Santosh Mordekar

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

Manju A. Kurian, Juan Zhen, Shuyuan Cheng et al. · Journal of Clinical Investigation · 2009 · 221 citations · Full text

Neurodegenerative Diseases, Homozygous Loss-of-function Mutations, Dopamine Transporter +15

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Manju A. Kurian, Yan Li, Juan Zhen et al. · The Lancet Neurology · 2010 · 207 citations · Full text

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Finbar O’Callaghan, Stuart W. Edwards, Fabienne Dietrich Alber et al. · The Lancet Child & Adolescent Health · 2018 · 161 citations · Full text

Pain Disorders, Hormonal Treatment, Pediatrics +6

Acute idiopathic transverse myelitis in children

Kumaran Deiva, Michael Absoud, Cheryl Hemingway et al. · Neurology · 2014 · 64 citations

<i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

Kyle Metz, Xinchen Teng, Isabelle Coppens et al. · Annals of Neurology · 2018 · 57 citations · Full text