Browse by Current Cardiff authors

Desjardins, Clément, Nilles, Christelle, Gimeno, Hortensia, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Martino, Davide, Pringsheim, Tamara and Roze, Emmanuel 2025. Nonmotor symptom scales in children with movement disorders. Neurology 105 (9) , e214289. 10.1212/wnl.0000000000214289

Li, Weihua, Lao-Kaim, Nicholas P, Li, Runtian, Martín-Bastida, Antonio, Roussakis, Andreas-Antonios, Searle, Graham E, Valle-Guzman, Natalie, Dayal, Viswas, Athauda, Dilan, Kefalopoulou, Zinovia, Mahlknecht, Philipp, Church, Alistair, Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944, Widner, Håkan, Paul, Gesine, Foltynie, Tom, Barker, Roger A and Piccini, Paola 2025. Mapping the distribution of neurotransmitters to resting-state functional connectivity in Parkinson’s disease. Brain Communications 7 (5) , fcaf308. 10.1093/braincomms/fcaf308

Schalkamp, Ann-Kathrin, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Harrison, Neil A. ORCID: https://orcid.org/0000-0002-9584-3769, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Barnaghi, Payam and Sandor, Cynthia ORCID: https://orcid.org/0000-0002-8905-1052 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117 , 105782. 10.1016/j.ebiom.2025.105782

Martino, Davide, Ramezani, Mehrafarin, Bellows, Steven, Berman, Brian D., Chang, Florence Ching-Fen, Feuerstein, Jeanne, Fung, Victor, Berkmen, Gamze Kilic, Malaty, Irene A., MacIver, Claire, Norris, Scott A., Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Perlmutter, Joel S., Richardson, Sarah Pirio, Wright, Laura J., Goodarzi, Zahra and Jinnah, Hyder A. 2025. Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia. Parkinsonism & Related Disorders 136 , 107891. 10.1016/j.parkreldis.2025.107891

Li, Zongze ORCID: https://orcid.org/0000-0002-9923-7205, Abram, Laura ORCID: https://orcid.org/0009-0005-8078-8209, Cruz Santos, Maria, Petter, Olena and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2025. Transcriptomic disruption and hypoactivity in DYT-SGCE medial ganglionic eminence-patterned inhibitory neurons. Brain , awaf272. 10.1093/brain/awaf272

Barker, Roger A., Lao-Kaim, Nicholas P., Guzman, Natalie Valle, Athauda, Dilan, Bjartmarz, Hjalmar, Björklund, Anders, Church, Alistair, Cutting, Emma, Daft, Danielle, Dayal, Viswas, Dunnett, Stephen ORCID: https://orcid.org/0000-0003-1826-1578, Evans, Amy, Grealish, Shane, Hannaway, Naomi, He, Xiaoling, Hewitt, Sam, Kefalopoulou, Zinovia, Mahlknecht, Philipp, Martín-Bastida, Antonio, Farrell, Krista, Moore, Sarah, Bulstrode, Harry, Nakornchai, Tagore, Nelander-Wahlestedt, Jenny, Roupé, Linnea, Paul, Gesine, Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944, Rosser, Anne ORCID: https://orcid.org/0000-0002-4716-4753, Roca-Fernández, Adriana, Rowlands, Sophie, McGorrian, Anne-Marie, Scherf, Caroline, Vinh, Ngoc Nga, Roberton, Victoria, Kelly, Claire, Lelos, Mariah ORCID: https://orcid.org/0000-0001-7102-055X, Torres, Eduardo, Shires, Kate, Hills, Rachel, Williams, Debbie, Roussakis, Andreas-Antonios, Sibley, Krista, Tyers, Pamela, Wijeyekoon, Ruwani, Williams-Gray, Caroline, Foltynie, Thomas, Piccini, Paola, Morris, Robert, Lazic, Stanley E., Lindvall, Olle, Parmar, Malin, Widner, Hakan and TransEuro consortium 2025. The TransEuro open-label trial of human fetal ventral mesencephalic transplantation in patients with moderate Parkinson's disease. Nature Biotechnology 10.1038/s41587-025-02567-2

