Katy Barwick

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Katy Barwick, Jane Wright, Saeed Al-Turki et al. · The American Journal of Human Genetics · 2012 · 106 citations · Full text

Neurological Disorder, Synaptic Transmission, Molecular Biology +20

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 · 106 citations · Full text

<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 · 94 citations · Full text

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Emma L. Baple, Reza Maroofian, Barry A. Chioza et al. · The American Journal of Human Genetics · 2013 · 52 citations · Full text

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil et al. · The American Journal of Human Genetics · 2021 · 45 citations · Full text

Developmental Biology, Molecular Neuroscience, Human Developmental Delays +10