Dora Steel

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 110 citations · Full text

Life Sciences, Genetics, Neurology +17

<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Toni S. Pearson, Laura Gilbert, Thomas Opladen et al. · Journal of Inherited Metabolic Disease · 2020 · 88 citations · Full text

Medicine, Human Development, Pediatrics +12

Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

Thomas Wirth, Giacomo Garone, Manju A. Kurian et al. · Movement Disorders · 2022 · 59 citations · Full text

Medicine, Neurology, Neuroscience +12

<i>KIF1A</i>‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

Tarishi Nemani, Dora Steel, Marios Kaliakatsos et al. · Journal of the Peripheral Nervous System · 2020 · 56 citations

Medicine, Neurology, Pediatrics +17