Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
Matthews, E, Labrum, R, Sweeney, M G, Sud, R, Haworth, A, Chinnery, P F, Meola, G, Schorge, S, Kullmann, D M, Davis, M B, Hanna, M G
Published in Neurology (05.05.2009)
Published in Neurology (05.05.2009)
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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
Trender-Gerhard, I, Sweeney, M G, Schwingenschuh, P, Mir, P, Edwards, M J, Gerhard, A, Polke, J M, Hanna, M G, Davis, M B, Wood, N W, Bhatia, K P
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2009)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2009)
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The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
Nesbitt, Victoria, Pitceathly, Robert D S, Turnbull, Doug M, Taylor, Robert W, Sweeney, Mary G, Mudanohwo, Ese E, Rahman, Shamima, Hanna, Michael G, McFarland, Robert
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2013)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2013)
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Xi, Zhengrui, Zhang, Ming, Bruni, Amalia C., Maletta, Raffaele G., Colao, Rosanna, Fratta, Pietro, Polke, James M., Sweeney, Mary G., Mudanohwo, Ese, Nacmias, Benedetta, Sorbi, Sandro, Tartaglia, Maria Carmela, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Galimberti, Daniela, Surace, Ezequiel I., McGoldrick, Philip, McKeever, Paul, Moreno, Danielle, Sato, Christine, Liang, Yan, Keith, Julia, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina
Published in Acta neuropathologica (01.05.2015)
Published in Acta neuropathologica (01.05.2015)
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The role of interruptions in polyQ in the pathology of SCA1
Menon, Rajesh P, Nethisinghe, Suran, Faggiano, Serena, Vannocci, Tommaso, Rezaei, Human, Pemble, Sally, Sweeney, Mary G, Wood, Nicholas W, Davis, Mary B, Pastore, Annalisa, Giunti, Paola
Published in PLoS genetics (01.07.2013)
Published in PLoS genetics (01.07.2013)
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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
Reetz, Kathrin, Prof, Dogan, Imis, PhD, Costa, Ana S, MSc, Dafotakis, Manuel, MD, Fedosov, Kathrin, MSc, Giunti, Paola, MD, Parkinson, Michael H, MBBS, Sweeney, Mary G, BSc, Mariotti, Caterina, MD, Panzeri, Marta, MD, Nanetti, Lorenzo, MD, Arpa, Javier, MD, Sanz-Gallego, Irene, MD, Durr, Alexandra, Prof, Charles, Perrine, MD, Boesch, Sylvia, MD, Nachbauer, Wolfgang, MD, Klopstock, Thomas, MD, Karin, Ivan, MD, Depondt, Chantal, MD, vom Hagen, Jennifer Müller, MD, Schöls, Ludger, Prof, Giordano, Ilaria A, MD, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof Dr
Published in Lancet neurology (01.02.2015)
Published in Lancet neurology (01.02.2015)
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Heart Failure and MEF2 Transcriptome Dynamics in Response to β-Blockers
Tobin, S W, Hashemi, S, Dadson, K, Turdi, S, Ebrahimian, K, Zhao, J, Sweeney, G, Grigull, J, McDermott, J C
Published in Scientific reports (30.06.2017)
Published in Scientific reports (30.06.2017)
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Globular adiponectin increases GLUT4 translocation and glucose uptake but reduces glycogen synthesis in rat skeletal muscle cells
CEDDIA, R. B, SOMWAR, R, MAIDA, A, FANG, X, BIKOPOULOS, G, SWEENEY, G
Published in Diabetologia (01.01.2005)
Published in Diabetologia (01.01.2005)
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Journal Article
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published in Cell reports (Cambridge) (27.06.2013)
Published in Cell reports (Cambridge) (27.06.2013)
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Structures of the ligand‐binding domain of Helicobacter pylori chemoreceptor TlpA
Sweeney, Emily G., Perkins, Arden, Kallio, Karen, James Remington, Stephen, Guillemin, Karen
Published in Protein science (01.11.2018)
Published in Protein science (01.11.2018)
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Cellulose-based materials in wastewater treatment of petroleum industry
Peng, Baoliang, Yao, Zhaoling, Wang, Xiaocong, Crombeen, Mitchel, Sweeney, Dalton G., Tam, Kam Chiu
Published in Green energy & environment (01.01.2020)
Published in Green energy & environment (01.01.2020)
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513 - Lithium monitoring in Old Age Psychiatry – a quality improvement project
Herridge, E., Valentine, L., Cannon, J., Novac, R., Marmion, S., Corcoran, M., Sweeney, G., Cryan, M., McCarthy, G., Dolan, C.
