Juan Darío Ortigoza‐Escobar

Also affiliated with Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Sant Joan de Déu Research Foundation, ERN GUARD-Heart

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function”.

Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function

Annals of Neurology(2023)10.1002/ana.26758

N/A

0DataRank · unranked

41 citations

W.H. Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Sol Balsells, Jordi Muchart +6 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Diverse faces of GNAO1: mild forms in epilepsy and autism

Journal of Neurology(2024)10.1007/s00415-024-12418-w

N/A

0DataRank · unranked

9 citations

Luca Soliani, Jana Domínguez‐Carral, Duccio Maria Cordelli, Valentina Marchiani, Nerea Gorría-Redondo +4 more

Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease

Genes & Diseases(2025)10.1016/j.gendis.2025.101714

N/A

0DataRank · unranked

1 citations

Jana Domínguez‐Carral, Ángeles Schteinschnaider, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar, W.H. Ludlam

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

Movement Disorders(2025)10.1002/mds.30286

N/A

0DataRank · unranked

1 citations

Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza Mushiba, Naif A. M. Almontashiri +5 more