• 556 Citations
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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Research Output

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 journalArticle

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 article

    Open Access
  • 1 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
  • 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 journalArticle

    Open Access
  • Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)

    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., Aug 5 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 202.

    Research output: Contribution to journalComment/debate

    Open Access