João Ricardo Mendes de Oliveira

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Agnes L. Nishimura, Miguel Mitne‐Neto, Helga Cristina Almeida da Silva et al. · The American Journal of Human Genetics · 2004 · 979 citations · Full text

Life Sciences, Neurology, Neuroscience +12

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Cheng Wang, Yulei Li, Lei Shi et al. · Nature Genetics · 2012 · 412 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 328 citations · Full text

Life Sciences, Genetics, Neuroscience +11

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

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 147 citations · Full text

Life Sciences, Genetics, Neurology +10