Diego Martinelli

7.8k total citations · 1 hit paper
105 papers, 3.0k citations indexed

About

Diego Martinelli is a scholar working on Molecular Biology, Clinical Biochemistry and Rheumatology. According to data from OpenAlex, Diego Martinelli has authored 105 papers receiving a total of 3.0k indexed citations (citations by other indexed papers that have themselves been cited), including 63 papers in Molecular Biology, 50 papers in Clinical Biochemistry and 24 papers in Rheumatology. Recurrent topics in Diego Martinelli's work include Metabolism and Genetic Disorders (50 papers), Mitochondrial Function and Pathology (27 papers) and Folate and B Vitamins Research (16 papers). Diego Martinelli is often cited by papers focused on Metabolism and Genetic Disorders (50 papers), Mitochondrial Function and Pathology (27 papers) and Folate and B Vitamins Research (16 papers). Diego Martinelli collaborates with scholars based in Italy, United States and Germany. Diego Martinelli's co-authors include Carlo Dionisi‐Vici, Enrico Bertini, Vicente Rubio, Johannes Häberle, Rosalba Carrozzo, Martina Huemer, Marjorie Dixon, René Santer, Martin Lindner and Daniela Karall and has published in prestigious journals such as Analytical Chemistry, Brain and Neurology.

In The Last Decade

Diego Martinelli

96 papers receiving 2.9k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

2019 268 citations Johannes Häberle, Alberto Burlina et al. Journal of Inherited Metabolic Disease profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Diego Martinelli Italy	30	1.5k	1.4k	433	421	417	105	3.0k
Turgay Coşkun Türkiye	27	1.1k 0.7×	1.4k 1.0×	401 0.9×	600 1.4×	525 1.3×	209	2.7k
Cary O. Harding United States	33	1.9k 1.3×	2.0k 1.5×	416 1.0×	1.1k 2.6×	334 0.8×	120	3.4k
Ute Spiekerkoetter Germany	30	1.5k 1.0×	1.7k 1.2×	483 1.1×	787 1.9×	228 0.5×	111	2.6k
Ayman W. El‐Hattab United Arab Emirates	33	2.6k 1.7×	1.5k 1.1×	252 0.6×	441 1.0×	279 0.7×	103	3.8k
Guy Touati France	33	1.4k 0.9×	1.9k 1.4×	434 1.0×	540 1.3×	348 0.8×	94	3.7k
Johan L.K. Van Hove United States	32	2.2k 1.5×	2.0k 1.4×	466 1.1×	732 1.7×	552 1.3×	93	3.8k
Toshihiro Ohura Japan	27	1.5k 1.0×	1.8k 1.3×	691 1.6×	654 1.6×	575 1.4×	90	3.0k
Jean Marie Saudubray France	35	1.9k 1.3×	2.1k 1.5×	337 0.8×	638 1.5×	352 0.8×	88	3.5k
Enrico Zammarchi Italy	28	1.7k 1.1×	1.1k 0.8×	412 1.0×	626 1.5×	243 0.6×	101	3.2k
F. Maillot France	22	837 0.5×	1.2k 0.9×	523 1.2×	962 2.3×	165 0.4×	150	2.3k

Countries citing papers authored by Diego Martinelli

Since Specialization

Citations

This map shows the geographic impact of Diego Martinelli's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Diego Martinelli with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Diego Martinelli more than expected).

Fields of papers citing papers by Diego Martinelli

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Diego Martinelli. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Diego Martinelli. The network helps show where Diego Martinelli may publish in the future.

Co-authorship network of co-authors of Diego Martinelli

This figure shows the co-authorship network connecting the top 25 collaborators of Diego Martinelli. A scholar is included among the top collaborators of Diego Martinelli based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Diego Martinelli. Diego Martinelli is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Alves, Cesar, Maria Camilla Rossi‐Espagnet, Francisco A. Perez, et al.. (2025). Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients. American Journal of Neuroradiology. 46(6). 1272–1281. 1 indexed citations

Hiếu, Lê Văn, et al.. (2025). Fractional 1064 nm Nd:YAG picosecond laser for Asian skin rejuvenation: clinical efficacy and the role of photoprotective behaviours. Lasers in Medical Science. 40(1). 209–209.