Li, Zongze ORCID: https://orcid.org/0000-0002-9923-7205, Abram, Laura ORCID: https://orcid.org/0009-0005-8078-8209 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2024. Deciphering the pathophysiological mechanisms underpinning myoclonus dystonia using pluripotent stem cell-derived cellular models. Cells 13 (18) , 1520. 10.3390/cells13181520

MacIver, Claire L., Jones, Derek ORCID: https://orcid.org/0000-0003-4409-8049, Green, Katy, Szewczyk-Krolikowski, Konrad, Doring, Andre, Tax, Chantal M.W. ORCID: https://orcid.org/0000-0002-7480-8817 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2024. White matter microstructural changes using ultra-strong diffusion gradient MRI in adult-onset idiopathic focal cervical dystonia. Neurology 103 (4) , e209695. 10.1212/WNL.0000000000209695

Bailey, Grace, Rawlings, Anna, Torabi, Fatemeh, Pickrell, W. Owen and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2024. Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: A UK linkage-based study. Journal of Neurology 271 , pp. 3398-3408. 10.1007/s00415-024-12284-6

Schalkamp, Ann-Kathrin, Harrison, Neil A., Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 and Sandor, Cynthia 2024. Digital outcome measures from smartwatch data relate to non-motor features of Parkinson’s disease. npj Parkinson's Disease 10 (1) , 110. 10.1038/s41531-024-00719-w

Green, Katy, MacIver, Claire L., Ebden, Sian, Rees, D. A. ORCID: https://orcid.org/0000-0002-1165-9092 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102 (8) 10.1212/WNL.0000000000209296

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 2024. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. Nature Reviews Neurology 20 (1) , pp. 7-21. 10.1038/s41582-023-00896-x

MacIver, Claire, Bailey, Grace, Luque Laguna, Pedro, Wadon, Megan, Schalkamp, Ann-Kathrin, Sandor, Cynthia ORCID: https://orcid.org/0000-0002-8905-1052, Jones, Derek ORCID: https://orcid.org/0000-0003-4409-8049, Tax, Chantal ORCID: https://orcid.org/0000-0002-7480-8817 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Macro- and micro-structural Insights into primary dystonia A UK Biobank study. Journal of Neurology 10.1007/s00415-023-12086-2

Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944, Berman, Brian, Bruggemann, Norbert, Defazio, Giovanni, Gimeno, Hortensia, Jinnah, H.A., Perlmutter, Joel, Pirio Richardson, Sarah, Roze, Emmanuel, Schrag, Anette, Tinazzi, Michele, Vidailhet, Marie, Wagle-Shukla, Aparna, Worbe, Yulia, Teller, Jan and Martino, Davide 2023. Non-motor symptoms in Dystonia: From diagnosis to treatment. Dystonia 2 , 11860. 10.3389/dyst.2023.11860

Bailey, Grace, Wadon, Megan, Komarzynski, Sandra, Matthews, Clare, Haf Davies, Elin and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study. Brain and Behavior 13 (9) , e2933. 10.1002/brb3.2933

Schalkamp, Ann-Kathrin, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Harrison, Neil A. ORCID: https://orcid.org/0000-0002-9584-3769 and Sandor, Cynthia ORCID: https://orcid.org/0000-0002-8905-1052 2023. Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis. Nature Medicine 29 , pp. 2048-2056. 10.1038/s41591-023-02440-2

Sperandeo, Alessandra, Tamburini, Claudia, Noakes, Zoe ORCID: https://orcid.org/0000-0002-1302-906X, Cabezas de la Fuente, Daniel, Keefe, Francesca, Petter, Olena, Plumbly, William, Clifton, Nicholas ORCID: https://orcid.org/0000-0003-2597-5253, Li, Meng ORCID: https://orcid.org/0000-0002-4803-4643 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Brain 146 (4) , pp. 1523-1541. 10.1093/brain/awac365

