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Italy

Activities

Employment (1)

Fondazione IRCCS Istituto Neurologico Carlo Besta: Milano, Lombardia, IT

Biologist (Medical Genetics and Neurogenetics Unit)
Employment
Source: Self-asserted source
Eleonora Lamantea

Education and qualifications (2)

Università degli Studi di Milano: Milano, Lombardia, IT

Scienze Biologiche
Education
Source: Self-asserted source
Eleonora Lamantea

Università degli Studi di Milano: Milan, IT

2019-10-21 to 2023-11-06 | Diploma di Specializzazione in Genetica Medica (Scuola di Specializzazione in Genetica Medica)
Education
Source: Self-asserted source
Eleonora Lamantea

Works (50 of 100)

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Page 1 of 2

Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA

BioTech
2025-02-12 | Journal article
Contributors: Marco Barresi; Giulia Dal Santo; Rossella Izzo; Andrea Zauli; Eleonora Lamantea; Leonardo Caporali; Daniele Ghezzi; Andrea Legati
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De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

International Journal of Molecular Sciences
2025-01-20 | Journal article
Contributors: Martina Magistrati; Luisa Zupin; Eleonora Lamantea; Enrico Baruffini; Daniele Ghezzi; Andrea Legati; Fulvio Celsi; Flora Maria Murru; Valeria Capaci; Maurizio Pinamonti et al.
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Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

International Journal of Molecular Sciences
2023-08-08 | Journal article
Contributors: Mirko Baglivo; Alessia Nasca; Eleonora Lamantea; Stefano Vinci; Manuela Spagnolo; Silvia Marchet; Holger Prokisch; Alessia Catania; Costanza Lamperti; Daniele Ghezzi
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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

Genes
2023-07-02 | Journal article
Contributors: Federica Invernizzi; Rossella Izzo; Isabel Colangelo; Andrea Legati; Nadia Zanetti; Barbara Garavaglia; Eleonora Lamantea; Lorenzo Peverelli; Anna Ardissone; Isabella Moroni et al.
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Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain
2021-10-22 | Journal article
Contributors: Federica Invernizzi; Andrea Legati; Alessia Nasca; Eleonora Lamantea; Barbara Garavaglia; Mirjana Gusic; Robert Kopajtich; Holger Prokisch; Massimo Zeviani; Costanza Lamperti et al.
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Crossref

Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA

The Journal of Molecular Diagnostics
2021-06 | Journal article
Contributors: Andrea Legati; Nadia Zanetti; Alessia Nasca; Camille Peron; Costanza Lamperti; Eleonora Lamantea; Daniele Ghezzi
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Crossref

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

Applied Sciences
2021-03-05 | Journal article
Contributors: Claudia Ciaccio; Chiara Pantaleoni; Franco Taroni; Daniela Di Bella; Stefania Magri; Eleonora Lamantea; Daniele Ghezzi; Enza Maria Valente; Vincenzo Nigro; Stefano D’Arrigo
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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Annals of Neurology
2020 | Journal article
EID:

2-s2.0-85083678159

Part of ISBN:

15318249 03645134

Contributors: Caporali, L.; Magri, S.; Legati, A.; Del Dotto, V.; Tagliavini, F.; Balistreri, F.; Nasca, A.; La Morgia, C.; Carbonelli, M.; Valentino, M.L. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

Neurology: Genetics
2020 | Journal article
EID:

2-s2.0-85081922177

Part of ISBN:

23767839

Contributors: Bugiardini, E.; Bottani, E.; Marchet, S.; Poole, O.V.; Beninca, C.; Horga, A.; Woodward, C.; Lam, A.; Hargreaves, I.; Chalasani, A. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Human Mutation
2020 | Journal article
EID:

2-s2.0-85088293009

Part of ISBN:

10981004 10597794

Contributors: Marchet, S.; Legati, A.; Nasca, A.; Di Meo, I.; Spagnolo, M.; Zanetti, N.; Lamantea, E.; Catania, A.; Lamperti, C.; Ghezzi, D.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Thickness mapping of individual retinal layers and sectors by Spectralis Spectral Domain-optical Coherence Tomography in Autosomal Dominant Optic Atrophy

Acta Ophthalmologica
2020 | Journal article
EID:

2-s2.0-85074034533

Part of ISBN:

