Friedrich Kretschmer, Momina Tariq, Walid Chatila, Beverly Wu, Tudor Constantin Badea. J Neurophysiol 2017
Times Cited: 30
Times Cited: 30
Times Cited
Times Co-cited
Similarity
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
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
8
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
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea. Orphanet J Rare Dis 2012
3
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Esther Meyer, Michel Michaelides, Louise J Tee, Anthony G Robson, Fatimah Rahman, Shanaz Pasha, Linda M Luxon, Anthony T Moore, Eamonn R Maher. Mol Vis 2010
Esther Meyer, Michel Michaelides, Louise J Tee, Anthony G Robson, Fatimah Rahman, Shanaz Pasha, Linda M Luxon, Anthony T Moore, Eamonn R Maher. Mol Vis 2010
3
CRISPR-READI: Efficient Generation of Knockin Mice by CRISPR RNP Electroporation and AAV Donor Infection.
Sean Chen, Sabrina Sun, Dewi Moonen, Clancy Lee, Angus Yiu-Fai Lee, David V Schaffer, Lin He. Cell Rep 2019
Sean Chen, Sabrina Sun, Dewi Moonen, Clancy Lee, Angus Yiu-Fai Lee, David V Schaffer, Lin He. Cell Rep 2019
3
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46.
Kojiro Suda, Ibuki Ueoka, Yumiko Azuma, Yuuka Muraoka, Hideki Yoshida, Masamitsu Yamaguchi. Brain Res 2018
Kojiro Suda, Ibuki Ueoka, Yumiko Azuma, Yuuka Muraoka, Hideki Yoshida, Masamitsu Yamaguchi. Brain Res 2018
6
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
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
3
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
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
8
Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.
Alessandra Maresca, Valerio Carelli. Biomolecules 2021
Alessandra Maresca, Valerio Carelli. Biomolecules 2021
50
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
Sabine Hofmann, Christine Philbrook, Klaus-Dieter Gerbitz, Matthias F Bauer. Hum Mol Genet 2003
Sabine Hofmann, Christine Philbrook, Klaus-Dieter Gerbitz, Matthias F Bauer. Hum Mol Genet 2003
3
Disruption of mitochondrial dynamics affects behaviour and lifespan in Caenorhabditis elegans.
Joseph J Byrne, Ming S Soh, Gursimran Chandhok, Tarika Vijayaraghavan, Jean-Sébastien Teoh, Simon Crawford, Ansa E Cobham, Nethmi M B Yapa, Christen K Mirth, Brent Neumann. Cell Mol Life Sci 2019
Joseph J Byrne, Ming S Soh, Gursimran Chandhok, Tarika Vijayaraghavan, Jean-Sébastien Teoh, Simon Crawford, Ansa E Cobham, Nethmi M B Yapa, Christen K Mirth, Brent Neumann. Cell Mol Life Sci 2019
3
How the optic nerve allocates space, energy capacity, and information.
János A Perge, Kristin Koch, Robert Miller, Peter Sterling, Vijay Balasubramanian. J Neurosci 2009
János A Perge, Kristin Koch, Robert Miller, Peter Sterling, Vijay Balasubramanian. J Neurosci 2009
3
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
Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre. PLoS One 2014
4
CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
Silvana Guerriero, Francesco D'Oria, Giacomo Rossetti, Rosa Anna Favale, Stefano Zoccolella, Giovanni Alessio, Vittoria Petruzzella. Int Med Case Rep J 2020
Silvana Guerriero, Francesco D'Oria, Giacomo Rossetti, Rosa Anna Favale, Stefano Zoccolella, Giovanni Alessio, Vittoria Petruzzella. Int Med Case Rep J 2020
20
The hope and the hype of organoid research.
Meritxell Huch, Juergen A Knoblich, Matthias P Lutolf, Alfonso Martinez-Arias. Development 2017
Meritxell Huch, Juergen A Knoblich, Matthias P Lutolf, Alfonso Martinez-Arias. Development 2017
3
Axonal Transport and Mitochondrial Function in Neurons.
Amrita Mandal, Catherine M Drerup. Front Cell Neurosci 2019
Amrita Mandal, Catherine M Drerup. Front Cell Neurosci 2019
3
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
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre,[...]. Brain 2017
3
Siblings with optic neuropathy and RTN4IP1 mutation.
Nobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, Yasuhiro Suzuki, Kazumi Kawato, Yuto Yamamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki,[...]. J Hum Genet 2017
Nobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, Yasuhiro Suzuki, Kazumi Kawato, Yuto Yamamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki,[...]. J Hum Genet 2017
20
IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells.
Carla B Mellough, Joseph Collin, Mahmoud Khazim, Kathryn White, Evelyne Sernagor, David H W Steel, Majlinda Lako. Stem Cells 2015
Carla B Mellough, Joseph Collin, Mahmoud Khazim, Kathryn White, Evelyne Sernagor, David H W Steel, Majlinda Lako. Stem Cells 2015
3
A novel molecular solution for ultraviolet light detection in Caenorhabditis elegans.
Stacey L Edwards, Nicole K Charlie, Marie C Milfort, Brandon S Brown, Christen N Gravlin, Jamie E Knecht, Kenneth G Miller. PLoS Biol 2008
Stacey L Edwards, Nicole K Charlie, Marie C Milfort, Brandon S Brown, Christen N Gravlin, Jamie E Knecht, Kenneth G Miller. PLoS Biol 2008
3
Electroretinogram recordings of Drosophila.
Patrick Dolph, Amit Nair, Padinjat Raghu. Cold Spring Harb Protoc 2011
Patrick Dolph, Amit Nair, Padinjat Raghu. Cold Spring Harb Protoc 2011
9
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Julie Désir, Frauke Coppieters, Nicole Van Regemorter, Elfride De Baere, Marc Abramowicz, Monique Cordonnier. Mol Vis 2012
Julie Désir, Frauke Coppieters, Nicole Van Regemorter, Elfride De Baere, Marc Abramowicz, Monique Cordonnier. Mol Vis 2012
6
The short variant of the mitochondrial dynamin OPA1 maintains mitochondrial energetics and cristae structure.
Hakjoo Lee, Sylvia B Smith, Yisang Yoon. J Biol Chem 2017
Hakjoo Lee, Sylvia B Smith, Yisang Yoon. J Biol Chem 2017
3
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
Kazutoshi Takahashi, Koji Tanabe, Mari Ohnuki, