A citation-based method for searching scientific literature

Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort-Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkute, Patrick Yu-Wai-Man, Francesca Tagliavini, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers. Neurol Genet 2020
Times Cited: 14







List of co-cited articles
240 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
110
64

Dominant optic atrophy.
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea. Orphanet J Rare Dis 2012
133
50

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier,[...]. J Med Genet 2004
108
50

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, G De Michele, A Filla, S Cocozza, R Marconi,[...]. Cell 1998
600
50

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre,[...]. Brain 2017
63
50

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
Sylvie Gerber, Martina G Ding, Xavier Gérard, Klaus Zwicker, Xavier Zanlonghi, Marlène Rio, Valérie Serre, Sylvain Hanein, Arnold Munnich, Agnès Rotig,[...]. J Med Genet 2017
18
42

Multi-system neurological disease is common in patients with OPA1 mutations.
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali,[...]. Brain 2010
268
42

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer-Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers,[...]. Elife 2016
62
42

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
10
60

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Joanna Grenier, Isabelle Meunier, Vincent Daien, Corinne Baudoin, François Halloy, Béatrice Bocquet, Catherine Blanchet, Cécile Delettre, Etienne Esmenjaud, Agathe Roubertie,[...]. Ophthalmology 2016
24
42

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, Arnaud Chevrollier, Annie Verschueren, Nathalie Bonello-Palot, Konstantina Fragaki, Aline Cano, Jean Pouget, Jean-François Pellissier,[...]. Brain 2012
149
42

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manes, Arka Chakraborty, Audrey Sénéchal, Béatrice Bocquet,[...]. J Clin Invest 2020
21
42

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston,[...]. Brain 2014
103
42

A neurodegenerative perspective on mitochondrial optic neuropathies.
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli. Acta Neuropathol 2016
77
35

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Vanessa J Davies, Andrew J Hollins, Malgorzata J Piechota, Wanfen Yip, Jennifer R Davies, Kathryn E White, Phillip P Nicols, Michael E Boulton, Marcela Votruba. Hum Mol Genet 2007
285
35

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien, Xavier Gérard, Patrizia Amati-Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kaminska,[...]. J Med Genet 2014
60
35

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Claudia Zanna, Anna Ghelli, Anna Maria Porcelli, Mariusz Karbowski, Richard J Youle, Simone Schimpf, Bernd Wissinger, Marcello Pinti, Andrea Cossarizza, Sara Vidoni,[...]. Brain 2008
234
35

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
C Delettre, G Lenaers, J M Griffoin, N Gigarel, C Lorenzo, P Belenguer, L Pelloquin, J Grosgeorge, C Turc-Carel, E Perret,[...]. Nat Genet 2000
35

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
348
35

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
C Alexander, M Votruba, U E Pesch, D L Thiselton, S Mayer, A Moore, M Rodriguez, U Kellner, B Leo-Kottler, G Auburger,[...]. Nat Genet 2000
927
35

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Lucas Fares-Taie, Naig Gueguen, François Halloy, David Moore, Patrizia Amati-Bonneau,[...]. Am J Hum Genet 2015
34
35

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre,[...]. Am J Hum Genet 2009
62
35

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Neringa Jurkute, Costin Leu, Hans-Martin Pogoda, Gavin Arno, Anthony G Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad Reza Toliat,[...]. Ann Neurol 2019
20
35

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Valentina Del Dotto, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gusic, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Francesca Tagliavini, Evan Harris Baugh,[...]. J Clin Invest 2020
32
35

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
210
35

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
U E Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, E Apfelstedt-Sylla, E Zrenner, C Alexander, B Wissinger. Hum Mol Genet 2001
148
28

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Alexander J Abrams, Robert B Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A Gonzalez, Ion J Campeanu, Laurie B Griffin, Saskia Groenewald, Alleene V Strickland,[...]. Nat Genet 2015
111
28

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian,[...]. JAMA Neurol 2018
14
28

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Valerio Carelli, Olimpia Musumeci, Leonardo Caporali, Claudia Zanna, Chiara La Morgia, Valentina Del Dotto, Anna Maria Porcelli, Michela Rugolo, Maria Lucia Valentino, Luisa Iommarini,[...]. Ann Neurol 2015
100
28

