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Ngoh A, Bras J, Guerreiro R, et al. . Tremor Other Hyperkinet Mov (N Y). 2017;7:452doi: 10.7916/D8Q52VBV.
Ngoh, A., Bras, J., Guerreiro, R., McTague, A., Ng, J., Meyer, E., Chong, W. K., Boyd, S., MacLellan, L., Kirkpatrick, M., & Kurian, M. A. (2017). . Tremor and other hyperkinetic movements (New York, N.Y.), 7452. https://doi.org/10.7916/D8Q52VBV
Ngoh, Adeline, et al. "." Tremor and other hyperkinetic movements (New York, N.Y.) vol. 7 (2017): 452. doi: https://doi.org/10.7916/D8Q52VBV
Ngoh A, Bras J, Guerreiro R, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA. . Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017. PMID: 28428906; PMCID: PMC5395678.
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Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017.

[No title available]

Tremor and other hyperkinetic movements (New York, N.Y.)

Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A Kurian

Affiliations

  1. Neurosciences Unit, University College London, Institute of Child Health, London, UK.
  2. Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  3. Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  4. Department of Medical Sciences and Institute of Biomedicine - iBiMED, University of Aveiro, Aveiro, Portugal.
  5. Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  6. Department of Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  7. NHS Highland, UK.
  8. Tayside Children's Hospital, Dundee, UK.

PMID: 28428906 PMCID: PMC5395678 DOI: 10.7916/D8Q52VBV

Abstract

BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.

CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in

DISCUSSION: We propose that

Keywords: TBC1D24; myoclonus

Conflict of interest statement

Funding: A.N. is funded by a Guarantors of Brain Entry Fellowship and an Action Medical Research Training Fellowship. J.B. and R.G.’s work is supported by Fellowships from the Alzheimer’s Society. A.M

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