Cerebellar ataxias: β‐III spectrin's interactions suggest common pathogenic pathways

por Perkins, Emma, Suminaite, Daumante, Jackson, Mandy
Publicado 2016

Control of synaptic vesicle endocytosis by an extracellular signalling molecule

por Smillie, Karen J., Pawson, Jonathan, Perkins, Emma M., Jackson, Mandy, Cousin, Michael A.
Publicado 2013

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

por Clarkson, Yvonne L., Perkins, Emma M., Cairncross, Callum J., Lyndon, Alastair R., Skehel, Paul A., Jackson, Mandy
Publicado 2014

The use of video laryngoscopy outside the operating room: A systematic review

por Perkins, Emma J., Begley, Jonathan L., Brewster, Fiona M., Hanegbi, Nathan D., Ilancheran, Arun A., Brewster, David J.
Publicado 2022

Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST

por Perkins, Emma M., Suminaite, Daumante, Clarkson, Yvonne L., Lee, Sin Kwan, Lyndon, Alastair R., Rothstein, Jeffrey D., Wyllie, David J.A., Tanaka, Kohichi, Jackson, Mandy
Publicado 2016

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells

por Perkins, Emma M, Clarkson, Yvonne L, Suminaite, Daumante, Lyndon, Alastair R, Tanaka, Kohichi, Rothstein, Jeffrey D, Skehel, Paul A, Wyllie, David J A, Jackson, Mandy
Publicado 2018

Proteomic Profiling Identifies Co-Regulated Expression of Splicing Factors as a Characteristic Feature of Intravenous Leiomyomatosis

por Krasny, Lukas, Wilding, Chris P., Perkins, Emma, Arthur, Amani, Guljar, Nafia, Jenks, Andrew D., Fisher, Cyril, Judson, Ian, Thway, Khin, Jones, Robin L., Huang, Paul H.
Publicado 2022

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction

por Perkins, Emma M., Burr, Karen, Banerjee, Poulomi, Mehta, Arpan R., Dando, Owen, Selvaraj, Bhuvaneish T., Suminaite, Daumante, Nanda, Jyoti, Henstridge, Christopher M., Gillingwater, Thomas H., Hardingham, Giles E., Wyllie, David J. A., Chandran, Siddharthan, Livesey, Matthew R.
Publicado 2021

De novo point mutations in patients diagnosed with ataxic cerebral palsy

por Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Publicado 2015

Transactive response DNA-binding protein-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model

por Barton, Samantha K, Magnani, Dario, James, Owen G, Livesey, Matthew R, Selvaraj, Bhuvaneish T, James, Owain T, Perkins, Emma M, Gregory, Jenna M, Cleary, Elaine, Ausems, C Rosanne M, Carter, Roderick N Carter, Vasistha, Navneet A, Zhao, Chen, Burr, Karen, Story, David, Cardinali, Alessandra, Morton, Nicholas M, Hardingham, Giles E, Wyllie, David J A, Chandran, Siddharthan
Publicado 2021

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

por Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Parolin Schnekenberg, Ricardo, Suminaite, Daumante, Hope, Jilly, Baker, Ian, Gregory, Lorna, Green, Angie, Allan, Chris, Lamble, Sarah, Jayawant, Sandeep, Quaghebeur, Gerardine, Cader, M. Zameel, Hughes, Sarah, Armstrong, Richard J. E., Kanapin, Alexander, Rimmer, Andrew, Lunter, Gerton, Mathieson, Iain, Cazier, Jean-Baptiste, Buck, David, Taylor, Jenny C., Bentley, David, McVean, Gilean, Donnelly, Peter, Knight, Samantha J. L., Jackson, Mandy, Ragoussis, Jiannis, Németh, Andrea H.
Publicado 2012

The proteomic landscape of soft tissue sarcomas

por Burns, Jessica, Wilding, Christopher P., Krasny, Lukas, Zhu, Xixuan, Chadha, Madhumeeta, Tam, Yuen Bun, PS, Hari, Mahalingam, Aswanth H., Lee, Alexander T. J., Arthur, Amani, Guljar, Nafia, Perkins, Emma, Pankova, Valeriya, Jenks, Andrew, Djabatey, Vanessa, Szecsei, Cornelia, McCarthy, Frank, Ragulan, Chanthirika, Milighetti, Martina, Roumeliotis, Theodoros I., Crosier, Stephen, Finetti, Martina, Choudhary, Jyoti S., Judson, Ian, Fisher, Cyril, Schuster, Eugene F., Sadanandam, Anguraj, Chen, Tom W., Williamson, Daniel, Thway, Khin, Jones, Robin L., Cheang, Maggie C. U., Huang, Paul H.
Publicado 2023

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

por Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Publicado 2017

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca(2+)-permeable AMPA receptor-mediated excitotoxicity

por Selvaraj, Bhuvaneish T., Livesey, Matthew R., Zhao, Chen, Gregory, Jenna M., James, Owain T., Cleary, Elaine M., Chouhan, Amit K., Gane, Angus B., Perkins, Emma M., Dando, Owen, Lillico, Simon G., Lee, Youn-Bok, Nishimura, Agnes L., Poreci, Urjana, Thankamony, Sai, Pray, Meryll, Vasistha, Navneet A., Magnani, Dario, Borooah, Shyamanga, Burr, Karen, Story, David, McCampbell, Alexander, Shaw, Christopher E., Kind, Peter C., Aitman, Timothy J., Whitelaw, C. Bruce A., Wilmut, Ian, Smith, Colin, Miles, Gareth B., Hardingham, Giles E., Wyllie, David J. A., Chandran, Siddharthan
Publicado 2018