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Items: 31

1.

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

Timmers ER, Peall KJ, Dijk JM, Zutt R, Tijssen CC, Bergmans B, Foncke EM, Tijssen MAJ.

Mov Disord. 2020 Mar 25. doi: 10.1002/mds.28033. [Epub ahead of print] No abstract available.

PMID:
32212347
2.

A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.

Jones LA, Baber W, Wardle M, Robertson NP, Morris HR, Church A, Llewelyn JG, Peall KJ.

Tremor Other Hyperkinet Mov (N Y). 2019 Oct 1;9. doi: 10.7916/tohm.v0.677. eCollection 2019.

3.

Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome.

Cunningham AC, Hill L, Mon-Williams M, Peall KJ, Linden DEJ, Hall J, Owen MJ, van den Bree MBM.

J Neurodev Disord. 2019 Jun 10;11(1):8. doi: 10.1186/s11689-019-9271-3.

4.

What is the role of the cerebellum in the pathophysiology of dystonia?

Fung WKW, Peall KJ.

J Neurol. 2019 Jun;266(6):1549-1551. doi: 10.1007/s00415-019-09344-7. No abstract available.

5.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

van Egmond ME, Contarino MF, Lugtenberg CHA, Peall KJ, Brouwer OF, Fung VSC, Roze E, Stewart RE, Willemsen MA, Wolf NI, de Koning TJ, Tijssen MA.

Mov Disord. 2019 Mar;34(3):317-320. doi: 10.1002/mds.27627. Epub 2019 Feb 6. No abstract available.

PMID:
30726575
6.

Dentatorubral-pallidoluysian Atrophy: An Update.

Carroll LS, Massey TH, Wardle M, Peall KJ.

Tremor Other Hyperkinet Mov (N Y). 2018 Oct 1;8:577. doi: 10.7916/D81N9HST. eCollection 2018. Review.

7.

Does 22q11.2 deletion syndrome contribute to the genetic aetiology of Parkinson's disease?

Fung W, Peall KJ.

J Neurol. 2018 Oct;265(10):2463-2465. doi: 10.1007/s00415-018-9046-x. No abstract available.

8.

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

Eggink H, Coenen MA, de Jong R, Toonen RF, Eissens MH, Veenstra WS, Peall KJ, Sival DA, Elema A, Tijssen MA.

Parkinsonism Relat Disord. 2019 Jan;58:50-55. doi: 10.1016/j.parkreldis.2018.08.008. Epub 2018 Aug 29.

PMID:
30181088
9.

Repurposed drugs for use in Parkinson's disease.

Smith MD, Peall KJ.

J Neurol. 2018 Mar;265(3):728-730. doi: 10.1007/s00415-018-8772-4. No abstract available.

PMID:
29423610
10.

Electrophysiologic testing aids diagnosis and subtyping of myoclonus.

Zutt R, Elting JW, van Zijl JC, van der Hoeven JH, Roosendaal CM, Gelauff JM, Peall KJ, Tijssen MAJ.

Neurology. 2018 Feb 20;90(8):e647-e657. doi: 10.1212/WNL.0000000000004996. Epub 2018 Jan 19.

11.

Low CSF 5-HIAA in Myoclonus Dystonia.

Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA.

Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. No abstract available.

12.

Clinical characterization of dystonia in adult patients with Huntington's disease.

van de Zande NA, Massey TH, McLauchlan D, Pryce Roberts A, Zutt R, Wardle M, Payne GC, Clenaghan C, Tijssen MAJ, Rosser AE, Peall KJ.

Eur J Neurol. 2017 Sep;24(9):1140-1147. doi: 10.1111/ene.13349. Epub 2017 Jun 29.

PMID:
28661018
13.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
14.

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders.

Peall KJ, Lorentzos MS, Heyman I, Tijssen MAJ, Owen MJ, Dale RC, Kurian MA.

Neurosci Biobehav Rev. 2017 Sep;80:23-35. doi: 10.1016/j.neubiorev.2017.05.014. Epub 2017 May 18. Review.

PMID:
28528196
15.

Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms.

Peall KJ, Robertson NP.

J Neurol. 2017 Mar;264(3):616-618. doi: 10.1007/s00415-017-8411-5. No abstract available.

16.

A post hoc study on gene panel analysis for the diagnosis of dystonia.

van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ.

Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10.

PMID:
28186668
17.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
18.

Idiopathic rapid eye movement sleep behaviour disorder: a potential gateway to the development of disease-modifying treatments in neurodegenerative disorders.

Peall KJ, Robertson NR.

J Neurol. 2016 Aug;263(8):1678-80. doi: 10.1007/s00415-016-8235-8. Review. No abstract available.

19.

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

Zutt R, Dijk JM, Peall KJ, Speelman H, Dreissen YE, Contarino MF, Tijssen MA.

Front Neurol. 2016 May 13;7:72. doi: 10.3389/fneur.2016.00072. eCollection 2016.

20.

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

Kuiper MJ, Vrijenhoek L, Brandsma R, Lunsing RJ, Burger H, Eggink H, Peall KJ, Contarino MF, Speelman JD, Tijssen MAJ, Sival DA.

Mov Disord Clin Pract. 2016 May 3;3(6):580-586. doi: 10.1002/mdc3.12339. eCollection 2016 Nov-Dec.

21.

Psychiatric disorders, myoclonus dystonia and SGCE: an international study.

Peall KJ, Dijk JM, Saunders-Pullman R, Dreissen YE, van Loon I, Cath D, Kurian MA, Owen MJ, Foncke EM, Morris HR, Gasser T, Bressman S, Asmus F, Tijssen MA.

Ann Clin Transl Neurol. 2015 Nov 20;3(1):4-11. doi: 10.1002/acn3.263. eCollection 2016 Jan.

22.

Biomarkers in Alzheimer's disease: understanding disease trajectory and therapeutic targets.

Peall KJ, Robertson NP.

J Neurol. 2015 Sep;262(9):2195-7. doi: 10.1007/s00415-015-7881-6. No abstract available.

PMID:
26303833
23.

Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment.

Peall KJ, Kuiper A, de Koning TJ, Tijssen MA.

Parkinsonism Relat Disord. 2015 Sep;21(9):1031-40. doi: 10.1016/j.parkreldis.2015.07.003. Epub 2015 Jul 17. Review.

PMID:
26210889
24.

Benign Hereditary Chorea: An Update.

Peall KJ, Kurian MA.

Tremor Other Hyperkinet Mov (N Y). 2015 Jul 14;5:314. doi: 10.7916/D8RJ4HM5. eCollection 2015. Review.

25.

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

Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, Sival DA, Tijssen MA, de Koning TJ.

Orphanet J Rare Dis. 2014 Nov 26;9:177. doi: 10.1186/s13023-014-0177-6.

26.

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

Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488-3. Epub 2014 Sep 11.

27.

Narcolepsy: environment, genes and treatment.

Peall KJ, Robertson NP.

J Neurol. 2014 Aug;261(8):1644-6. doi: 10.1007/s00415-014-7435-3. No abstract available.

PMID:
25034273
28.

SGCZ mutations are unlikely to be associated with myoclonus dystonia.

Peall KJ, Ritz K, Waite AJ, Groen JL, Morris HR, Baas F, Blake DJ, Tijssen MA.

Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034. Epub 2014 Apr 30.

PMID:
24792710
29.

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

Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA.

Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.

30.

SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR.

Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308.

31.

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

Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR.

Mov Disord. 2011 Aug 15;26(10):1939-42. doi: 10.1002/mds.23791. Epub 2011 Jun 28. Review.

PMID:
21713999

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