Published in International psychogeriatrics (01.10.2021)
Published in International psychogeriatrics (01.10.2021)
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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
Jacobi, H, Bauer, P, Giunti, P, Labrum, R, Sweeney, M G, Charles, P, Dürr, A, Marelli, C, Globas, C, Linnemann, C, Schöls, L, Rakowicz, M, Rola, R, Zdzienicka, E, Schmitz-Hübsch, T, Fancellu, R, Mariotti, C, Tomasello, C, Baliko, L, Melegh, B, Filla, A, Rinaldi, C, van de Warrenburg, B P, Verstappen, C C P, Szymanski, S, Berciano, J, Infante, J, Timmann, D, Boesch, S, Hering, S, Depondt, C, Pandolfo, M, Kang, J-S, Ratzka, S, Schulz, J, Tezenas du Montcel, S, Klockgether, T
Published in Neurology (13.09.2011)
Published in Neurology (13.09.2011)
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Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Cottenie, Ellen, Kochanski, Andrzej, Jordanova, Albena, Bansagi, Boglarka, Zimon, Magdalena, Horga, Alejandro, Jaunmuktane, Zane, Saveri, Paola, Rasic, Vedrana Milic, Baets, Jonathan, Bartsakoulia, Marina, Ploski, Rafal, Teterycz, Pawel, Nikolic, Milos, Quinlivan, Ros, Laura, Matilde, Sweeney, Mary G., Taroni, Franco, Lunn, Michael P., Moroni, Isabella, Gonzalez, Michael, Hanna, Michael G., Bettencourt, Conceicao, Chabrol, Elodie, Franke, Andre, von Au, Katja, Schilhabel, Markus, Kabzińska, Dagmara, Hausmanowa-Petrusewicz, Irena, Brandner, Sebastian, Lim, Siew Choo, Song, Haiwei, Choi, Byung-Ok, Horvath, Rita, Chung, Ki-Wha, Zuchner, Stephan, Pareyson, Davide, Harms, Matthew, Reilly, Mary M., Houlden, Henry
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease
Rajakulendran, Sanjeev, Pitceathly, Robert D S, Taanman, Jan-Willem, Costello, Harry, Sweeney, Mary G, Woodward, Cathy E, Jaunmuktane, Zane, Holton, Janice L, Jacques, Thomas S, Harding, Brian N, Fratter, Carl, Hanna, Michael G, Rahman, Shamima
Published in PloS one (06.01.2016)
Published in PloS one (06.01.2016)
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Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis
Morgan, Sarah, Shoai, Maryam, Fratta, Pietro, Sidle, Katie, Orrell, Richard, Sweeney, Mary G, Shatunov, Aleksey, Sproviero, William, Jones, Ashley, Al-Chalabi, Ammar, Malaspina, Andrea, Houlden, Henry, Hardy, John, Pittman, Alan
Published in Neurobiology of aging (01.03.2015)
Published in Neurobiology of aging (01.03.2015)
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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
Khan, Naheed L., Jain, Shushant, Lynch, John M., Pavese, Nicola, Abou-Sleiman, Patrick, Holton, Janice L., Healy, Daniel G., Gilks, William P., Sweeney, Mary G., Ganguly, Milan, Gibbons, Vaneesha, Gandhi, Sonia, Vaughan, Jenny, Eunson, Louise H., Katzenschlager, Regina, Gayton, Juliet, Lennox, Graham, Revesz, Tamas, Nicholl, David, Bhatia, Kailash P., Quinn, Niall, Brooks, David, Lees, Andrew J., Davis, Mary B., Piccini, Paola, Singleton, Andrew B., Wood, Nicholas W.
Published in Brain (London, England : 1878) (01.12.2005)
Published in Brain (London, England : 1878) (01.12.2005)
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Quantitative molecular assessment of chimerism across tissues in marmosets and tamarins
Sweeney, Carolyn G, Curran, Elizabeth, Westmoreland, Susan V, Mansfield, Keith G, Vallender, Eric J
Published in BMC genomics (19.03.2012)
Published in BMC genomics (19.03.2012)
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