A citation-based method for searching scientific literature

Valentina Baderna, Joshua Schultz, Lisa S Kearns, Michael Fahey, Bryony A Thompson, Jonathan B Ruddle, Aamira Huq, Francesca Maltecca. Acta Neuropathol Commun 2020
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity


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
100

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
100

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
100

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
14
66

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome.
Michal Cagalinec, Mailis Liiv, Zuzana Hodurova, Miriam Ann Hickey, Annika Vaarmann, Merle Mandel, Akbar Zeb, Vinay Choubey, Malle Kuum, Dzhamilja Safiulina,[...]. PLoS Biol 2016
51
66

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
66

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
Hanan E Shamseldin, Muneera Alshammari, Tarfa Al-Sheddi, Mustafa A Salih, Hisham Alkhalidi, Amal Kentab, Gabriela M Repetto, Mais Hashem, Fowzan S Alkuraya. J Med Genet 2012
113
66

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
66

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
43
66

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
66

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
66

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Giacomo Bitetto, Maria Chiara Malaguti, Roberto Ceravolo, Edoardo Monfrini, Letizia Straniero, Alberto Morini, Raffaella Di Giacopo, Daniela Frosini, Giovanni Palermo, Fabio Biella,[...]. Parkinsonism Relat Disord 2020
8
66

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
66

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
66

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Panagiotis I Sergouniotis, Rahat Perveen, Dawn L Thiselton, Konstantinos Giannopoulos, Marios Sarros, Jennifer R Davies, Susmito Biswas, Alec M Ansons, Jane L Ashworth, I Christopher Lloyd,[...]. Neurogenetics 2015
11
66

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome.
Claire Angebault, Jérémy Fauconnier, Simone Patergnani, Jennifer Rieusset, Alberto Danese, Corentin A Affortit, Jolanta Jagodzinska, Camille Mégy, Mélanie Quiles, Chantal Cazevieille,[...]. Sci Signal 2018
36
66

Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission.
Oliver C Losón, Zhiyin Song, Hsiuchen Chen, David C Chan. Mol Biol Cell 2013
580
66

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
88
66

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
66

Mitochondria-associated membranes as hubs for neurodegeneration.
Michiel Krols, Gert van Isterdael, Bob Asselbergh, Anna Kremer, Saskia Lippens, Vincent Timmerman, Sophie Janssens. Acta Neuropathol 2016
115
66

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
66

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
66

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
66

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.
Seung-Wook Ryu, Hyeon Joo Jeong, Myunghwan Choi, Mariusz Karbowski, Chulhee Choi. Cell Mol Life Sci 2010
46
66

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
Johannes Koch, René G Feichtinger, Peter Freisinger, Mechthild Pies, Falk Schrödl, Arcangela Iuso, Wolfgang Sperl, Johannes A Mayr, Holger Prokisch, Tobias B Haack. J Med Genet 2016
67
66

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
8
66

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
66

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
66

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
H Inoue, Y Tanizawa, J Wasson, P Behn, K Kalidas, E Bernal-Mizrachi, M Mueckler, H Marshall, H Donis-Keller, P Crock,[...]. Nat Genet 1998
499
66

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.
Timothy Wells, Jennifer R Davies, Irina A Guschina, Daniel J Ball, Jeffrey S Davies, Vanessa J Davies, Bronwen A J Evans, Marcela Votruba. Hum Mol Genet 2012
15
66

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
66

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter,[...]. Neurology 2017
49
66

The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission.
Ruchika Anand, Timothy Wai, Michael J Baker, Nikolay Kladt, Astrid C Schauss, Elena Rugarli, Thomas Langer. J Cell Biol 2014
385
66

A lethal defect of mitochondrial and peroxisomal fission.
Hans R Waterham, Janet Koster, Carlo W T van Roermund, Petra A W Mooyer, Ronald J A Wanders, James V Leonard. N Engl J Med 2007
519
66

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
5
66

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Francesca Tagliavini,[...]. Sci Rep 2020
11
66

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
66

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre. PLoS One 2014
23
66

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
66


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

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Mariame Selma Kane, Jennifer Alban, Valérie Desquiret-Dumas, Naïg Gueguen, Layal Ishak, Marc Ferre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers,[...]. J Cell Mol Med 2017
24
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
66

Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.
Thomas MacVicar, Yohsuke Ohba, Hendrik Nolte, Fiona Carola Mayer, Takashi Tatsuta, Hans-Georg Sprenger, Barbara Lindner, Yue Zhao, Jiahui Li, Christiane Bruns,[...]. Nature 2019
51
66

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
66

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
66

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman, Vardiella Meiner, Ann Saada. Am J Med Genet A 2016
59
66

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Fabiana Longo, Sara Benedetti, Alberto A Zambon, Maria Grazia Natali Sora, Chiara Di Resta, Daniele De Ritis, Angelo Quattrini, Francesca Maltecca, Maurizio Ferrari, Stefano Carlo Previtali. Hum Mol Genet 2020
14
66

Wolfram syndrome: MAMs' connection?
Benjamin Delprat, Tangui Maurice, Cécile Delettre. Cell Death Dis 2018
29
66

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
66


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.