Martin Paucar

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 324 citations · Full text

Molecular Neuroscience, Neurology, Neuroscience +7

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 306 citations · Full text

Neurodegenerative Diseases, Altered Phosphate Export, Mendelian Disorder +6

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Andreas Traschütz, Andrea Cortese, Selina Reich et al. · Neurology · 2021 · 159 citations · Full text

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 145 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +8

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Autophagy +8