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Patrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, Maria Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Henry Rivera, Jesús González de la Aleja, Rosanna Carroccia,[...]. Brain 2008
348
28

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy.
Marta Zaninello, Konstantinos Palikaras, Deborah Naon, Keiko Iwata, Stephanie Herkenne, Ruben Quintana-Cabrera, Martina Semenzato, Francesca Grespi, Fred N Ross-Cisneros, Valerio Carelli,[...]. Nat Commun 2020
20
28

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, Joanna D Stewart, Langping He, Andrew M Schaefer, Philip G Griffiths, Kati Ahlqvist, Anu Suomalainen, Pascal Reynier,[...]. Brain 2008
281
28

Disturbed mitochondrial dynamics and neurodegenerative disorders.
Florence Burté, Valerio Carelli, Patrick F Chinnery, Patrick Yu-Wai-Man. Nat Rev Neurol 2015
373
28

Mitochondrial dysfunction as a cause of optic neuropathies.
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Prog Retin Eye Res 2004
521
28

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Marcel V Alavi, Stefanie Bette, Simone Schimpf, Frank Schuettauf, Ulrich Schraermeyer, Hans F Wehrl, Lukas Ruttiger, Susanne C Beck, Felix Tonagel, Bernd J Pichler,[...]. Brain 2007
180
28

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
Emmanuelle Sarzi, Claire Angebault, Marie Seveno, Naïg Gueguen, Benjamin Chaix, Guy Bielicki, Nathalie Boddaert, Anne-Laure Mausset-Bonnefont, Chantal Cazevieille, Valérie Rigau,[...]. Brain 2012
69
28

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley,[...]. PLoS Genet 2011
137
28

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Alejandro Horga, Enrico Bugiardini, Andreea Manole, Fion Bremner, Zane Jaunmuktane, Lois Dankwa, Adriana P Rebelo, Catherine E Woodward, Iain P Hargreaves, Andrea Cortese,[...]. Neurol Genet 2019
8
50

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Marie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, Dana Dayan, Katarina Stingl, Reut Ben-Menachem, Ophry Pines, François Massart, Sylvie Delcambre, Jenny Ghelfi,[...]. Sci Rep 2020
6
66

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.
Valentina Del Dotto, Mario Fogazza, Francesco Musiani, Alessandra Maresca, Serena J Aleo, Leonardo Caporali, Chiara La Morgia, Cecilia Nolli, Tiziana Lodi, Paola Goffrini,[...]. Biochim Biophys Acta Mol Basis Dis 2018
23
28

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi,[...]. Hum Mutat 2009
108
28

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio,[...]. Orphanet J Rare Dis 2019
17
28

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Barend F T Hogewind, Ronald J E Pennings, Frans A Hol, Henricus P M Kunst, Elisabeth H Hoefsloot, Johannes R M Cruysberg, Cor W R J Cremers. Mol Vis 2010
30
28

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
77
28


Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.
David S Lynch, Samantha H Y Loh, Jasmine Harley, Alastair J Noyce, L Miguel Martins, Nicholas W Wood, Henry Houlden, Helene Plun-Favreau. Neurol Genet 2017
15
21

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.
Martina Romagnoli, Chiara La Morgia, Michele Carbonelli, Lidia Di Vito, Giulia Amore, Corrado Zenesini, Maria Lucia Cascavilla, Piero Barboni, Valerio Carelli. Ann Clin Transl Neurol 2020
10
30

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Patrick Yu-Wai-Man, Philip G Griffiths, Ailbhe Burke, Peter W Sellar, Michael P Clarke, Lawrence Gnanaraj, Desiree Ah-Kine, Gavin Hudson, Birgit Czermin, Robert W Taylor,[...]. Ophthalmology 2010
110
21

Gene-environment interactions in Leber hereditary optic neuropathy.
Matthew Anthony Kirkman, Patrick Yu-Wai-Man, Alex Korsten, Miriam Leonhardt, Konstantin Dimitriadis, Ireneaus F De Coo, Thomas Klopstock, Patrick Francis Chinnery. Brain 2009
205
21

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
Marielle Payne, Zhenglin Yang, Bradley J Katz, Judith E A Warner, Christopher J Weight, Yu Zhao, Erik D Pearson, Robert L Treft, Todd Hillman, Richard J Kennedy,[...]. Am J Ophthalmol 2004
69
21


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.