Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

J Clin Invest 119:1595-603 (2009)
DOI:10.1172/JCI39060

Rilstone JJ, Alkhater RA, Minassian BA

Brain dopamine-serotonin vesicular transport disease and its treatment.

N Engl J Med 368:543-50 (2013)
DOI:10.1056/NEJMoa1207281

Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Parkinsonism Relat Disord 94:54-61 (2022)
DOI:10.1016/j.parkreldis.2021.11.030