17553768 1755375X

Contributors: Cesareo, M.; Ciuffoletti, E.; Martucci, A.; Sebastiani, J.; Sorge, R.P.; Lamantea, E.; Garavaglia, B.; Ricci, F.; Cusumano, A.; Nucci, C. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

EMBO molecular medicine
2020-09-24 | Journal article
Source: Self-asserted source
Eleonora Lamantea

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Mitochondrion
2019 | Journal article
EID:

2-s2.0-85065039547

Part of ISBN:

18728278 15677249

Contributors: Marchet, S.; Invernizzi, F.; Blasevich, F.; Bruno, V.; Dusi, S.; Venco, P.; Fiorillo, C.; Baranello, G.; Pallotti, F.; Lamantea, E. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier
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Epileptic phenotypes in children with early-onset mitochondrial diseases

Acta Neurologica Scandinavica
2019 | Journal article
EID:

2-s2.0-85067352080

Part of ISBN:

16000404 00016314

Contributors: Matricardi, S.; Canafoglia, L.; Ardissone, A.; Moroni, I.; Ragona, F.; Ghezzi, D.; Lamantea, E.; Nardocci, N.; Franceschetti, S.; Granata, T.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′-end processing

Human Mutation
2019 | Journal article
EID:

2-s2.0-85072718016

Part of ISBN:

10981004 10597794

Contributors: Saoura, M.; Powell, C.A.; Kopajtich, R.; Alahmad, A.; AL-Balool, H.H.; Albash, B.; Alfadhel, M.; Alston, C.L.; Bertini, E.; Bonnen, P.E. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

New missense variants of NDUFA11 associated with late-onset myopathy

Muscle and Nerve
2019 | Journal article
EID:

2-s2.0-85066819415

Part of ISBN:

10974598 0148639X

Contributors: Peverelli, L.; Legati, A.; Lamantea, E.; Nasca, A.; Lerario, A.; Galimberti, V.; Ghezzi, D.; Lamperti, C.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

iScience
2019 | Journal article
EID:

2-s2.0-85072226999

Part of ISBN:

25890042

Contributors: Moutaoufik, M.T.; Malty, R.; Amin, S.; Zhang, Q.; Phanse, S.; Gagarinova, A.; Zilocchi, M.; Hoell, L.; Minic, Z.; Gagarinova, M. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?

Orphanet Journal of Rare Diseases
2018 | Journal article
EID:

2-s2.0-85050318863

Contributors: Repp, B.M.; Mastantuono, E.; Alston, C.L.; Schiff, M.; Haack, T.B.; Rötig, A.; Ardissone, A.; Lombès, A.; Catarino, C.B.; Diodato, D. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

Journal of Human Genetics
2018 | Journal article
EID:

2-s2.0-85045654596

Contributors: Catania, A.; Ardissone, A.; Verrigni, D.; Legati, A.; Reyes, A.; Lamantea, E.; DIodato, D.; Tonduti, D.; Imperatore, V.; Pinto, A.M. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Orphanet Journal of Rare Diseases
2018 | Journal article
EID:

2-s2.0-85044746120

Contributors: Ardissone, A.; Tonduti, D.; Legati, A.; Lamantea, E.; Barone, R.; Dorboz, I.; Boespflug-Tanguy, O.; Nebbia, G.; Maggioni, M.; Garavaglia, B. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations

Metabolic Brain Disease
2018 | Journal article
EID:

2-s2.0-85040762201

Contributors: Toldo, I.; Nosadini, M.; Boscardin, C.; Talenti, G.; Manara, R.; Lamantea, E.; Legati, A.; Ghezzi, D.; Perilongo, G.; Sartori, S.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults

JAMA Neurology
2018 | Journal article
EID:

2-s2.0-85040227657

Contributors: Charif, M.; Nasca, A.; Thompson, K.; Gerber, S.; Makowski, C.; Mazaheri, N.; Bris, C.; Goudenège, D.; Legati, A.; Maroofian, R. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Human Molecular Genetics
2018 | Journal article
EID:

2-s2.0-85042595293

Contributors: Punzi, G.; Porcelli, V.; Ruggiu, M.; Hossain, M.F.; Menga, A.; Scarcia, P.; Castegna, A.; Gorgoglione, R.; Pierri, C.L.; Laera, L. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

A myopathy, lactic acidosis, sideroblastic anemia (MLASA) case due to a novel PUS1 mutation,PUS1 geninde yeni mutasyon saptanan miyopati, laktik asidoz, sideroblastik anemi (MLASA) olgusu

