Tine Deconinck

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen, Simone Mandelstam, Arvid Suls et al. · Annals of Neurology · 2011 · 494 citations

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Christian Beetz, Rebecca Schüle, Tine Deconinck et al. · Brain · 2008 · 180 citations · Full text

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Gladys Montenegro, Adriana Rebelo, James W. Connell et al. · Journal of Clinical Investigation · 2012 · 168 citations

Neurodegenerative Diseases, Mendelian Disorder, Er Localization +14

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets et al. · The American Journal of Human Genetics · 2013 · 165 citations · Full text

Motor Neuron Defects, Neurological Disorder, Degenerative Disease +8

Mutations in <i>SACS</i> cause atypical and late-onset forms of ARSACS

Jonathan Baets, Tine Deconinck, Kaat Smets et al. · Neurology · 2010 · 133 citations