A citation-based method for searching scientific literature

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali, Liana Veneziano, Tiziana Sacco, Enrica Boda, Alessandro Brussino, Florian Bonn, Barbara Castellotti, Silvia Baratta, Caterina Mariotti, Cinzia Gellera, Valentina Fracasso, Stefania Magri, Thomas Langer, Paolo Plevani, Stefano Di Donato, Marco Muzi-Falconi, Franco Taroni. Nat Genet 2010
Times Cited: 208



Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
Times Cited: 26




List of shared articles



Times cited

Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Agca, Ungsoo S Kim,[...]. Prog Retin Eye Res 2021
6

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
Majida Charif, Yvette C Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaid, Vincent Procaccio, Dominique Bonneau, Patrizia Amati-Bonneau,[...]. Mol Neurodegener 2021
5

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
Han-Lin Chiang, Jong-Ling Fuh, Yu-Shuen Tsai, Bing-Wen Soong, Yi-Chu Liao, Yi-Chung Lee. J Neurol Sci 2021
0

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria L Valentino,[...]. Ann Neurol 2020
9

Expanding the clinical and genetic heterogeneity of SPAX5.
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa,[...]. Ann Clin Transl Neurol 2020
4

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal,[...]. Neurol Genet 2020
13

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
Valentina Baderna, Joshua Schultz, Lisa S Kearns, Michael Fahey, Bryony A Thompson, Jonathan B Ruddle, Aamira Huq, Francesca Maltecca. Acta Neuropathol Commun 2020
2

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
C Mancini, E Giorgio, A Rubegni, L Pradotto, S Bagnoli, E Rubino, P Prontera, S Cavalieri, E Di Gregorio, M Ferrero,[...]. Eur J Neurol 2019
9

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli, Roberta Parolisi, Diana Iulia Gondor Morosini, Valentina Nicolò,[...]. Neurobiol Dis 2019
12

Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.
Cristina Puchades, Bojian Ding, Albert Song, R Luke Wiseman, Gabriel C Lander, Steven E Glynn. Mol Cell 2019
27

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions.
Barbara Bettegazzi, Ilaria Pelizzoni, Floramarida Salerno Scarzella, Lisa Michelle Restelli, Daniele Zacchetti, Francesca Maltecca, Giorgio Casari, Fabio Grohovaz, Franca Codazzi. Oxid Med Cell Longev 2019
1

Dissecting Substrate Specificities of the Mitochondrial AFG3L2 Protease.
Bojian Ding, Dwight W Martin, Anthony J Rampello, Steven E Glynn. Biochemistry 2018
7

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, Paola Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E Elia,[...]. Hum Mutat 2018
17

SPG7 and Impaired Emotional Communication.
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa. Cerebellum 2017
8

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.
Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, Saad AlShahwan, Kalthoum Tlili, Khaled Hundallah, Brahim Tabarki. Pediatr Neurol 2017
13

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos. In Vivo 2017
12

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Davide Colavito, Veronica Maritan, Agnese Suppiej, Elda Del Giudice, Monica Mazzarolo, Stefania Miotto, Sofia Farina, Maurizio Dalle Carbonare, Stefano Piermarocchi, Alberta Leon. Biomed Rep 2017
11