Tax, Chantal M. W. ORCID: https://orcid.org/0000-0002-7480-8817, Genc, Sila, MacIver, Claire L., Nilsson, Markus, Wardle, Mark, Szczepankiewicz, Filip, Jones, Derek K. ORCID: https://orcid.org/0000-0003-4409-8049 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Ultra-strong diffusion-weighted MRI reveals cerebellar grey matter abnormalities in movement disorders. NeuroImage: Clinical 38 , 103419. 10.1016/j.nicl.2023.103419

Bailey, Grace, Matthews, Clare, Szewczyk-krolikowski, Konrad, Moore, Peter, Komarzynski, Sandra, Haf Davies, Elin and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2023. Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia. Journal of Neurology 270 , pp. 1759-1769. 10.1007/s00415-022-11490-4

Bailey, Grace A., Rawlings, Anna, Torabi, Fatemeh, Pickrell, William Owen and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2022. Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia. European Journal of Neurology 29 (12) , pp. 3513-3527. 10.1111/ene.15530

Wadon, Megan, Fenner, Eilidh, Kendall, Kimberley ORCID: https://orcid.org/0000-0002-6755-6121, Bailey, Grace, Sandor, Cynthia ORCID: https://orcid.org/0000-0002-8905-1052, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2022. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of Neurology 269 , pp. 6436-6451. 10.1007/s00415-022-11307-4

Bailey, Grace A., Martin, Eva and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2022. Cognitive and neuropsychiatric impairment in dystonia. Current Neurology and Neuroscience Reports 22 , pp. 699-708. 10.1007/s11910-022-01233-3

Pérez-Dueñas, Belén, Gorman, Kathleen, Marcé-Grau, Anna, Ortigoza-Escobar, Juan D., Macaya, Alfons, Danti, Federica R., Barwick, Katy, Papandreou, Apostolos, Ng, Joanne, Meyer, Esther, Mohammad, Shekeeb S., Smith, Martin, Muntoni, Francesco, Munot, Pinki, Uusimaa, Johanna, Vieira, Päivi, Sheridan, Eammon, Guerrini, Renzo, Cobben, Jan, Yilmaz, Sanem, De Grandis, Elisa, Dale, Russell C., Pons, Roser, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Leuzzi, Vincenzo and Kurian, Manju A. 2022. The genetic landscape of complex childhood-onset hyperkinetic movement disorders. Movement Disorders 37 (11) , pp. 2197-2209. 10.1002/mds.29182

MacIver, Claire L., Tax, Chantal M. W. ORCID: https://orcid.org/0000-0002-7480-8817, Jones, Derek K. ORCID: https://orcid.org/0000-0003-4409-8049 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2022. Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings. European Journal of Neurology 29 (11) , pp. 3418-3448. 10.1111/ene.15483

Bailey, Grace, Rawlings, Anna, Torabi, Fatemeh, Pickrell, Owen and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2022. Adult-onset idiopathic dystonia: a national data-linkage study to determine epidemiological, social deprivation and mortality characteristics. European Journal of Neurology 29 (1) , pp. 91-104. 10.1111/ene.15114

MacIver, Claire and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2021. Contribution of multi-modal imaging to our understanding of dystonia pathogenesis. Journal of Neurology 268 (8) , pp. 3043-3045. 10.1007/s00415-021-10696-2

Bailey, Grace A., Hubbard, Emily K., Fasano, Alfonso, Tijssen, Marina A. J., Lynch, Tim, Anderson, Kirstie N. and Peall, Kathryn P. ORCID: https://orcid.org/0000-0003-4749-4944 2021. Sleep disturbance in movement disorders – insights, treatments and challenges. Journal of Neurology, Neurosurgery and Psychiatry 92 (7) , pp. 723-736. 10.1136/jnnp-2020-325546

