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S. Dimauro · SciRah

Researcher profile · Semantic Scholar

S. Dimauro

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S. Dimauro — researcher profile on SciRah

h-index: 101
Works: 591
Citations: 40K

Most-cited papers

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, M. Koenig, F. Scaglia +15 more
2014Genetics in Medicine581 citations Open access
Semantic Scholar
The clinical maze of mitochondrial neurology
S. Dimauro, E. Schon, V. Carelli, M. Hirano
2013Nature Reviews Neurology354 citations Open access
Semantic Scholar
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease
C. Kornblum, T. J. Nicholls, T. Haack, Susanne Schöler +21 more
2013Nature Genetics221 citations Open access
Semantic Scholar
Mitochondrial abnormalities in temporal lobe of autistic brain
Guomei Tang, Purificación Gutierrez Ríos, Sheng-Han Kuo, H. Akman +7 more
2013Neurobiology of Disease199 citations Open access
Semantic Scholar
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation
Tatyana N. Tarasenko, S. Pacheco, M. Koenig, J. Gómez-Rodríguez +10 more
2017Cell Metabolism170 citations Open access
Semantic Scholar
Brain imaging evidence that mitochondrial dysfunction is a neurobiological subtype of Autism Spectrum Disorder
Suzanne Goh, Zheng-Chao Dong, Yudong Zhang, S. Dimauro +1 more
2014JAMA psychiatry153 citations Open access
Semantic Scholar
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
J. Nilsson, B. Schoser, P. Laforêt, O. Kalev +10 more
2013Annals of Neurology133 citations Open access
Semantic Scholar
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
M. Ripolone, D. Ronchi, R. Violano, Dionis Vallejo +18 more
2015JAMA Neurology131 citations Open access
Semantic Scholar
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
I. Manoli, J. Sysol, Lingli Li, P. Houillier +19 more
2013Proceedings of the National Academy of Sciences of the United States of America115 citations Open access
Semantic Scholar
Retrospective natural history of thymidine kinase 2 deficiency
C. Garone, Robert W. Taylor, A. Nascimento, J. Poulton +39 more
2018Journal of Medical Genetics106 citations Open access
Semantic Scholar
A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency
E. Malfatti, J. Nilsson, C. Hedberg-Oldfors, A. Hernández-Laín +10 more
2014Annals of Neurology93 citations Open access
Semantic Scholar
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
R. Feichtinger, M. Oláhová, Yoshihito Kishita, C. Garone +35 more
2017American Journal of Human Genetics68 citations Open access
Semantic Scholar
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
I. Manoli, J. Sysol, M. Epping, Li-Na Li +27 more
2018JCI Insight66 citations Open access
Semantic Scholar
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
G. Hildick-Smith, Jeffrey D. Cooney, C. Garone, L. Kremer +23 more
2013American Journal of Human Genetics66 citations Open access
Semantic Scholar
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
C. Garone, Aaron R. D'Souza, C. Dallabona, T. Lodi +12 more
2017Human Molecular Genetics63 citations Open access
Semantic Scholar
TMEM14C is required for erythroid mitochondrial heme metabolism.
Yvette Y. Yien, R. F. Robledo, Iman J. Schultz, Naoko Takahashi‐Makise +31 more
2014Journal of Clinical Investigation63 citations Open access
Semantic Scholar
Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy
Karen M. Vernau, J. Runstadler, Emily A. Brown, J. Cameron +12 more
2013PLoS ONE60 citations Open access
Semantic Scholar
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
C. Garone, M. Donati, M. Sacchini, B. García-Díaz +4 more
2013JAMA Neurology50 citations Open access
Semantic Scholar
Branching Enzyme Deficiency
C. Paradas, H. Akman, C. Ionete, Heather Lau +5 more
2014JAMA Neurology45 citations Open access
Semantic Scholar
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
H. Akman, O. Kakhlon, Jorida Coku, L. Peverelli +14 more
2015JAMA Neurology44 citations
Semantic Scholar
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
D. Hathazi, H. Griffin, M. Jennings, M. Giunta +34 more
2020EMBO Journal43 citations Open access
Semantic Scholar
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3
E. Barca, O. Musumeci, F. Montagnese, S. Marino +6 more
2016Clinical Genetics42 citations Open access
Semantic Scholar
Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency
Roa Sadat, E. Barca, Ruchi Masand, T. Donti +5 more
2016Molecular Genetics and Metabolism42 citations Open access
Semantic Scholar
Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers
N. Weiduschat, P. Kaufmann, X. Mao, K. Engelstad +4 more
2014Neurology42 citations Open access
Semantic Scholar
New insights in the field of muscle glycogenoses
