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

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Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo von Wishart, Thomas M, Rooney, Timothy M, Lamont, Douglas J, Wright, Ann K, Morton, A Jennifer, Jackson, Mandy, Freeman, Marc R, Gillingwater, Thomas H

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Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18 von Rothstein, Jeffrey D, Lin, Chien-liang Glenn, Orlov, Irina, Ruggiero, Alicia M, Dykes-Hoberg, Margaret, Lee, Andy, Jackson, Mandy

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Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins von 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

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Mechanisms for Reversible Regulation between G13 and Rho Exchange Factors von Wells, Clark D, Liu, Mu-Ya, Jackson, Mandy, Gutowski, Stephen, Sternweis, Pamela M, Rothstein, Jeffrey D, Kozasa, Tohru, Sternweis, Paul C

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Objective Assessment of Adherence to Inhalers by Patients with Chronic Obstructive Pulmonary Disease von 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

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De novo point mutations in patients diagnosed with ataxic cerebral palsy von 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

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Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8 von Murage, Brenda, Tan, Han, Mashimo, Tomoji, Jackson, Mandy, Skehel, Paul A

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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation von Jackson, Mandy, Al-Chalabi, Ammar, Enayat, Zinat E., Chioza, Barry, Leigh, Peter N., Morrison, Karen E.

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A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI von 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

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MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias von Brown, Alexander S., Meera, Pratap, Altindag, Banu, Chopra, Ravi, Perkins, Emma M., Paul, Sharan, Scoles, Daniel R., Tarapore, Eric, Magri, Jessica, Huang, Haoran, Jackson, Mandy, Shakkottai, Vikram G., Otis, Thomas S., Pulst, Stefan M., Atwood, Scott X., Oro, Anthony E.

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Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans von Perkins, Emma M, Clarkson, Yvonne L, Sabatier, Nancy, Longhurst, David M, Millward, Christopher P, Jack, Jennifer, Toraiwa, Junko, Watanabe, Mitsunori, Rothstein, Jeffrey D, Lyndon, Alastair R, Wyllie, David J A, Dutia, Mayank B, Jackson, Mandy

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β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis von Gao, Yuanzheng, Perkins, Emma M, Clarkson, Yvonne L, Tobia, Steven, Lyndon, Alastair R, Jackson, Mandy, Rothstein, Jeffrey D

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Control of synaptic vesicle endocytosis by an extracellular signalling molecule von Smillie, Karen J., Pawson, Jonathan, Perkins, Emma M., Jackson, Mandy, Cousin, Michael A.

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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 von Clarkson, Yvonne L, Perkins, Emma M, Cairncross, Callum J, Lyndon, Alastair R, Skehel, Paul A, Jackson, Mandy

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β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi von Clarkson, Yvonne L., Gillespie, Trudi, Perkins, Emma M., Lyndon, Alastair R., Jackson, Mandy

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A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report von Yamamoto-Watanabe, Yukiko, Watanabe, Mitsunori, Okamoto, Koichi, Fujita, Yukio, Jackson, Mandy, Ikeda, Masaki, Nakazato, Yoichi, Ikeda, Yoshio, Matsubara, Etsuro, Kawarabayashi, Takeshi, Shoji, Mikio

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Colonisation of Irish patients with chronic obstructive pulmonary disease by Streptococcus pneumoniae and analysis of the pneumococcal vaccine coverage: a non-interventional, obser... von McCarthy, Hannah, Jackson, Mandy, Corcoran, Mary, McElligott, Martha, MacHale, Elaine, Sulaiman, Imran, Cushen, Breda, Costello, Richard W, Humpreys, Hilary

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The role of the host culture as a resource for developing intercultural understanding in a Dutch international secondary school von Jackson, Mandy

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Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case von Jackson, Mandy, Morrison, Karen E., Al-Chalabi, Ammar, Baldier, Martijn, Leigh, Peter N.

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