Natalia Juliá‐Palacios

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 6 papers. Top paper: “Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder”.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09538-9

N/A

0.438DataRank · unranked

10 citations

Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty +12 more

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Acta Neuropathologica(2020)10.1007/s00401-020-02223-w

N/A

0DataRank · unranked

46 citations

Edgard Verdura, Natalia Juliá‐Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas‐Serra +33 more

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

Research Square(2023)10.21203/rs.3.rs-3111263/v1

N/A

0DataRank · unranked

3 citations

Jean‐Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexander Rotenberg +9 more

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108363

N/A

0DataRank · unranked

11 citations

Mariarita Bertoldi, Nenad Blau, Melissa L. DiBacco, Sarah H. Elsea, Àngels García‐Cazorla +19 more

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

European Journal of Human Genetics(2024)10.1038/s41431-023-01526-2

N/A

0DataRank · unranked

10 citations

Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz +21 more

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109051

N/A

0DataRank · unranked

3 citations

Ellen Hanson, Mariarita Bertoldi, Melissa L. DiBacco, Deniz Aygun, Onur Afacan +12 more