Mary Joy Encarnacion

Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

Silke Appel‐Cresswell, Carles Vilariño‐Güell, Mary Joy Encarnacion et al. · Movement Disorders · 2013 · 650 citations

DNAJC13 mutations in Parkinson disease

Carles Vilariño‐Güell, Alex Rajput, Austen J. Milnerwood et al. · Human Molecular Genetics · 2013 · 307 citations · Full text

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

Zhe Wang, A. Dessa Sadovnick, Anthony Traboulsee et al. · Neuron · 2016 · 98 citations · Full text

Neurological Disorder, Neurology, Neuroscience +4

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Carles Vilariño‐Güell, Alexander Zimprich, Filippo Martinelli Boneschi et al. · PLoS Genetics · 2019 · 79 citations · Full text

Neurological Disorder, Exome Sequencing, Genetics +23

Purinergic receptors<i>P2RX4</i>and<i>P2RX7</i>in familial multiple sclerosis

A. Dessa Sadovnick, Ben J. Gu, Anthony Traboulsee et al. · Human Mutation · 2017 · 58 citations · Full text