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E

Eleonora Lamantea

Fondazione IRCCS Istituto Neurologico Carlo Besta
H指数:46
被引数:5,933

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Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature

氨基酸补充在受累于与线粒体氨基酰tRNA合成酶致病性变异相关脱髓鞘脑白质病变患者中的应用：成人初步临床试验及文献综述

Molecular Genetics and Metabolism
IF3.5
2025-10-060
PRE
Alessia Catania; Silvia Marchet; Krisztina Einvag; Eleonora Lamantea; Ettore Salsano; Daniele Ghezzi; Costanza Lamperti
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder
GENETICS IN MEDICINE
IF6.2
2023-11-015
OAAI
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Muehlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegra, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Araoz, Hilda Veronica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; Mcdunnah, Paige; Horvath, Rita; Cogne, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Stergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-10-0923
OAAI
Ardissone, Anna; Bruno, Claudio; Diodato, Daria; Donati, Alice; Ghezzi, Daniele; Lamantea, Eleonora; Lamperti, Costanza; Mancuso, Michelangelo; Martinelli, Diego; Primiano, Guido; Procopio, Elena; Rubegni, Anna; Santorelli, Filippo; Schiaffino, Maria Cristina; Servidei, Serenella; Tubili, Flavia; Bertini, Enrico; Moroni, Isabella
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

新的NDUFA12变异与孤立的复杂I缺陷和可变的临床表现有关

HUMAN MUTATION
IF3.7
2021-03-2515
OAAI
Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S.; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rotig, Agnes; Dionisi-Vici, Carlo; Bertini, Enrico; Ghezzi, Daniele; Carrozzo, Rosalba; Diodato, Daria
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
ANNALS OF NEUROLOGY
IF7.7
2020-04-2135
OAAI
Caporali, Leonardo; Magri, Stefania; Legati, Andrea; Del Dotto, Valentina; Tagliavini, Francesca; Balistreri, Francesca; Nasca, Alessia; La Morgia, Chiara; Carbonelli, Michele; Valentino, Maria L.; Lamantea, Eleonora; Baratta, Silvia; Schoels, Ludger; Schuele, Rebecca; Barboni, Piero; Cascavilla, Maria L.; Maresca, Alessandra; Capristo, Mariantonietta; Ardissone, Anna; Pareyson, Davide; Cammarata, Gabriella; Melzi, Lisa; Zeviani, Massimo; Peverelli, Lorenzo; Lamperti, Costanza; Marzoli, Stefania B.; Fang, Mingyan; Synofzik, Matthis; Ghezzi, Daniele; Carelli, Valerio; Taroni, Franco
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
NEUROLOGY-GENETICS
IF3.7
2020-02-0123
OAAI
Bugiardini, Enrico; Bottani, Emanuela; Marchet, Silvia; Poole, Olivia V.; Beninca, Cristiane; Horga, Alejandro; Woodward, Cathy; Lam, Amanda; Hargreaves, Iain; Chalasani, Annapurna; Valerio, Alessandra; Lamantea, Eleonora; Venner, Kerrie; Holton, Janice L.; Zeviani, Massimo; Houlden, Henry; Quinlivan, Rosaline; Lamperti, Costanza; Hanna, Michael G.; Pitceathly, Robert D. S.

研究方向

暂未获取到该数据
M
Massimo Zeviani
H 指数:116论文数:757被引数:5.1万
D
Daniele Ghezzi
H 指数:48论文数:194被引数:7,420
A
Andrea Legati
H 指数:25论文数:92被引数:1,803
C
Costanza Lamperti
H 指数:46论文数:165被引数:7,469
I
Isabella Moroni
H 指数:52论文数:300被引数:8,650
F
Federica Invernizzi
H 指数:35论文数:121被引数:4,522
A
Alessia Nasca
H 指数:21论文数:71被引数:1,218
A
Anna Ardissone
H 指数:27论文数:112被引数:2,132
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万
G
Graziella Uziel
H 指数:55论文数:221被引数:9,220