Andrés Ordóñez‐Ugalde

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

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 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell et al. · The American Journal of Human Genetics · 2014 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

<scp>PLA2G6</scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

N. Karagoz, Rebecca Schüle, Adriana Rebelo et al. · Clinical Genetics · 2017 · 46 citations

Life Sciences, Genetics, Neurology +15