Kelly King

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Daniel S. Ory, Elizabeth A. Ottinger, Nicole Y. Farhat et al. · The Lancet · 2017 · 325 citations · Full text

Medicine, Neurology, Pharmacology +9

Sustained response and prevention of damage progression in patients with neonatal‐onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three‐ and five‐year outcomes

Cailin H. Sibley, N. Plass, Joseph Snow et al. · Arthritis & Rheumatism · 2012 · 213 citations · Full text

Medicine, Immunology, Pediatrics +15

Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

Nicole M. Yanjanin, Jorge I. Vélez, Andrea Gropman et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2009 · 200 citations

Life Sciences, Neurology, Neuroscience +17

Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo et al. · Human Mutation · 2009 · 150 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami et al. · Nature Communications · 2017 · 110 citations · Full text

Medicine, Genetics, Molecular Genetics +13