Mariarita Bertoldi

Biochemistry, Genetics and Molecular BiologyMaterials ScienceNeuroscience

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 8 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

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.70148

N/A

0.104DataRank · unranked

1 citations

Henry H.C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung +7 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

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12735

N/A

0DataRank · unranked

5 citations

Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L. Pearl, Mustafa Sahin +2 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

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Epilepsia(2023)10.1111/epi.17592

N/A

0DataRank · unranked

24 citations

Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin +11 more

α-Hydrazino Acids Inhibit Pyridoxal Phosphate-Dependent Decarboxylases via “Catalytically Correct” Ketoenamine Tautomers: A Special Motif for Chemical Biology and Drug Discovery?

ACS Catalysis(2025)10.1021/acscatal.5c00326

N/A

0DataRank · unranked

0 citations

Yoan Duhoo, Tzanko Doukov, Ambroise Desfosses, Giovanni Bisello, Matthew L. Beio +8 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