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Fingerprint Dive into the research topics where Eleonora Lamantea is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 37 Similar Profiles
Mutation Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Genes Medicine & Life Sciences
Leigh Disease Medicine & Life Sciences
Lactic Acidosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1992 2019

  • 3945 Citations
  • 36 h-Index
  • 78 Article
  • 3 Letter

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

Saoura, M., Powell, C. A., Kopajtich, R., Alahmad, A., Al-Balool, H. H., Albash, B., Alfadhel, M., Alston, C. L., Bertini, E., Bonnen, P., Bratkovic, D., Carrozzo, R., Donati, M. A., Nottia, M. D., Ghezzi, D., Goldstein, A., Haan, E., Horvath, R., Hughes, J., Invernizzi, F. & 13 others, Lamantea, E., Lucas, B., Pinnock, K-G., Pujantell, M., Rahman, S., Rebelo-Guiomar, P., Santra, S., Verrigni, D., McFarland, R., Prokisch, H., Taylor, R. W., Levinger, L. & Minczuk, M., May 2 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Transfer RNA
RNA Precursors
Mitochondrial Diseases

New missense variants of NDUFA11 associated with late-onset myopathy

Peverelli, L., Legati, A., Lamantea, E., Nasca, A., Lerario, A., Galimberti, V., Ghezzi, D. & Lamperti, C., Jan 1 2019, In : Muscle and Nerve. 60, 2, p. E11-E14

Research output: Contribution to journalArticle

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

Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., Jul 19 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 120

Research output: Contribution to journalArticle

Riboflavin Deficiency
Acyl-CoA Dehydrogenase
Molecular Biology

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

Catania, A., Ardissone, A., Verrigni, D., Legati, A., Reyes, A., Lamantea, E., Diodato, D., Tonduti, D., Imperatore, V., Pinto, A. M., Moroni, I., Bertini, E., Robinson, A., Carrozzo, R., Zeviani, M. & Ghezzi, D., May 2018, In : Journal of Human Genetics. 63, 5, p. 563-568 6 p.

Research output: Contribution to journalArticle

Leigh Disease
Messenger RNA
RNA Splice Sites
7 Citations (Scopus)

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

Ardissone, A., Tonduti, D., Legati, A., Lamantea, E., Barone, R., Dorboz, I., Boespflug-Tanguy, O., Nebbia, G., Maggioni, M., Garavaglia, B., Moroni, I., Farina, L., Pichiecchio, A., Orcesi, S., Chiapparini, L. & Ghezzi, D., Apr 4 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 45.

Research output: Contribution to journalArticle

Brain Stem
Spinal Cord
Mitochondrial Diseases