Pietrobattista, Andrea, Diego Martinelli, Marco Spada, & Carlo Dionisi‐Vici. (2025). The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives. Journal of Inherited Metabolic Disease. 48(6). e70100–e70100.

Cairoli, Sara, Francesca Romana Lepri, Lorenzo Orazi, et al.. (2024). Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect. Journal of Inherited Metabolic Disease. 48(1). e12787–e12787. 1 indexed citations

Martinelli, Diego, Evelina Maines, Daniela Longo, et al.. (2023). Neurologic outcome following liver transplantation for methylmalonic aciduria. Journal of Inherited Metabolic Disease. 46(3). 450–465. 16 indexed citations

Maines, Evelina, Roberto Franceschi, Diego Martinelli, et al.. (2021). Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature. HORMONES. 20(4). 623–640. 9 indexed citations

Diociaiuti, Andrea, Diego Martinelli, Francesco Nicita, et al.. (2021). Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. Genes. 12(3). 343–343. 9 indexed citations

Opladen, Thomas, Florian Gleich, Viktor Kožich, et al.. (2021). U-IMD: the first Unified European registry for inherited metabolic diseases. Orphanet Journal of Rare Diseases. 16(1). 95–95. 16 indexed citations

Baban, Anwar, Corrado Di Mambro, Rachele Adorisio, et al.. (2021). Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. Biomolecules. 11(11). 1578–1578. 6 indexed citations

10.

Ardissone, Anna, Claudio Bruno, Daria Diodato, et al.. (2021). Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases. Orphanet Journal of Rare Diseases. 16(1). 413–413. 17 indexed citations

11.

Landolt, Markus A., Matthias R. Baumgartner, Stefan Kölker, et al.. (2020). Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set. Journal of Inherited Metabolic Disease. 44(1). 215–225. 22 indexed citations

12.

Martinelli, Diego, et al.. (2020). CUGC for lysinuric protein intolerance (LPI). European Journal of Human Genetics. 28(8). 1129–1134. 3 indexed citations

13.

Mambro, Corrado Di, Massimo Stefano Silvetti, Anwar Baban, et al.. (2020). Progressive involvement of cardiac conduction system in paediatric patients with Kearns–Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?. EP Europace. 23(6). 948–957. 16 indexed citations

14.

Agolini, Emanuele, Claudio Cherchi, Emanuele Bellacchio, et al.. (2019). Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. Clinical Genetics. 97(4). 649–654. 4 indexed citations

15.

Mostile, Giovanni, Rita Barone, Alessandra Nicoletti, et al.. (2019). Hyperkinetic movement disorders in congenital disorders of glycosylation. European Journal of Neurology. 26(9). 1226–1234. 16 indexed citations

16.

Rotoli, Bianca Maria, Amelia Barilli, Filippo Ingoglia, et al.. (2019). Analysis of LPI-causing mutations on y+LAT1 function and localization. Orphanet Journal of Rare Diseases. 14(1). 63–63. 5 indexed citations

17.

Tripodi, Domenico, Diego Martinelli, Marco Pasini, Maria Rita Giuca, & Simonetta D’Ercole. (2016). Black Stains: a microbiological analysis and a view on familiarity and susceptibility to tooth decay of patients in childhood.. PubMed. 17(4). 261–266. 7 indexed citations

18.

Baranello, Giovanni, Enrico Alfei, Diego Martinelli, et al.. (2014). Hyperargininemia: 7-Month Follow-Up Under Sodium Benzoate Therapy in an Italian Child Presenting Progressive Spastic Paraparesis, Cognitive Decline, and Novel Mutation in ARG1 Gene. Pediatric Neurology. 51(3). 430–433. 9 indexed citations

19.

Häberle, Johannes, Nathalie Boddaert, Alberto Burlina, et al.. (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases. 7(1). 32–32. 399 indexed citations

20.

Boenzi, Sara, Cristiano Rizzo, Vincenzo Di Ciommo, et al.. (2011). Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography–tandem mass spectrometry (LC–MS/MS). Journal of Pharmaceutical and Biomedical Analysis. 56(4). 792–798. 14 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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