PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
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
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Journal Article
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
Lise, Stefano, Clarkson, Yvonne, Perkins, Emma, Kwasniewska, Alexandra, Sadighi Akha, Elham, Schnekenberg, Ricardo Parolin, 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
Published in PLoS genetics (01.12.2012)
Published in PLoS genetics (01.12.2012)
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Journal Article
Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo
Wishart, Thomas M, Rooney, Timothy M, Lamont, Douglas J, Wright, Ann K, Morton, A Jennifer, Jackson, Mandy, Freeman, Marc R, Gillingwater, Thomas H
Published in PLoS genetics (01.08.2012)
Published in PLoS genetics (01.08.2012)
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Journal Article
Selective up-regulation of the glial Na +-dependent glutamate transporter GLT1 by a neuroimmunophilin ligand results in neuroprotection
Ganel, Raquelli, Ho, Tony, Maragakis, Nicholas J., Jackson, Mandy, Steiner, Joseph P., Rothstein, Jeffrey D.
Published in Neurobiology of disease (01.03.2006)
Published in Neurobiology of disease (01.03.2006)
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Journal Article
Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins
Rothstein, Jeffrey D, Jackson, Mandy, Song, Wei, Liu, Mu-Ya, Jin, Lin, Dykes-Hoberg, Margaret, Lin, Chien-liang G, Bowers, William J, Federoff, Howard J, Sternweis, Paul C
Published in Nature (London) (01.03.2001)
Published in Nature (London) (01.03.2001)
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Journal Article
Mechanisms for Reversible Regulation between G13 and Rho Exchange Factors
Wells, Clark D, Liu, Mu-Ya, Jackson, Mandy, Gutowski, Stephen, Sternweis, Pamela M, Rothstein, Jeffrey D, Kozasa, Tohru, Sternweis, Paul C
Published in The Journal of biological chemistry (11.01.2002)
Published in The Journal of biological chemistry (11.01.2002)
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Journal Article
Prevalence of Autosomal Dominant Cerebellar Ataxia in Aomori, the Northernmost Prefecture of Honshu, Japan
Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Hikichi, Motofumi, Ikeda, Yoshio, Jackson, Mandy, Wakasaya, Yasuhito, Matsubara, Etsuro, Kawarabayashi, Takeshi, Kannari, Kazuya, Shoji, Mikio
Published in Internal Medicine (01.01.2010)
Published in Internal Medicine (01.01.2010)
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Journal Article
An Unusual Case of Chronic Relapsing Tetanus Associated with Mandibular Osteomyelitis
Wakasaya, Yasuhito, Watanabe, Mitsunori, Tomiyama, Masahiko, Suzuki, Chieko, Jackson, Mandy, Fujimuro, Masahiro, Kimura, Tamaki, Seino, Yusuke, Kawarabayashi, Takeshi, Yamamoto-Watanabe, Yukiko, Matsubara, Etsuro, Shirahama, Ikumi, Takamura, Ayumi, Nakahata, Naoko, Shoji, Mikio
Published in Internal Medicine (01.01.2009)
Published in Internal Medicine (01.01.2009)
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Journal Article
An Unusual Case of Elderly-Onset Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) With Multiple Cerebrovascular Risk Factors
Watanabe, Mitsunori, MD, PhD, Adachi, Yoshiki, MD, PhD, Jackson, Mandy, DPhil, Yamamoto-Watanabe, Yukiko, MD, Wakasaya, Yasuhito, MD, Shirahama, Ikumi, Takamura, Ayumi, PhD, Matsubara, Etsuro, MD, PhD, Kawarabayashi, Takeshi, MD, PhD, Shoji, Mikio, MD, PhD
Published in Journal of stroke and cerebrovascular diseases (01.02.2012)
Published in Journal of stroke and cerebrovascular diseases (01.02.2012)
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Journal Article
Interaction of PDZRhoGEF with Microtubule-associated Protein 1 Light Chains
Longhurst, David M., Watanabe, Mitsunori, Rothstein, Jeffrey D., Jackson, Mandy
Published in The Journal of biological chemistry (28.04.2006)
Published in The Journal of biological chemistry (28.04.2006)
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Journal Article
Cerebellar ataxias: β‐III spectrin's interactions suggest common pathogenic pathways
Perkins, Emma, Suminaite, Daumante, Jackson, Mandy
Published in The Journal of physiology (15.08.2016)
Published in The Journal of physiology (15.08.2016)
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Journal Article
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation
Jackson, M, Al-Chalabi, A, Enayat, Z E, Chioza, B, Leigh, P N, Morrison, K E
Published in Annals of neurology (01.11.1997)
Published in Annals of neurology (01.11.1997)
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Journal Article
A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI
Watanabe, Mitsunori, Monai, Natsuki, Jackson, Mandy, Yamamoto-Watanabe, Yukiko, Ikeda, Yoshio, Suzuki, Chieko, Tomiyama, Masahiko, Kawarabayashi, Takeshi, Kimura, Tamaki, Seino, Yusuke, Wakasaya, Yasuhito, Miki, Yasuo, Matsubara, Etsuro, Shoji, Mikio
Published in Internal Medicine (01.01.2008)
Published in Internal Medicine (01.01.2008)
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Journal Article
Objective Assessment of Adherence to Inhalers by Patients with Chronic Obstructive Pulmonary Disease
Sulaiman, Imran, Cushen, Breda, Greene, Garrett, Seheult, Jansen, Seow, Dexter, Rawat, Fiona, MacHale, Elaine, Mokoka, Matshediso, Moran, Catherine Nora, Sartini Bhreathnach, Aoife, MacHale, Philippa, Tappuni, Shahed, Deering, Brenda, Jackson, Mandy, McCarthy, Hannah, Mellon, Lisa, Doyle, Frank, Boland, Fiona, Reilly, Richard B, Costello, Richard W
Published in American journal of respiratory and critical care medicine (15.05.2017)
Published in American journal of respiratory and critical care medicine (15.05.2017)
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Journal Article
Cerebellar ataxias: [beta]-III spectrin's interactions suggest common pathogenic pathways
Perkins, Emma, Suminaite, Daumante, Jackson, Mandy
Published in The Journal of physiology (01.08.2016)
Published in The Journal of physiology (01.08.2016)
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Journal Article
Feasibility of a randomised controlled trial to evaluate home-based virtual reality therapy in children with cerebral palsy
Farr, William J, Green, Dido, Bremner, Stephen, Male, Ian, Gage, Heather, Bailey, Sarah, Speller, Sandra, Colville, Valerie, Jackson, Mandy, Memon, Anjum, Morris, Christopher
Published in Disability and rehabilitation (2021)
Published in Disability and rehabilitation (2021)
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Journal Article
De novo point mutations in patients diagnosed with ataxic cerebral palsy
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
Published in Brain (London, England : 1878) (01.07.2015)
Published in Brain (London, England : 1878) (01.07.2015)
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