A citation-based method for searching scientific literature

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
Times Cited: 27






Login to export Results
Don't have an account? Register here

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



Times Cited
  Times     Co-cited
Similarity


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
216
18
66

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
141
14
51

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
112
13
48

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
143
12
44

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
110
10
37

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Davide Colavito, Veronica Maritan, Agnese Suppiej, Elda Del Giudice, Monica Mazzarolo, Stefania Miotto, Sofia Farina, Maurizio Dalle Carbonare, Stefano Piermarocchi, Alberta Leon. Biomed Rep 2017
12
10
83

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
1047
9
33

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
948
9
33

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
159
9
33

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
607
9
33

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.
Mark Nolden, Sarah Ehses, Mirko Koppen, Andrea Bernacchia, Elena I Rugarli, Thomas Langer. Cell 2005
279
8
29

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Marc Ferré, Angélique Caignard, Dan Milea, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati-Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio,[...]. Hum Mutat 2015
35
8
29

The mitochondrial protease AFG3L2 is essential for axonal development.
Francesca Maltecca, Asadollah Aghaie, David G Schroeder, Laura Cassina, Benjamin A Taylor, Sandra J Phillips, Mariachiara Malaguti, Stefano Previtali, Jean-Louis Guénet, Angelo Quattrini,[...]. J Neurosci 2008
80
8
29

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L Margolis, Susan E Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan,[...]. Hum Mutat 2010
62
8
29

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
278
7
25

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlke. Eur J Hum Genet 2010
39
7
25

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.
Francesca Maltecca, Raffaella Magnoni, Federica Cerri, Gregory A Cox, Angelo Quattrini, Giorgio Casari. J Neurosci 2009
76
7
25

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
7
25

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
6
22

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
367
6
22

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
6
22

Disturbed mitochondrial dynamics and neurodegenerative disorders.
Florence Burté, Valerio Carelli, Patrick F Chinnery, Patrick Yu-Wai-Man. Nat Rev Neurol 2015
391
6
22

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
Eva R Almajan, Ricarda Richter, Lars Paeger, Paola Martinelli, Esther Barth, Thorsten Decker, Nils-Göran Larsson, Peter Kloppenburg, Thomas Langer, Elena I Rugarli. J Clin Invest 2012
74
6
22

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
Anna Mareike Löbbe, Jun-Suk Kang, Rüdiger Hilker, Holger Hackstein, Ulrich Müller, Dagmar Nolte. J Mol Neurosci 2014
18
6
33

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Christine Zühlke, Barbara Mikat, Dagmar Timmann, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Katrin Bürk. Cerebellum Ataxias 2015
16
6
37

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
415
6
22

Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.
Sarah Ehses, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I Rugarli, Thomas Langer. J Cell Biol 2009
388
6
22

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Stephan Züchner, Irina V Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Elena L Dadali, Mario Zappia, Eva Nelis, Alessandra Patitucci, Jan Senderek,[...]. Nat Genet 2004
1112
5
18

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
110
5
18

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
Amy C Cohn, Carmel Toomes, Catherine Potter, Katherine V Towns, Alex W Hewitt, Chris F Inglehearn, Jamie E Craig, David A Mackey. Am J Ophthalmol 2007
86
5
18

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
40
5
18

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
361
5
18

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
5
18

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
115
5
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
5
18

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
Francesca Maltecca, Diego De Stefani, Laura Cassina, Francesco Consolato, Michal Wasilewski, Luca Scorrano, Rosario Rizzuto, Giorgio Casari. Hum Mol Genet 2012
41
5
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
86
5
18

Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness.
Uwe Richter, Taina Lahtinen, Paula Marttinen, Fumi Suomi, Brendan J Battersby. J Cell Biol 2015
60
5
18

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci,[...]. Nat Genet 2015
159
5
18

m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.
Maria Patron, Hans-Georg Sprenger, Thomas Langer. Cell Res 2018
49
5
18

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics.
Francesco Consolato, Francesca Maltecca, Susanna Tulli, Irene Sambri, Giorgio Casari. J Cell Sci 2018
25
5
20

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.
Tiziana Sacco, Enrica Boda, Eriola Hoxha, Riccardo Pizzo, Claudia Cagnoli, Alfredo Brusco, Filippo Tempia. BMC Neurosci 2010
20
4
20

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Tobias Bonifert, Kathrin N Karle, Felix Tonagel, Marion Batra, Christian Wilhelm, Yvonne Theurer, Caroline Schoenfeld, Torsten Kluba, York Kamenisch, Valerio Carelli,[...]. Brain 2014
49
4
14

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Nanna D Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R Johansen, Arti Pandya, Katherine O Welch, Virginia W Norris, Kathleen S Arnos, Maria Bitner-Glindzicz, Sarah B Emery,[...]. Am J Med Genet A 2011
69
4
14

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret-Dumas, Sylvie N'Guyen, Magalie Barth, Xavier Zanlonghi,[...]. Brain 2014
47
4
14

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
292
4
14

'Behr syndrome' with OPA1 compound heterozygote mutations.
Valerio Carelli, Mario Sabatelli, Rosalba Carrozzo, Teresa Rizza, Simone Schimpf, Bernd Wissinger, Claudia Zanna, Michela Rugolo, Chiara La Morgia, Leonardo Caporali,[...]. Brain 2015
36
4
14

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
530
4
14

Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation.
Arun Kumar Kondadi, Shuaiyu Wang, Sara Montagner, Nikolay Kladt, Anne Korwitz, Paola Martinelli, David Herholz, Michael J Baker, Astrid C Schauss, Thomas Langer,[...]. EMBO J 2014
47
4
14

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Zuzana Musova, Michaela Kaiserova, Eva Kriegova, Regina Fillerova, Peter Vasovcak, Alena Santava, Katerina Mensikova, Alena Zumrova, Anna Krepelova, Zdenek Sedlacek,[...]. Cerebellum 2014
15
4
26


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.

Longstocking, LLC. © 2021
Home | About Us | FAQs | Terms & Privacy