Turkish Journal of Hematology
2017 | Journal article
EID:

2-s2.0-85035030923

Contributors: Kasapkara, Ç.S.; Tümer, L.; Zanetti, N.; Ezgü, F.; Lamantea, E.; Zeviani, M.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

PLoS ONE
2017 | Journal article
EID:

2-s2.0-85016765847

Contributors: Cesareo, M.; Ciuffoletti, E.; Martucci, A.; Sebastiani, J.; Sorge, R.P.; Lamantea, E.; Garavaglia, B.; Ricci, F.; Cusumano, A.; Nucci, C. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

Acta Neurologica Belgica
2017 | Journal article
EID:

2-s2.0-85019575920

Contributors: Galassi, G.; Maggi, L.; Lamantea, E.; Ariatti, A.; Malagoli, M.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Orphanet Journal of Rare Diseases
2017 | Journal article
EID:

2-s2.0-85018923242

Contributors: Nasca, A.; Rizza, T.; Doimo, M.; Legati, A.; Ciolfi, A.; Diodato, D.; Calderan, C.; Carrara, G.; Lamantea, E.; Aiello, C. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

Journal of Neurology
2017 | Journal article
EID:

2-s2.0-84992358071

Contributors: Torraco, A.; Ardissone, A.; Invernizzi, F.; Rizza, T.; Fiermonte, G.; Niceta, M.; Zanetti, N.; Martinelli, D.; Vozza, A.; Verrigni, D. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Molecular Genetics and Metabolism Reports
2017 | Journal article
EID:

2-s2.0-85005979478

Contributors: Zanolini, A.; Potic, A.; Carrara, F.; Lamantea, E.; Diodato, D.; Blasevich, F.; Marchet, S.; Mora, M.; Pallotti, F.; Morandi, L. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Reply to the letter by Finsterer et al. concerning the paper: “Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome” by Galassi G. et al.

Acta Neurologica Belgica
2017 | Journal article
EID:

2-s2.0-85028553456

Contributors: Galassi, G.; Maggi, L.; Lamantea, E.; Ariatti, A.; Malagoli, M.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Erratum: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Brain (2016) 139 (782-794) DOI: 10.1093/brain/awv392)

Brain
2016 | Journal article
EID:

2-s2.0-85057276594

Contributors: Dallabona, C.; Abbink, T.E.M.; Carrozzo, R.; Torraco, A.; Legati, A.; Van Berkel, C.G.M.; Niceta, M.; Langella, T.; Verrigni, D.; Rizza, T. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Brain
2016 | Journal article
EID:

2-s2.0-84964649248

Contributors: Dallabona, C.; Abbink, T.E.M.; Carrozzo, R.; Torraco, A.; Legati, A.; Van Berkel, C.G.M.; Niceta, M.; Langella, T.; Verrigni, D.; Rizza, T. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Biochimica et Biophysica Acta - Bioenergetics
2016 | Journal article
EID:

2-s2.0-84962199060

Contributors: Legati, A.; Reyes, A.; Nasca, A.; Invernizzi, F.; Lamantea, E.; Tiranti, V.; Garavaglia, B.; Lamperti, C.; Ardissone, A.; Moroni, I. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

A novel homozygous YARS2 mutation in two Italian siblings and a review of literature

JIMD Rep
2015 | Journal article
EID:

2-s2.0-84964474908

Source: Self-asserted source
Eleonora Lamantea
grade
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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Neurology
2015 | Journal article
EID:

2-s2.0-84929880899

Contributors: Ardissone, A.; Piscosquito, G.; Legati, A.; Langella, T.; Lamantea, E.; Garavaglia, B.; Salsano, E.; Farina, L.; Moroni, I.; Pareyson, D. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations

Journal of Neurology
2015 | Journal article
EID:

2-s2.0-84929844846

Contributors: Rocca, M.A.; Bianchi-Marzoli, S.; Messina, R.; Cascavilla, M.L.; Zeviani, M.; Lamperti, C.; Milesi, J.; Carta, A.; Cammarata, G.; Leocani, L. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) in a patient harboring a novel EARS2 mutation

JIMD Rep
2015 | Journal article
EID:

2-s2.0-84962829928

Source: Self-asserted source
Eleonora Lamantea
grade
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Mitochondrial complex III deficiency caused by TTC19 defects: Report of a Novel Mutation and Review of Literature

