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1

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina, de Koning, Tom J

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 366 KB

english, 2014

2

The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children

Kuiper, Marieke Johanna, Vrijenhoek, Loïs, Brandsma, Rick, Lunsing, Roelineke J, Burger, Huibert, Eggink, Hendriekje, Peall, Kathryn J, Contarino, Maria Fiorella, Speelman, Johannes D, Tijssen, Marina

Journal:

Movement Disorders Clinical Practice

Year:

2016

Language:

english

File:

PDF, 170 KB

english, 2016

3

Repurposed drugs for use in Parkinson’s disease

Smith, Matthew D., Peall, Kathryn J.

Journal:

Journal of Neurology

Year:

2018

Language:

english

File:

PDF, 527 KB

english, 2018

4

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review

Kathryn J. Peall, Adrian J. Waite, Derek J. Blake, Mike J. Owen, Huw R. Morris

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 678 KB

english, 2011

5

Parkinsonism, dementia and glucocerebrosidase mutations

Kathryn Peall, Neil P. Robertson

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

6

Benign hereditary chorea related to NKX2.1 : expansion of the genotypic and phenotypic spectrum

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, Jea

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 175 KB

english, 2014

7

SGCEand myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

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,

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 464 KB

english, 2014

8

Psychiatric disorders, myoclonus dystonia and SGCE : an international study

Peall, Kathryn J., Dijk, Joke M., Saunders-Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael J., Foncke, Elisabeth M. J., Morris, Huw R., Gasser

Journal:

Annals of Clinical and Translational Neurology

Year:

2016

Language:

english

File:

PDF, 152 KB

english, 2016

9

The long-term neuropsychological features of basal ganglia encephalitis

J Peall, Kathryn

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 30 KB

english, 2017

10

Low CSF 5-HIAA in Myoclonus Dystonia

Peall, Kathryn J., Ng, Joanne, Dy, Marisela E., Sharma, Nutan, Pope, Simon, Heales, Simon, Friedman, Jennifer R., Kurian, Manju A.

Journal:

Movement Disorders

Year:

2017

Language:

english

File:

PDF, 379 KB

english, 2017

11

PO096 Myoclonus dystonia: bnsu surveillance project

Morgan, Dafydd, Peall, Kathryn

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

12

NO LAUGHING MATTER

Jones, Lliwen, Thomas, Rhys, Peall, Kathryn, Massey, Thomas, Moat, Stuart, Corkill, Robin, Pickersgill, Trevor

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 47 KB

english, 2016

13

Electrophysiologic testing aids diagnosis and subtyping of myoclonus

Zutt, Rodi, Elting, Jan W., van Zijl, Jonathan C., van der Hoeven, J. Han, Roosendaal, Christiaan M., Gelauff, Jeannette M., Peall, Kathryn J., Tijssen, Marina A.J.

Journal:

Year:

2018

Language:

english

File:

PDF, 277 KB

english, 2018

14

E4 Clinical characterisation of dystonia in patients with huntington’s disease: Abstract E4 Table 1

de Zande, Nadine A van, Massey, Tom H, McLauchlan, Duncan, Pryce Roberts, Adele, Rosser, Anne E, Peall, Kathryn J

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2016

Language:

english

File:

PDF, 66 KB

english, 2016

15

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

Zutt, Rodi, Dijk, Joke M., Peall, Kathryn J., Speelman, Hans, Dreissen, Yasmine E. M., Contarino, Maria Fiorella, Tijssen, Marina A. J.

Journal:

Frontiers in Neurology

Year:

2016

Language:

english

File:

PDF, 143 KB

english, 2016

16

Motor and non-motor determinants of health-related quality of life in young dystonia patients

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, Tijssen, Marina AJ.

Journal:

Parkinsonism & Related Disorders

Year:

2018

Language:

english

File:

PDF, 230 KB

english, 2018

17

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

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., K

Journal:

Movement Disorders

Year:

2019

Language:

english

File:

PDF, 214 KB

english, 2019

18

Copy number variation of LINGO1 in familial dystonic tremor

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,

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 401 KB

2019

19

Copy number variation of LINGO1 in familial dystonic tremor

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,

Journal:

Neurology: Genetics

Year:

2019

Language:

english

File:

PDF, 401 KB

english, 2019

20

Management of Parkinson's Disease during pregnancy: literature review and multiâdisciplinary input

Young, Caitlin, Phillips, Rhiannon, Ebenezer, Louise, Zutt, Rodi, Peall, Kathryn J

Journal:

Movement Disorders Clinical Practice

Year:

2020

File:

PDF, 369 KB

2020

21

Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry

Timmers, Elze R., Peall, Kathryn J., Dijk, Joke M., Zutt, Rodi, Tijssen, Cees C., Bergmans, Bruno, Foncke, Elisabeth M., Tijssen, Marina A.J.

Journal:

Movement Disorders

Year:

2020

Language:

english

File:

PDF, 146 KB

english, 2020

22

Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome

Cunningham, Adam C., Fung, Wilson, Massey, Thomas H., Hall, Jeremy, Owen, Michael J., Bree, Marianne B. M., Peall, Kathryn J.

Journal:

Movement Disorders

Year:

2020

File:

PDF, 174 KB

2020

23

Medical management of myoclonus-dystonia and implications for underlying pathophysiology

Fearon, Conor, Peall, Kathryn J., Vidailhet, Marie, Fasano, Alfonso

Journal:

Parkinsonism & Related Disorders

Year:

2020

File:

PDF, 1.11 MB

2020

24

Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: a feasibility study protocol

Wadon, Megan E., Winter, Mia, Peall, Kathryn J.

Journal:

Pilot and Feasibility Studies

Year:

2020

File:

PDF, 1.44 MB

2020

25

Reply to Comment on: Management of Parkinson's Disease During Pregnancy

Young, Caitlin, Peall, Kathryn J.

Journal:

Movement Disorders Clinical Practice

Year:

2020

File:

PDF, 118 KB

2020

26

THUR 104âGlobal MD registry and dystonia non-motor symptoms study

Zehra, Yilmaz, Kathryn, Peall

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2018

File:

PDF, 48 KB

2018