Xilma R Ortiz-González
6PUBLICATIONS
43CO-AUTHORS
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Publications (6)
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|Mar 08, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.Colin A Ellis, Juliette Copeland, Isabella Velez
|Mar 17, 2025
TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons.Marco Flores-Mendez, Jesus A Tintos-Hernández, Leonardo Ramos-Rodriguez
|Jul 29, 2024
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.Marco Flores-Mendez, Laura Ohl, Thomas Roule
|May 06, 2021
ANKRD11 variants: KBG syndrome and beyond.Ilaria Parenti, Mark B Mallozzi, Irina Hüning
|Sep 15, 2020
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia
|Sep 04, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera
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Frequent Collaborators
2 joint publications
Marco Flores-Mendez
1 joint publications
Ilaria Parenti
1 joint publications
Cristina Gervasini
1 joint publications
Emanuele Agolini
1 joint publications
Denise Horn
1 joint publications
A Micheil Innes
1 joint publications
Chiara Leoni
1 joint publications
Sally Ann Lynch
1 joint publications
Milena Mariani
1 joint publications
Donatella Milani
