Beatriz Quintáns

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

Cheng Wang, Yulei Li, Lei Shi et al. · Nature Genetics · 2012 · 407 citations · Full text

Molecular Neuroscience, Signal Transduction, Mendelian Disorder +8

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

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Beatriz Quintáns, Vanesa Álvarez-Iglesias, Antonio Salas et al. · Forensic Science International · 2004 · 183 citations

Biology, Dna Barcoding, Dna Sequencing +14

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

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Ana I. Seixas, Joana R. Loureiro, Cristina Costa et al. · The American Journal of Human Genetics · 2017 · 143 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Genetic Disorder +9