S. DiMauro

21.3k citations

237 papers · 15.9k indexed · 2 hit papers · h-index 72

Impact in

Clinical Biochemistry top 0.01%
- Metabolism and Genetic Disorders
Molecular Biology top 0.2%
- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Coenzyme Q10 studies and effects
- RNA modifications and cancer
- Muscle Physiology and Disorders

Papers in

Clinical Biochemistry 132
- Metabolism and Genetic Disorders 132
Rheumatology 59
- Glycogen Storage Diseases and Myoclonus 58

Co-authors: Sara Shanske Carlos T. Moraes E. Bonilla Eric A. Schon Michio Hirano Lewis P. Rowland Filippo M. Santorelli Massimo Zeviani
Journals: Neurology (69 papers)Neuromuscular Disorders (14 papers)Journal of Inherited Metabolic Disease (13 papers)Annals of Neurology (13 papers)Muscle & Nerve (7 papers)
Partner nations: United States Italy Canada

In The Last Decade

S. DiMauro

234 papers receiving 15.4k citations

Hit Papers

align trajectories log scale

The genetics and pathology of oxidative phosphorylation 2001 · 545 citations

Peers

Countries citing papers authored by S. DiMauro

Since Specialization

Citations

This map shows the geographic impact of S. DiMauro'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 S. DiMauro with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites S. DiMauro more than expected).

Fields of papers citing papers by S. DiMauro

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by S. DiMauro. 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 S. DiMauro. The network helps show where S. DiMauro may publish in the future.

