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D

Daniele Ghezzi

Fondazione IRCCS Istituto Neurologico Carlo Besta
H指数:48
被引数:7,420

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Pleiotropic effects of MORC2 derive from its epigenetic signature

MORC2的多种表型效应源于其表观遗传特征

BRAIN
IF11.7
2025-12-011
OAAI
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
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
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

双等位基因USP14变异引起综合征性神经发育障碍

GENETICS IN MEDICINE
IF6.2
2024-06-010
OAAI
Ebstein, Frederic; Latypova, Xenia; Hung, Ka Ying Sharon; Prado, Miguel A.; Lee, Byung-Hoon; Moeller, Sophie; Wendlandt, Martin; Zieba, Barbara A.; Florenceau, Laetitia; Vignard, Virginie; Poirier, Lea; Toutain, Berenice; Moroni, Isabella; Dubucs, Charlotte; Chassaing, Nicolas; Horvath, Judit; Prokisch, Holger; Kury, Sebastien; Bezieau, Stephane; Paulo, Joao A.; Finley, Daniel; Krueger, Elke; Ghezzi, Daniele; Isidor, Bertrand
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-05-154
OA
Cavestro, Chiara; Morra, Francesca; Legati, Andrea; D'Amato, Marco; Nasca, Alessia; Iuso, Arcangela; Lubarr, Naomi; Morrison, Jennifer L.; Wheeler, Patricia G.; Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Turon-Vinas, Eulalia; Prouteau, Clement; Barth, Magalie; Hayflick, Susan J.; Ghezzi, Daniele; Tiranti, Valeria; Di Meo, Ivano
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

以m.11778G为背景的Digenic Leigh综合征> Leber遗传性视神经病变变体

BRAIN
IF11.7
2024-03-134
OAAI
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
Variants in ATP5F1B are associated with dominantly inherited dystonia
BRAIN
IF11.7
2023-03-017
OAAI
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe, I; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara; Ghezzi, Daniele
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-09-016
OAAI
Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
GENOME MEDICINE
IF11.2
2022-04-0591
OAAI
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger

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
C
Costanza Lamperti
H 指数:46论文数:165被引数:7,469
E
Eleonora Lamantea
H 指数:46论文数:154被引数:5,933
A
Alessia Nasca
H 指数:21论文数:71被引数:1,218
A
Andrea Legati
H 指数:25论文数:92被引数:1,803
H
Holger Prokisch
H 指数:100论文数:657被引数:4.8万
E
Enrico Bertini
H 指数:113论文数:1,266被引数:5.5万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
D
Daria Diodato
H 指数:30论文数:121被引数:2,857
A
Anna Ardissone
H 指数:27论文数:112被引数:2,132