Wadon, Megan, MacIver, Claire, Winter, Mia and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2021. Internet-based cognitive behavioural therapy as a feasible treatment of adult-onset, focal, isolated, idiopathic cervical dystonia. Clinical Parkinsonism & Related Disorders 5 , 100121. 10.1016/j.prdoa.2021.100121

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 ORCID: https://orcid.org/0000-0003-4749-4944, 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

Young, C. and Peall, K. J. ORCID: https://orcid.org/0000-0003-4749-4944 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

Fearon, Conor, Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944, 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

Cunningham, Adam, Fung, Wilson, Massey, Thomas ORCID: https://orcid.org/0000-0002-9804-2131, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862, Van Den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2020. Movement disorder phenotypes in children with 22q11.2 deletion syndrome. Movement Disorders 35 (7) , pp. 1272-1274. 10.1002/mds.28078

Wadon, Megan E., Winter, Mia and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2020. Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: a feasibility study protocol. Pilot and Feasibility Studies 6 , 100. 10.1186/s40814-020-00641-x

Eggink, Hendriekje, Toonen, Rivka F., van Zijl, Jonathan C., van Egmond, Martje E., Bartels, Anna L., Brandsma, Rick, Contarino, M. Fiorella, Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, 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

Timmers, Elze R., Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, 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

Young, Caitlin, Phillips, Rhiannon ORCID: https://orcid.org/0000-0002-4256-4598, Ebenezer, Louise, Zutt, Rodi and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 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

Jones, Lliwen, Baber, Wagaar, Wardle, Mark, Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909, Morris, Huw, Church, Alistair, Llewelyn, John and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-1826-1578, Peall, K. ORCID: https://orcid.org/0000-0003-4749-4944, Rosser, A. ORCID: https://orcid.org/0000-0002-4716-4753, 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

Cunningham, Adam, Hill, Liam, Mon-Williams, Mark, Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944, Linden, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 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. ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944, 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

Eggink, Hendriekje, Coenen, Maraike A., de Jong, Ronald, Toonen, Rivka F., Eissens, Melanie H., Veenstra, Wencke S., Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, 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. ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944 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 ORCID: https://orcid.org/0000-0003-4749-4944, 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. ORCID: https://orcid.org/0000-0003-4749-4944, Lorentzos, M.S., Heyman, I., Tijssen, M.A.J., Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, 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 ORCID: https://orcid.org/0000-0002-9804-2131, McLauchlan, Duncan, Pryce Roberts, A., Zutt, R., Wardle, Mark, Payne, G. C., Clenaghan, Catherine, Tijssen, M. A. J., Rosser, Anne Elizabeth ORCID: https://orcid.org/0000-0002-4716-4753 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 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 ORCID: https://orcid.org/0000-0003-4749-4944, 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 ORCID: https://orcid.org/0000-0002-5409-4909 and Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944 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 ORCID: https://orcid.org/0000-0003-3239-8415, 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 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 ORCID: https://orcid.org/0000-0002-9804-2131, Pickersgill, Trevor T and Peall, Kathryn J ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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. ORCID: https://orcid.org/0000-0003-4749-4944, Dijk, Joke M., Saunders-Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, 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

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 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 J. ORCID: https://orcid.org/0000-0003-4749-4944, 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 ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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 ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 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

Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2014. Narcolepsy: environment, genes and treatment. Journal of Neurology 261 (8) , pp. 1644-1646. 10.1007/s00415-014-7435-3

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, 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

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Ritz, K., Waite, Adrian, Groen, J. L., Morris, H, Baas, F., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731 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. ORCID: https://orcid.org/0000-0003-4749-4944, 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 ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 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. ORCID: https://orcid.org/0000-0003-4749-4944 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2013. Parkinsonism, dementia and glucocerebrosidase mutations. Journal of Neurology 260 (5) , pp. 1441-1444. 10.1007/s00415-013-6923-1

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, 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. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259 , S30-S30.

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 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. ORCID: https://orcid.org/0000-0003-4749-4944, Waite, Adrian James, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 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