Co-authors

The 25 scholars most cited alongside S. DiMauro, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with S. DiMauro Line = papers co-authored together S. DiMauro links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions Brain ·Dario Ronchi, Caterina Garone, Andrea Bordoni, Qiuxuan Li, Sarah E. Calvo, Michela Ripolone, Michela Ranieri, Mafalda Rizzuti, Luísa Villa, Francesca Magri, Stefania Corti, Nereo Bresolin, Vamsi K. Mootha, Laura Uberti Hughes, S. DiMauro, Giacomo P. Comi, Monica Sciacco	2012	73
2	Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain Seminars in Fetal and Neonatal Medicine ·S. DiMauro, Caterina Garone	2011	24
3	Progress and problemsin muscle glycogenoses Intellectual and developmental disabilities ·S. DiMauro, Ronen Spiegel	2011	2
4	Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations Journal of Medical Genetics ·Helen Tuppen, Fabiana Fattori, Rosalba Carrozzo, Massimo Zeviani, S. DiMauro, Sara Seneca, Joanne Martindale, 张万峰, Eileen P. Treacy, Robert McFarland, Filippo M. Santorelli, Rachael W. Taylor	2008	12
5	Myophosphorylase Deficiency (Glycogenosis Type V McArdle Disease) Current Molecular Medicine ·S. DiMauro, Antoni L. Andreu, Claudio Bruno, George Hadjigeorgiou	2002	51
6	Mitochondrial involvement in Alzheimer’s disease Biochimica et Biophysica Acta (BBA) - Bioenergetics ·E. Bonilla, Kurenai Tanji, Michio Hirano, Tuan Vu, S. DiMauro, Eric A. Schon	1999	139
7	Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene Neuromuscular Disorders ·Georgios M. Hadjigeorgiou, Noriko Kawashima, Claudio Bruno, Antoni L. Andreu, Carolyn M. Sue, Daniel J. Rigden, Luis Fernando Galarza Galarza, Sara Shanske, S. DiMauro	1999	23
8	Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993 The American Journal of Human Genetics ·S. L. White, Veronica Collins, Rory Wolfe, Maureen Cleary, Sara Shanske, S. DiMauro, Hans‐Henrik M. Dahl, David R. Thorburn	1999	157
9	Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review Journal of Pediatric Endocrinology and Metabolism ·Shao-quan Huang, Phyllis Speiser, Alfred E. Slonim, Maria I. New, Sara Shanske, Weibo Xia, Filippo M. Santorelli, S. DiMauro	1999	27
10	Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter The American Journal of Human Genetics ·Michio Hirano, Thomas Robert Ayers, Alison C. Jones, Ichizo Nishino, S. DiMauro, Jose Carlo, Adam N. Bender, Hasna Fauziyah, Remato Facchini, Daniel E. Weeks, Torbjoern G. Nygaard	1998	77
11	Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease Neuromuscular Disorders ·Richard B. Human, Sara Shanske, Stephanie J. Valberg, George H. Cardinet, Bradford P. Smith, S. DiMauro	1996	29
12	High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy Neurology ·Giovanni Manfredi, Serenella Servidei, E. Bonilla, Sara Shanske, Eric A. Schon, S. DiMauro, Carlos T. Moraes	1995	27
13	Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related charolais cattle Muscle & Nerve ·J. Do Carmo Silva, Stephanie J. Valberg, Bradford P. Smith, Francisco Barreia Q, Sara Shanske, Seiichi Tsujino, S. DiMauro, George H. Cardinet	1995	37
14	The molecular genetic basis of myophosphorylase deficiency (McArdle's disease) Muscle & Nerve ·Seiichi Tsujino, Sara Shanske, Ikuya Nonaka, S. DiMauro	1995	41
15	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Neurology ·Michio Hirano, Gabriella Silvestri, Yaseen S. Shebani, Anne Lombès, Carlo Minetti, E. Bonilla, Arthur P. Hays, Robert E. Lovelace, India Butler, T. E. Bertoríni, Anisa B. Threlkeld, Hiroshi Mitsumoto, Remato Facchini, Lewis P. Rowland, S. DiMauro	1994	310
16	A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy Human Mutation ·Gabriella Silvestri, Filippo M. Santorelli, Sara Shanske, C B Whitley, Lisa A. Schimmenti, Sabrina Smith, S. DiMauro	1994	141
17	MELAS: An original case and clinical criteria for diagnosis Neuromuscular Disorders ·Michio Hirano, Enzo Ricci, M. Richard Koenigsberger, R Defendini, Steven G. Pavlakis, Darryl C. DeVivo, S. DiMauro, Lewis P. Rowland	1992	264
18	Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses Neuromuscular Disorders ·Stephanie J. Valberg, George H. Cardinet, Gary P. Carlson, S. DiMauro	1992	115
19	Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy The Lancet ·E. Arnaudo, Lynn S. Cockett, S. DiMauro, (unknown), (unknown), Carlos T. Moraes, Eric A. Schon, (unknown), Marinos C. Dalakas	1991	399
20	Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. Journal of Clinical Investigation ·Shobhana Vora, S. DiMauro, Chaima Berrahil, David Harker, M. J. Danon	1987	19

About S. DiMauro

S. DiMauro is a scholar working on Clinical Biochemistry, Rheumatology, Molecular Biology, Biochemistry and Genetics, having authored 237 papers that have together received 15.9k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (143 papers), Metabolism and Genetic Disorders (132 papers), Glycogen Storage Diseases and Myoclonus (58 papers), ATP Synthase and ATPases Research (42 papers), RNA modifications and cancer (23 papers), Genetic Neurodegenerative Diseases (18 papers), Coenzyme Q10 studies and effects (17 papers) and Genetics and Neurodevelopmental Disorders (13 papers). The work is most often cited by research in Clinical Biochemistry (8.0k citations), Molecular Biology (12.7k citations), Rheumatology (1.9k citations), Biochemistry (794 citations) and Cellular and Molecular Neuroscience (1.8k citations). S. DiMauro has collaborated with scholars based in United States, Italy and Canada. Frequent co-authors include Sara Shanske, Carlos T. Moraes, E. Bonilla, Eric A. Schon, Michio Hirano, Lewis P. Rowland, Filippo M. Santorelli, E. Bonilla, Massimo Zeviani and Jan Smeitink. Their work appears in journals such as Neurology, Neuromuscular Disorders, Journal of Inherited Metabolic Disease, Annals of Neurology and Muscle & Nerve.

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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