A citation-based method for searching scientific literature

Alessandra Maresca, Valerio Carelli. Biomolecules 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


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
15
100

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
100

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
100

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
26
100

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
15
100

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
13
100

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
100

Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Firuzeh Rajabian, Maria Pia Manitto, Flavia Palombo, Leonardo Caporali, Alessio Grazioli, Vincenzo Starace, Alessandro Arrigo, Maria Lucia Cascavilla, Chiara La Morgia, Piero Barboni,[...]. J Neuroophthalmol 2021
4
100

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
107
100

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
100

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
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
40
100

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
24
100

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
100

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
275
100

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
68
100

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.
Chiara La Morgia, Leonardo Caporali, Francesca Tagliavini, Flavia Palombo, Michele Carbonelli, Rocco Liguori, Piero Barboni, Valerio Carelli. Neurol Genet 2019
8
100

A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Isabelle Meunier, Béatrice Bocquet, Majida Charif, Claire-Marie Dhaenens, Gael Manes, Patrizia Amati-Bonneau, Agathe Roubertie, Xavier Zanlonghi, Guy Lenaers. Retina 2021
2
100

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Majida Charif, Naïg Gueguen, Marc Ferré, Zouhair Elkarhat, Salim Khiati, Morgane LeMao, Arnaud Chevrollier, Valerie Desquiret-Dumas, David Goudenège, Céline Bris,[...]. Brain Commun 2021
4
100

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
11
100

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
36
100

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
64
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
156
100

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
25
100

NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
Luigi D'Angelo, Elisa Astro, Monica De Luise, Ivana Kurelac, Nikkitha Umesh-Ganesh, Shujing Ding, Ian M Fearnley, Giuseppe Gasparre, Massimo Zeviani, Anna Maria Porcelli,[...]. Cell Rep 2021
2
100

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
C Toomes, N J Marchbank, D A Mackey, J E Craig, R A Newbury-Ecob, C P Bennett, C J Vize, S P Desai, G C Black, N Patel,[...]. Hum Mol Genet 2001
121
50

Ubiquitin-like protein 5 positively regulates chaperone gene expression in the mitochondrial unfolded protein response.
Cristina Benedetti, Cole M Haynes, Yun Yang, Heather P Harding, David Ron. Genetics 2006
237
50

Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells.
Hidenori Otera, Chunxin Wang, Megan M Cleland, Kiyoko Setoguchi, Sadaki Yokota, Richard J Youle, Katsuyoshi Mihara. J Cell Biol 2010
649
50

The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Min Jiang, Xie Xie, Xuefeng Zhu, Shan Jiang, Dusanka Milenkovic, Jelena Misic, Yonghong Shi, Nirwan Tandukar, Xinping Li, Ilian Atanassov,[...]. Sci Adv 2021
6
50


Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh. BMC Med Genet 2019
7
50


The zebrafish reference genome sequence and its relationship to the human genome.
Kerstin Howe, Matthew D Clark, Carlos F Torroja, James Torrance, Camille Berthelot, Matthieu Muffato, John E Collins, Sean Humphray, Karen McLaren, Lucy Matthews,[...]. Nature 2013
50

Downregulation of Mitochondrial Single Stranded DNA Binding Protein (SSBP1) Induces Mitochondrial Dysfunction and Increases the Radiosensitivity in Non-Small Cell Lung Cancer Cells.
You Wang, Liu Hu, Ximei Zhang, Hong Zhao, Hui Xu, Yuehua Wei, Huangang Jiang, Conghua Xie, Yunfeng Zhou, Fuxiang Zhou. J Cancer 2017
15
50

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
58
50

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
149
50

Systematic Comparison of Retinal Organoid Differentiation from Human Pluripotent Stem Cells Reveals Stage Specific, Cell Line, and Methodological Differences.
Carla B Mellough, Joseph Collin, Rachel Queen, Gerrit Hilgen, Birthe Dorgau, Darin Zerti, Majed Felemban, Kathryn White, Evelyne Sernagor, Majlinda Lako. Stem Cells Transl Med 2019
43
50

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
25
50

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.
Aurélie M C Millet, Ambre M Bertholet, Marlène Daloyau, Pascal Reynier, Anne Galinier, Anne Devin, Bernd Wissinguer, Pascale Belenguer, Noélie Davezac. Ann Clin Transl Neurol 2016
22
50

Mitochondrial single-stranded DNA-binding protein is required for mitochondrial DNA replication and development in Drosophila melanogaster.
D Maier, C L Farr, B Poeck, A Alahari, M Vogel, S Fischer, L S Kaguni, S Schneuwly. Mol Biol Cell 2001
62
50


Extension of retinofugal projections in an assembled model of human pluripotent stem cell-derived organoids.
Clarisse M Fligor, Sailee S Lavekar, Jade Harkin, Priya K Shields, Kirstin B VanderWall, Kang-Chieh Huang, Cátia Gomes, Jason S Meyer. Stem Cell Reports 2021
8
50

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
116
50

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
114
50


Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Yu-Hsin Chao, Laurie A Robak, Fan Xia, Mary K Koenig, Adekunle Adesina, Carlos A Bacino, Fernando Scaglia, Hugo J Bellen, Michael F Wangler. Hum Mol Genet 2016
43
50

Energy metabolism of the visual system.
Margaret T T Wong-Riley. Eye Brain 2010
224
50

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
N Fuhrmann, M V Alavi, P Bitoun, S Woernle, G Auburger, B Leo-Kottler, P Yu-Wai-Man, P Chinnery, B Wissinger. J Med Genet 2009
39
50

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Majida Charif, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Estelle Colin, Alban Ziegler, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Guy Lenaers,[...]. Front Neurol 2021
2
50

Opa1 is required for proper mitochondrial metabolism in early development.
Jennifer J Rahn, Krista D Stackley, Sherine S L Chan. PLoS One 2013
36
50


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.