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Online Research @ Cardiff

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Number of items: 33.

Jones, Lliwen, Baber, Wagaar, Wardle, Mark, Robertson, Neil, Morris, Huw, Church, Alistair, Llewelyn, John and Peall, Kathryn 2019. A case of treatment resistance and complications in a patient with stiff person syndrome and cerebellar ataxia. Tremor and Other Hyperkinetic Movements 9 10.7916/tohm.v0.677

Barker, Roger A., Farrell, K., Guzman, N., He, X., Lazic, S., Moore, S., Morris, R., Tyers, P., Wijeyekoon, R., Daft, D., Hewitt, S., Dayal, V., Foltynie, T., Kefalopoulou, Z., Mahlknecht, P., Lao-Kaim, N., Piccini, P., Bjartmarz, H., Björklund, A., Lindvall, O., Nelander-Wahlestedt, J., Parmar, M., Paul, G., Widner, H., Church, A., Dunnett, S., Peall, K., Rosser, A., Gurruchaga, J., Palfi, S., Piroth, T. and Winkler, C. 2019. Designing stem-cell-based dopamine cell replacement trials for Parkinson's disease. Nature Medicine 25 (7) , pp. 1045-1053. 10.1038/s41591-019-0507-2
Item availability restricted.

Cunningham, Adam, Hill, Liam, Mon-Williams, Mark, Peall, Kathryn, Linden, David, Hall, Jeremy, Owen, Michael and van den Bree, Marianne 2019. Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion Syndrome. Journal of Neurodevelopmental Disorders 11 , 8. 10.1186/s11689-019-9271-3

Fung, W. K. W. and Peall, K. J. 2019. What is the role of the cerebellum in the pathophysiology of dystonia? Journal of Neurology 266 (6) , 1549 -1551. 10.1007/s00415-019-09344-7

Egmond, Martje E., Contarino, Maria Fiorella, Lugtenberg, Coen H.A., Peall, Kathryn J., Brouwer, Oebele F., Fung, Victor S.C., Roze, Emmanuel, Stewart, Roy E., Willemsen, Michel A., Wolf, Nicole I., Koning, Tom J. and Tijssen, Marina A. 2019. Variable interpretation of the dystonia consensus classification items compromises its solidity. Movement Disorders 34 (3) , pp. 317-320. 10.1002/mds.27627
Item availability restricted.

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry, Singh, Royana, Harlalka, Gaurav, Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine, Caswell, Richard, Allen, Hana, Wakeling, Matthew, Chilton, John, Baple, Emma, Louis, Elan, Warner, Thomas and Crosby, Andrew 2019. Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics 5 (1) , e307. 10.1212/NXG.0000000000000307

Eggink, Hendriekje, Coenen, Maraike A., de Jong, Ronald, Toonen, Rivka F., Eissens, Melanie H., Veenstra, Wencke S., Peall, Kathryn J., Sival, Deborah A., Elema, Agnes and Tijssen, Marina AJ. 2019. Motor and non-motor determinants of health-related quality of life in young dystonia patients. Parkinsonism & Related Disorders 58 , pp. 50-55. 10.1016/j.parkreldis.2018.08.008

Fung, W. and Peall, K. J. 2018. Does 22q11.2 deletion syndrome contribute to the genetic aetiology of Parkinson's disease? Journal of Neurology 265 (10) , pp. 2463-2465. 10.1007/s00415-018-9046-x

Zutt, Rodi, Elting, Jan W., van Zijl, Jonathan C., van der Hoeven, J. Han, Roosendaal, Christiaan M., Gelauff, Jeannette M., Peall, Kathryn J. and Tijssen, Marina A. J. 2018. Electrophysiologic testing aids diagnosis and subtyping of myoclonus. Neurology 90 (8) , e647-e657. 10.1212/WNL.0000000000004996

Peall, Kathryn, Ng, Joanne, Dy, Marisela E, Sharma, Nutan, Pope, Simon, Heales, Simon, Friedman, Jennifer R. and Kurian, Manju A 2017. Low CSF 5-HIAA in myoclonus dystonia. Movement Disorders 32 (11) , pp. 1647-1649. 10.1002/mds.27117

Peall, Kathryn J., Lorentzos, M.S., Heyman, I., Tijssen, M.A.J., Owen, Michael J., Dale, R.C. and Kurian, M.A. 2017. A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders. Neuroscience & Biobehavioral Reviews 80 , pp. 23-35. 10.1016/j.neubiorev.2017.05.014

van de Zande, N. A., Massey, Thomas, McLauchlan, Duncan, Pryce Roberts, A., Zutt, R., Wardle, Mark, Payne, G. C., Clenaghan, Catherine, Tijssen, M. A. J., Rosser, Anne Elizabeth and Peall, Kathryn J. 2017. Clinical characterization of dystonia in adult patients with Huntington's disease. European Journal of Neurology 24 (9) , pp. 1140-1147. 10.1111/ene.13349

van Egmond, Martje E., Lugtenberg, Coen H.A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S.C., Heiner-Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn, Sinke, Richard J., Roze, Emmanuel, Verschuuren-Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A. and de Koning, Tom J. 2017. A post hoc study on gene panel analysis for the diagnosis of dystonia. Movement Disorders -New York- 32 (4) , pp. 569-575. 10.1002/mds.26937

