer, Dena G. Hernandez, Janel O. Johnson, Kin Y. Mok, Mina Ryten, Daniah Trabzuni, Rita Guerreiro, Richard W. Orrell, James Neal, Alex Murray, Justin Pearson, Iris E. Jansen, David Sondervan, Harro Seelaar, Derek J. Blake, Kate Young, Nicola Halliwell, Janis Bennion Callister, Greg Toulson, Anna Richardson, Alexander Gerhard, Julie S. Snowden, David Mann, David Neary, Michael A. Nalls, Terhi Peuralinna, Lilja Jansson, Veli‐Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä‐Vuori, Elina Ikonen, Raimo Sulkava, Michael Benatar, Joanne Wuu, Adriano Chió, Gabriella Restagno, Giuseppe Borghero, Mario Sabatelli, David Heckerman, Ekaterina Rogaeva, Lorne Zinman, Jeffrey D. Rothstein, Michael Sendtner, Carsten Drepper, Evan E. Eichler, Can Alkan, Ziedulla Abdullaev, Svetlana Pack, Amalia Dutra, Evgenia Pak, John Hardy, Andrew Singleton, Nigel Williams, Peter Heutink, Stuart Pickering‐Brown, Huw R. Morris, Pentti J. Tienari, Bryan J. Traynor

    出版 2011
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