Publications by authors named "Thomas Bourinaris"

11Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

Eur J Hum Genet 2020 Sep 15. Epub 2020 Sep 15.

William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.

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http://dx.doi.org/10.1038/s41431-020-00720-wDOI Listing
September 2020

Prevalence of hexanucleotide repeat expansion in Greek patients with sporadic ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2020 08 26;21(5-6):470-472. Epub 2020 Apr 26.

Faculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.

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http://dx.doi.org/10.1080/21678421.2020.1757115DOI Listing
August 2020

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

J Neurol Sci 2020 Apr 11;411:116669. Epub 2020 Jan 11.

University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.

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http://dx.doi.org/10.1016/j.jns.2020.116669DOI Listing
April 2020

Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.

Neurol Sci 2020 Apr 6;41(4):851-857. Epub 2019 Dec 6.

Neurogenetics, Institute of Neurology, University College London, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s10072-019-04113-wDOI Listing
April 2020

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Mov Disord Clin Pract 2018 Nov-Dec;5(6):575-585. Epub 2018 Nov 8.

Department of Molecular Neuroscience Institute of Neurology, University College London London, WC1N 3BG UK.

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http://dx.doi.org/10.1002/mdc3.12677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277362PMC
November 2018