A citation-based method for searching scientific literature

Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Agca, Ungsoo S Kim, Pascal Reynier, Patrick Yu-Wai-Man, John Neidhardt, Bernd Wissinger. Prog Retin Eye Res 2021
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


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
70
45

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
277
45

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
16
36

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
292
36

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
27
36

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
238
36

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
360
36

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
109
36

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
41
36

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
365
36

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
13
36

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
26
36

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
36

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia A Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali,[...]. J Clin Invest 2021
22
27

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
26
27

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
19
27

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
17
27

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
109
27

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
288
27

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
Juan Manuel Chao de la Barca, Mario Fogazza, Michela Rugolo, Stéphanie Chupin, Valentina Del Dotto, Anna Maria Ghelli, Valerio Carelli, Gilles Simard, Vincent Procaccio, Dominique Bonneau,[...]. Hum Mol Genet 2020
9
33

Mitochondrial dysfunction as a cause of optic neuropathies.
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Prog Retin Eye Res 2004
538
27

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
27

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
39
27

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
66
27

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
185
27

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
158
27

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
141
27


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
947
27

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
20
27

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
27

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.
L Giordano, S Deceglie, P d'Adamo, M L Valentino, C La Morgia, F Fracasso, M Roberti, M Cappellari, G Petrosillo, S Ciaravolo,[...]. Cell Death Dis 2015
71
18

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
84
18

OPA1 processing in cell death and disease - the long and short of it.
Thomas MacVicar, Thomas Langer. J Cell Sci 2016
242
18

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schöneborn, Kate Pope, Katherine B Howell, Catriona A McLean, Andrew J Kornberg,[...]. Brain 2016
46
18

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
62
18

Optic neuropathies: the tip of the neurodegeneration iceberg.
Valerio Carelli, Chiara La Morgia, Fred N Ross-Cisneros, Alfredo A Sadun. Hum Mol Genet 2017
51
18

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Valerio Carelli, Pio d'Adamo, Maria Lucia Valentino, Chiara La Morgia, Fred N Ross-Cisneros, Leonardo Caporali, Alessandra Maresca, Paola Loguercio Polosa, Piero Barboni, Annamaria De Negri,[...]. Brain 2016
34
18

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski, Nicolas Sgarioto, Christine Des Rosiers, Anik Forest, Zhen-Yuan Lin, Anne-Claude Gingras,[...]. EMBO Mol Med 2016
95
18

Mitofusin 2 tethers endoplasmic reticulum to mitochondria.
Olga Martins de Brito, Luca Scorrano. Nature 2008
18

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
25

The clinical maze of mitochondrial neurology.
Salvatore DiMauro, Eric A Schon, Valerio Carelli, Michio Hirano. Nat Rev Neurol 2013
216
18

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
25
18

Induced pluripotent stem cell technology: a decade of progress.
Yanhong Shi, Haruhisa Inoue, Joseph C Wu, Shinya Yamanaka. Nat Rev Drug Discov 2017
594
18

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
211
18

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
111
18

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Roa Sadat, Emanuele Barca, Ruchi Masand, Taraka R Donti, Ali Naini, Darryl C De Vivo, Salvatore DiMauro, Neil A Hanchard, Brett H Graham. Mol Genet Metab 2016
26
18

Disturbed mitochondrial dynamics and neurodegenerative disorders.
Florence Burté, Valerio Carelli, Patrick F Chinnery, Patrick Yu-Wai-Man. Nat Rev Neurol 2015
385
18

Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
Luke E Formosa, Boris Reljic, Alice J Sharpe, Daniella H Hock, Linden Muellner-Wong, David A Stroud, Michael T Ryan. Proc Natl Acad Sci U S A 2021
6
33

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Valerio Carelli, Alessandro Achilli, Maria Lucia Valentino, Chiara Rengo, Ornella Semino, Maria Pala, Anna Olivieri, Marina Mattiazzi, Francesco Pallotti, Franco Carrara,[...]. Am J Hum Genet 2006
145
18


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.