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Bailey, Grace A., Hubbard, Emily K., Fasano, Alfonso, Tijssen, Marina A. J., Lynch, Tim, Anderson, Kirstie N. and Peall, Kathryn P.
2021.
Sleep disturbance in movement disorders – insights, treatments and challenges.
Journal of Neurology, Neurosurgery and Psychiatry
Item availability restricted. |
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Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy ES, Burke, Derek, Demailly, Diane, Kumar, Kishore R, Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik?Jan, Tijssen, Marina A, Verschuuren, Corien, Egmond, Martje E, Flowers, Joanna M, McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I, Gonzalez-Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M, Peall, Kathryn J, Bötzel, Kai, Koch, Jan C, Kmiec, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J, Sue, Carolyn M, Cif, Laura, Mencacci, Niccolò E, Anderson, Glenn, Kurian, Manju A and Winkelmann, Juliane
2020.
Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
88
(5)
, pp. 867-877.
10.1002/ana.25879
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Young, C. and Peall, K. J.
2020.
Reply to comment on: Management of Parkinson’s disease during pregnancy: literature review and multi-disciplinary input.
Movement Disorders Clinical Practice
7
(7)
, p. 882.
10.1002/mdc3.13047
Item availability restricted. |
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Fearon, Conor, Peall, Kathryn J, Vidailhe, Marie and Fasano, Alfonso
2020.
Medical management of myoclonus-dystonia and implications for underlying pathophysiology.
Parkinsonism and Related Disorders
77
, pp. 48-56.
10.1016/j.parkreldis.2020.06.016
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Cunningham, Adam, Fung, Wilson, Massey, Thomas, Hall, Jeremy, Owen, Michael, Van Den Bree, Marianne and Peall, Kathryn
2020.
Movement disorder phenotypes in children with 22q11.2 deletion syndrome.
Movement Disorders
35
(7)
, pp. 1272-1274.
10.1002/mds.28078
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Eggink, Hendriekje, Toonen, Rivka F., van Zijl, Jonathan C., van Egmond, Martje E., Bartels, Anna L., Brandsma, Rick, Contarino, M. Fiorella, Peall, Kathryn J., van Dijk, J. Marc C., Oterdoom, D. L. Marinus, Beudel, Martijn and Tijssen, Marina A. J.
2020.
The effectiveness of deep brain stimulation in dystonia: a patient-centered approach.
Tremor and Other Hyperkinetic Movements
10
, 2.
10.5334/tohm.69
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Timmers, Elze R., Peall, Kathryn J., Dijk, Joke M., Zutt, Rodi, Tijssen, Cees C., Bergmans, Bruno, Foncke, Elisabeth M. and Tijssen, Marina A.J.
2020.
Natural course of Myoclonus-Dystonia in adulthood: stable motor signs but increased psychiatry.
Movement Disorders
35
(6)
, pp. 1077-1078.
10.1002/mds.28033
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Young, Caitlin, Phillips, Rhiannon, Ebenezer, Louise, Zutt, Rodi and Peall, Kathryn
2020.
Management of Parkinson’s Disease during pregnancy: literature review and multi-disciplinary input.
Movement Disorders Clinical Practice
7
(4)
, pp. 419-430.
10.1002/mdc3.12925
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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
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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 |
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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
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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
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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 |
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Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T. and Crosby, Andrew H.
2019.
Copy number variation of LINGO1 in familial dystonic tremor.
Neurology Genetics
5
(1)
, e307.
10.1212/NXG.0000000000000307
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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 |
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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 |
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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
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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 |
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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 |
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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 |
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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 |
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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 |
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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.
2017.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
49
, pp. 223-237.
10.1038/ng.3740
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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 |
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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
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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 |
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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 and SGCE: an international study.
Annals of Clinical and Translational Neurology
3
(1)
, pp. 4-11.
10.1002/acn3.263
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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 |
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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 |
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Peall, Kathryn and Kurian, Manju
2015.
Benign hereditary chorea: an update.
Tremor and Other Hyperkinet Movements
2015
, 3.
10.7916/D8RJ4HM5
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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 |
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Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., 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 R. 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 |
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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 |
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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 |
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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 R., Jungbluth, Heinz and Kurian, Manju A. 2014. Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum. Developmental Medicine and Child Neurology 56 (7) , pp. 642-6488. 10.1111/dmcn.12323 |
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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 |
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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 |
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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 |
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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. |
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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. |
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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 |
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