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



Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Sole, Alain Destée, Jean-Michel Mayer, Bertrand Fontaine, Jérôme de Seze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stevanin, Josseline Kaplan, Jean-Michel Rozet, Alexis Brice, Alexandra Durr. Brain 2012
Times Cited: 110




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

Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.
Alessandra Maresca, Valerio Carelli. Biomolecules 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

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

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

Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
45

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

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Xiaoqian Zhang, Lei Zhang, Yanqing Wu, Gang Li, Shengcai Chen, Yuanpeng Xia, Hongge Li. BMC Neurol 2018
0

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

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo,[...]. Brain 2017
57

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

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
S L Rydning, I M Wedding, J Koht, M Chawla, A-M Øye, Y Sheng, M D Vigeland, K K Selmer, C M E Tallaksen. Eur J Neurol 2016
10

Movement disorders in mitochondrial diseases.
C Tranchant, M Anheim. Rev Neurol (Paris) 2016
29