Sorina Gorcenco

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Elisa Rahikkala et al. · Blood · 2017 · 197 citations · Full text

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

Joel Wallenius, Efthymia Kafantari, Emma Jhaveri et al. · The American Journal of Human Genetics · 2023 · 60 citations · Full text

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Mercedes Prudencio, Héctor García‐Moreno, Karen Jansen‐West et al. · Science Translational Medicine · 2020 · 50 citations · Full text

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

Héctor García‐Moreno, Mercedes Prudencio, Gilbert Thomas‐Black et al. · European Journal of Neurology · 2022 · 47 citations · Full text

Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations

Sorina Gorcenco, Jonna Komulainen‐Ebrahim, Karin Nordborg et al. · Neurology Genetics · 2017 · 34 citations · Full text