Robertson, Neil and Peall, Kathryn J 2017. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. Journal of Neurology 264 (3) , pp. 616-618. 10.1007/s00415-017-8411-5

Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J., Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F. Lucy and Kurian, Manju A 2016. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 (2) , pp. 223-237. 10.1038/ng.3740

Peall, Kathryn J. and Robertson, Neil 2016. Idiopathic rapid eye movement sleep behaviour disorder: a potential gateway to the development of disease-modifying treatments in neurodegenerative disorders. Journal of Neurology 263 (8) , pp. 1678-1680. 10.1007/s00415-016-8235-8

Massey, Thomas, Pickersgill, Trevor T and Peall, Kathryn J 2016. Nitrous oxide misuse and vitamin B12 deficiency. BMJ Case Reports , 215728. 10.1136/bcr-2016-215728

Zutt, Rodi, Dijk, Joke M., Peall, Kathryn J., Speelman, Hans, Dreissen, Yasmine E. M., Contarino, Maria Fiorella and Tijssen, Marina A. J. 2016. Distribution and coexistence of myoclonus and dystonia as clinical predictors of SGCE mutation status: a pilot study. Frontiers in Neurology 7 , 72. 10.3389/fneur.2016.00072

Peall, Kathryn J, Dijk, Joke M., Saunders-Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael John, Foncke, Elisabeth M. J., Morris, Huw R., Gasser, Thomas, Bressman, Susan, Asmus, Friedrich and Tijssen, Marina A. J. 2016. Psychiatric disorders, myoclonus dystonia andSGCE: an international study. Annals of Clinical and Translational Neurology 3 (1) , pp. 4-11. 10.1002/acn3.263

Peall, Kathryn J., Kuiper, A., de Koning, T.J. and Tijssen, M.A.J. 2015. Non-motor symptoms in genetically defined dystonia: homogenous groups require systematic assessment. Parkinsonism & Related Disorders 21 (9) , pp. 1031-1040. 10.1016/j.parkreldis.2015.07.003

Peall, Kathryn J. and Robertson, Neil 2015. Biomarkers in Alzheimer's Disease: understanding disease trajectory and therapeutic targets. Journal of Neurology 262 (9) , pp. 2195-2197. 10.1007/s00415-015-7881-6

Peall, Kathryn and Kurian, Manju 2015. Benign hereditary chorea: an update. Tremor and Other Hyperkinet Movements 2015 , 3. 10.7916/D8RJ4HM5

Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn J., Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P. and Wood, Nicholas W. 2015. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaa. American Journal of Human Genetics 96 (6) , pp. 938-947. 10.1016/j.ajhg.2015.04.008

Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek, Owen, Michael John and Morris, Huw 2014. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 261 (12) , pp. 2296-2304. 10.1007/s00415-014-7488-3

Peall, Kathryn 2014. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet Journal of Rare Diseases 9 , 177. 10.1186/s13023-014-0177-6

Peall, Kathryn J. and Robertson, Neil 2014. Narcolepsy: environment, genes and treatment. Journal of Neurology 261 (8) , pp. 1644-1646. 10.1007/s00415-014-7435-3

Peall, Kathryn J., Ritz, K., Waite, Adrian, Groen, J. L., Morris, H, Baas, F., Blake, Derek and Tijssen, M. A.. J. 2014. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Neuroscience 272 , pp. 88-91. 10.1016/j.neuroscience.2014.04.034

Peall, Kathryn J., Lumsden, Daniel, Kneen, Rachel, Madhu, Rajesh, Peake, Deirdre, Gibbon, Frances, Lewis, Hilary, Hedderly, Tammy, Meyer, Esther, Robb, Stephanie A, Lynch, Bryan, King, Mary D, Lin, Jean-Pierre, Morris, Huw, Jungbluth, Heinz and Kurian, Manju A 2014. Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum. Developmental Medicine & Child Neurology 56 (7) , pp. 642-8. 10.1111/dmcn.12323

Peall, Kathryn J., Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian James, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Bajaj, Narinder, Lynch, Bryan, Kirov, George, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael John and Morris, Huw Rees 2013. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136 (1) , pp. 294-303. 10.1093/brain/aws308

Peall, Kathryn J. and Robertson, Neil 2013. Parkinsonism, dementia and glucocerebrosidase mutations. Journal of Neurology 260 (5) , pp. 1441-1444. 10.1007/s00415-013-6923-1

Peall, Kathryn J., Waite, Adrian James, Kurian, Manju A., Wardle, Mark, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Pall, Hardev, King, Mary D., Lynch, Timothy, White, Cathy, Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael John and Morris, Huw Rees 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259 , S30-S30.

Peall, Kathryn J. 2012. Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease. PhD Thesis, Cardiff University.
Item availability restricted.

Peall, Kathryn J., Waite, Adrian James, Blake, Derek J., Owen, Michael John and Morris, Huw Rees 2011. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26 (10) , pp. 1939-1942. 10.1002/mds.23791

This list was generated on Fri Dec 6 04:41:11 2019 GMT.

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