JIMD Rep
2015 | Journal article
EID:

2-s2.0-84964675288

Source: Self-asserted source
Eleonora Lamantea
grade
Preferred source (of 3)‎

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

American Journal of Human Genetics
2015 | Journal article
EID:

2-s2.0-84937516676

Contributors: Reyes, A.; Melchionda, L.; Nasca, A.; Carrara, F.; Lamantea, E.; Zanolini, A.; Lamperti, C.; Fang, M.; Zhang, J.; Ronchi, D. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

A new mutation in GJC2 associated with subclinical leukodystrophy

Journal of Neurology
2014 | Journal article
EID:

2-s2.0-84914688641

Contributors: Abrams, C.K.; Scherer, S.S.; Flores-Obando, R.; Freidin, M.M.; Wong, S.; Lamantea, E.; Farina, L.; Scaioli, V.; Pareyson, D.; Salsano, E.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU<inf>1</inf> mutations

Frontiers in Genetics
2014 | Journal article
EID:

2-s2.0-84917736963

Contributors: Invernizzi, F.; Ardissone, A.; Lamantea, E.; Garavaglia, B.; Zeviani, M.; Farina, L.; Ghezzi, D.; Moroni, I.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy

JIMD Rep
2014 | Journal article
EID:

2-s2.0-84939967285

Source: Self-asserted source
Eleonora Lamantea
grade
Preferred source (of 4)‎

Mitochondrial diseases in childhood

Current Molecular Medicine
2014 | Journal article
EID:

2-s2.0-84911483215

Contributors: Ardissone, A.; Lamantea, E.; Invernizzi, F.; Zeviani, M.; Genitrini, S.; Moroni, I.; Uziel, G.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

American Journal of Human Genetics
2014 | Journal article
EID:

2-s2.0-84908254396

Contributors: Melchionda, L.; Haack, T.B.; Hardy, S.; Abbink, T.E.M.; Fernandez-Vizarra, E.; Lamantea, E.; Marchet, S.; Morandi, L.; Moggio, M.; Carrozzo, R. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

American Journal of Human Genetics
2014 | Journal article
EID:

2-s2.0-84919678076

Contributors: Kopajtich, R.; Nicholls, T.J.; Rorbach, J.; Metodiev, M.D.; Freisinger, P.; Mandel, H.; Vanlander, A.; Ghezzi, D.; Carrozzo, R.; Taylor, R.W. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Paraneoplastic cerebellar ataxia associated with anti-hu antibodies and benign ganglioneuroma

Functional Neurology
2014 | Journal article
EID:

2-s2.0-84924858411

Contributors: Fancellu, R.; Corsini, E.; Bernardi, G.; Buzzo, P.; Ferrari, M.L.; Lamantea, E.; Garaventa, A.; Truini, M.; Salvarani, S.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Human Mutation
2014 | Journal article
EID:

2-s2.0-84904406653

Contributors: Diodato, D.; Melchionda, L.; Haack, T.B.; Dallabona, C.; Baruffini, E.; Donnini, C.; Granata, T.; Ragona, F.; Balestri, P.; Margollicci, M. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Adult-onset leukodystrophies from respiratory chain disorders: Do they exist?

Journal of Neurology
2013 | Journal article
EID:

2-s2.0-84878884481

Contributors: Salsano, E.; Farina, L.; Lamperti, C.; Piscosquito, G.; Salerno, F.; Morandi, L.; Carrara, F.; Lamantea, E.; Zeviani, M.; Uziel, G. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

Expanded spectrum of Pelizaeus-Merzbacher-like disease: Literature revision and description of a novel GJC2 mutation in an unusually severe form

European Journal of Human Genetics
2013 | Journal article
EID:

2-s2.0-84871204629

Contributors: Biancheri, R.; Rosano, C.; Denegri, L.; Lamantea, E.; Pinto, F.; Lanza, F.; Severino, M.; Filocamo, M.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Human Mutation
2013 | Journal article
EID:

2-s2.0-84885434357

Contributors: Baruffini, E.; Dallabona, C.; Invernizzi, F.; Yarham, J.W.; Melchionda, L.; Blakely, E.L.; Lamantea, E.; Donnini, C.; Santra, S.; Vijayaraghavan, S. et al.
Source: Self-asserted source
Eleonora Lamantea via Scopus - Elsevier
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