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D-Index
49
Citations
8148
World Ranking
4001
National Ranking
90

Overview

Eleonora Lamantea is affiliated with the Istituto Neurologico Carlo Besta in Italy, contributing extensively to research in biochemistry, genetics, and molecular biology. Their work spans multiple subfields including molecular biology, clinical biochemistry, cellular and molecular neuroscience, genetics, and environmental sustainability. The scientist's research output focuses primarily on mitochondrial function and pathology, metabolism and genetic disorders, and genetic neurodegenerative diseases, alongside studies in ATP synthase and ATPases, genomics, and rare diseases.

Their recent papers cover a range of topics related to mitochondrial biology and genetic conditions. Notable publications include:

  • ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy (2020, Annals of Neurology)
  • Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA (2021, Journal of Molecular Diagnostics)
  • Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions (2023, Frontiers in Genetics)
  • Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases (2021, Orphanet Journal of Rare Diseases)
  • Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations (2020, Neurology Genetics)

Frequent coauthors who have collaborated with Lamantea include Daniele Ghezzi, Andrea Legati, Costanza Lamperti, Alessia Nasca, and Anna Ardissone. This network of collaboration contributes to an interdisciplinary approach that integrates clinical, biochemical, and genetic dimensions of mitochondrial and neurodegenerative disorders.

Their publications are often found in specialized and open-access venues. Frequent publication venues include Zenodo (CERN European Organization for Nuclear Research), Orphanet Journal of Rare Diseases, Human Mutation, International Journal of Molecular Sciences, and Neurological Sciences. These platforms underline a focus on disseminating research relevant to rare diseases and molecular diagnostics.

Lamantea's research emphasizes detailed examination of mitochondrial diseases and genetic mutations affecting cellular energy metabolism. The integration of next-generation sequencing techniques, including nanopore sequencing, features prominently in their recent scholarly work, facilitating improved detection and characterization of mitochondrial DNA alterations. This methodological emphasis supports ongoing investigations into the molecular underpinnings of conditions such as Leigh syndrome and mitochondrial optic neuropathies.

Overall, Eleonora Lamantea's contributions lie at the intersection of molecular biology and clinical neurology, advancing understanding of mitochondrial pathology through both experimental and diagnostic perspectives.

Best Publications

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

    R Horvath;G Hudson;G Ferrari;N Futterer

  • Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA

    Gianfrancesco Ferrari;Eleonora Lamantea;Alice Donati;Massimiliano Filosto

  • Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

    Eleonora Lamantea;Valeria Tiranti;Andreina Bordoni;Antonio Toscano

  • Clinical and molecular findings in children with complex I deficiency.

    M. Bugiani;F. Invernizzi;S. Alberio;E. Briem

  • Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

    Tobias B. Haack;Katharina Danhauser;Birgit Haberberger;Jonathan Hoser

  • Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Valeria Tiranti;Pio D'Adamo;Egill Briem;Gianfrancesco Ferrari

  • Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

    Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

  • Clinical and molecular features of mitochondrial DNA depletion syndromes.

    A. Spinazzola;F. Invernizzi;F. Carrara;E. Lamantea

  • Epileptic phenotypes associated with mitochondrial disorders

    L. Canafoglia;Silvana Franceschetti;C. Antozzi;F. Carrara

  • Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

    Luigi Palmieri;Simona Alberio;Isabella Pisano;Tiziana Lodi

  • A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

    Vittoria Petruzzella;Rosaria Vergari;Irene Puzziferri;Domenico Boffoli

  • Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

    G Uziel;I Moroni;E Lamantea;G M Fratta

  • Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

    Jennifer L. Orthmann-Murphy;Ettore Salsano;Charles K. Abrams;Alberto Bizzi

  • Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

    Franco Taroni;Elisabetta Verderio;Stefania Fiorucci;Patrizia Cavadini

  • Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

    Edoardo Malfatti;Marianna Bugiani;Federica Invernizzi;Carolina Fischinger-Moura de Souza

  • A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

    Valeria Tiranti;Paola Corona;Marilena Greco;Jan Willem Taanman

  • Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

    Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  • A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.

    Paola Corona;Carlo Antozzi;Franco Carrara;Ludovico D'Incerti

  • A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

    Eleonora Lamantea;Franco Carrara;Caterina Mariotti;Lucia Morandi

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

    Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

Frequent Co-Authors

Massimo Zeviani
Massimo Zeviani University of Padua
Daniele Ghezzi
Daniele Ghezzi University of Milan
Graziella Uziel
Graziella Uziel Istituto Neurologico Carlo Besta
Holger Prokisch
Holger Prokisch Technical University of Munich
Valeria Tiranti
Valeria Tiranti Istituto Neurologico Carlo Besta
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Tobias B. Haack
Tobias B. Haack University of Tübingen
Robert W. Taylor
Robert W. Taylor Newcastle University
Rosalba Carrozzo
Rosalba Carrozzo Bambino Gesù Children's Hospital
Thomas Meitinger
Thomas Meitinger Technical University of Munich

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