Toni Pearson

Associate Professor of Neurology

    • Source: Scopus
    20082020

    Research output per year

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    Personal profile

    Research interests

    Pediatric neurotransmitter disorders, such as dopa-responsive dystonia and aromatic amino acid decarboxylase (AADC) deficiency, and the characterization of childhood movement disorder syndromes including dystonia and parkinsonism.

    Areas of Clinical Interest

    pediatric cerebral palsy; pediatric neurology, pediatric movement disorders; chorea, ataxia, parkinsonism, tremor, myoclonus, stereotypies

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    • AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

      Pearson, T. S., Gilbert, L., Opladen, T., Garcia-Cazorla, A., Mastrangelo, M., Leuzzi, V., Tay, S. K. H., Sykut-Cegielska, J., Pons, R., Mercimek-Andrews, S., Kato, M., Lücke, T., Oppebøen, M., Kurian, M. A., Steel, D., Manti, F., Meeks, K. D., Jeltsch, K. & Flint, L., Sep 1 2020, In: Journal of Inherited Metabolic Disease. 43, 5, p. 1121-1130 10 p.

      Research output: Contribution to journalArticlepeer-review

      Open Access
    • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

      Opladen, T., López-Laso, E., Cortès-Saladelafont, E., Pearson, T. S., Sivri, H. S., Yildiz, Y., Assmann, B., Kurian, M. A., Leuzzi, V., Heales, S., Pope, S., Porta, F., García-Cazorla, A., Honzík, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G. F., Horvath, G. & 10 others, Thöny, B., Scholl-Bürgi, S., Burlina, A., Verbeek, M. M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhánek, J. & Kuseyri Hübschmann, O., May 26 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 126.

      Research output: Contribution to journalReview articlepeer-review

      Open Access
      4 Scopus citations
    • Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis (Frontiers in Neuroscience, (2019), 13, 10.3389/fnins.2019.00394)

      Kennedy, A. D., Pappan, K. L., Donti, T., Delgado, M. R., Shinawi, M., Pearson, T. S., Lalani, S. R., Craigen, W. J., Sutton, V. R., Evans, A. M., Sun, Q., Emrick, L. T. & Elsea, S. H., Jan 29 2020, In: Frontiers in Neuroscience. 13, 1344.

      Research output: Contribution to journalComment/debate

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

      Ebrahimi-Fakhari, D., Teinert, J., Behne, R., Wimmer, M., D'Amore, A., Eberhardt, K., Brechmann, B., Ziegler, M., Jensen, D. M., Nagabhyrava, P., Geisel, G., Carmody, E., Shamshad, U., Dies, K. A., Yuskaitis, C. J., Salussolia, C. L., Ebrahimi-Fakhari, D., Pearson, T. S., Saffari, A., Ziegler, A. & 68 others, Kölker, S., Volkmann, J., Wiesener, A., Bearden, D. R., Lakhani, S., Segal, D., Udwadia-Hegde, A., Martinuzzi, A., Hirst, J., Perlman, S., Takiyama, Y., Xiromerisiou, G., Vill, K., Walker, W. O., Shukla, A., Dubey Gupta, R., Dahl, N., Aksoy, A., Verhelst, H., Delgado, M. R., Kremlikova Pourova, R., Sadek, A. A., Elkhateeb, N. M., Blumkin, L., Brea-Fernández, A. J., Dacruz-Álvarez, D., Smol, T., Ghoumid, J., Miguel, D., Heine, C., Schlump, J. U., Langen, H., Baets, J., Bulk, S., Darvish, H., Bakhtiari, S., Kruer, M. C., Lim-Melia, E., Aydinli, N., Alanay, Y., El-Rashidy, O., Nampoothiri, S., Patel, C., Beetz, C., Bauer, P., Yoon, G., Guillot, M., Miller, S. P., Bourinaris, T., Houlden, H., Robelin, L., Anheim, M., Alamri, A. S., Mahmoud, A. A. H., Inaloo, S., Habibzadeh, P., Faghihi, M. A., Jansen, A. C., Brock, S., Roubertie, A., Darras, B. T., Agrawal, P. B., Santorelli, F. M., Gleeson, J., Zaki, M. S., Sheikh, S. I., Bennett, J. T. & Sahin, M., Oct 1 2020, In: Brain. 143, 10, p. 2929-2944 16 p.

      Research output: Contribution to journalArticlepeer-review

    • DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia

      Ng, J., Cortès-Saladelafont, E., Abela, L., Termsarasab, P., Mankad, K., Sudhakar, S., Gorman, K. M., Heales, S. J. R., Pope, S., Biassoni, L., Csányi, B., Cain, J., Rakshi, K., Coutts, H., Jayawant, S., Jefferson, R., Hughes, D., García-Cazorla, À., Grozeva, D., Raymond, F. L. & 5 others, Pérez-Dueñas, B., De Goede, C., Pearson, T. S., Meyer, E. & Kurian, M. A., Jan 1 2020, (Accepted/In press) In: Movement Disorders.

      Research output: Contribution to journalArticlepeer-review

      Open Access
      1 Scopus citations
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