A. Oldfors, S. Dimauro
2013Current Opinion in Neurology42 citations
Semantic Scholar
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
B. García-Díaz, M. Barros, Simone Sanna-Cherchi, V. Emmanuele +10 more
2012American Journal of Human Genetics42 citations Open access
Semantic Scholar
Mitochondrial diseases in North America
E. Barca, Yuelin Long, V. Cooley, R. Schoenaker +31 more
2020Neurology: Genetics36 citations Open access
Semantic Scholar
TK2 mutation presenting as indolent myopathy
C. Paradas, Purificación Gutiérrez Ríos, E. Rivas, P. Carbonell +2 more
2013Neurology35 citations Open access
Semantic Scholar
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase
O. Kakhlon, H. Glickstein, N. Feinstein, Yan Liu +5 more
2013Journal of Neurochemistry33 citations
Semantic Scholar
Late-onset polyucosan body myopathy in five patients with a homozygous mutation in GYG1
H. Akman, Y. Aykit, O. Amuk, E. Malfatti +7 more
201531 citations
Semantic Scholar
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
H. Akman, V. Emmanuele, Y. Kurt, B. Kurt +3 more
2015Human Molecular Genetics30 citations Open access
Semantic Scholar
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies
D. Fernández-Ayala, I. Guerra, Sandra Jiménez-Gancedo, María V Cascajo +8 more
2013BMJ Open30 citations Open access
Semantic Scholar
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
P. V. S. de Souza, Bruno Mattos Lombardi Badia, I. Farias, Wladimir Bocca Vieira de Rezende Pinto +3 more
2020Journal of Inherited Metabolic Disease29 citations
Semantic Scholar
Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an Infant with Fulminant Hepatic Failure and Mitochondrial DNA Depletion
Hemant Varma, P. Faust, A. Iglesias, S. Lagana +8 more
2016European Journal of Medical Genetics29 citations Open access
Semantic Scholar
A myopathy with unusual features caused by PNPLA2 gene mutations
E. Pennisi, S. Missaglia, S. Dimauro, Cinzia Bernardi +2 more
2015Muscle and Nerve26 citations
Semantic Scholar
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
V. Emmanuele, J. Ganesh, Georgirene Vladutiu, R. Haas +12 more
2022Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
A Brief History of Mitochondrial Pathologies
S. Dimauro
2019International Journal of Molecular Sciences23 citations Open access
Semantic Scholar
A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy
Daniel B Ash, D. Papadimitriou, A. Hays, S. Dimauro +1 more
2012Archives of Neurology22 citations Open access
Semantic Scholar
Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature
R. J. Levy, Purificación Gutierrez Ríos, H. Akman, M. Sciacco +2 more
2013Journal of Child Neurology21 citations Open access
Semantic Scholar
Mitochondrial encephalomyopathies—Fifty years on
S. Dimauro
2013Neurology21 citations Open access
Semantic Scholar
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
K. Engelstad, Miriam Sklerov, Joshua Kriger, Alexandra R. Sanford +7 more
2016Human Reproduction20 citations Open access
Semantic Scholar
A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy, Dropped Head Syndrome, and Peripheral Nerve Involvement
Daniela Tavian, S. Missaglia, S. Dimauro, C. Bruno +4 more
201318 citations
Semantic Scholar
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck
F. Pallotti, G. Binelli, R. Fabbri, M. L. Valentino +6 more
2014PLoS ONE16 citations Open access
Semantic Scholar
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency
J. Vissing, H. Akman, J. Aasly, Stephen G. Kahler +3 more
2018Neurology15 citations
Semantic Scholar
Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism
Tatiana N Tarasenko, M. Jestin, S. Matsumoto, K. Saito +10 more
2019Journal of molecular medicine14 citations Open access
Semantic Scholar
Human CoQ 10 deficiencies
L. Lopez, A. Naini, S. Dimauro, M. Hirano
201312 citations
Semantic Scholar
The North American mitochondrial disease registry
X. Rosales, John L. P. Thompson, R. Haas, J. V. Van Hove +6 more
2020Journal of Translational Genetics and Genomics9 citations Open access
Semantic Scholar
Adult Polyglucosan Body Disease with GBE1 Haploinsufficiency and Concomitant Frontotemporal Lobar Degeneration
E. Bit-Ivan, Kyung-Hwa Lee, D. Gitelman, S. Weintraub +9 more
2014Neuropathology and Applied Neurobiology9 citations Open access
Semantic Scholar
Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency
Tuhin Virmani, M. Rotstein, R. Spiegel, H. Akman +2 more
2014Movement Disorders Clinical Practice9 citations Open access
Semantic Scholar
MITOCHONDRIAL MYOPATHY WITH DYSTROPHIC FEATURES DUE TO A NOVEL MUTATION IN THE MTTM GENE
L. Peverelli, Carl A. Gold, A. Naini, K. Tanji +3 more
2014Muscle and Nerve8 citations Open access
Semantic Scholar

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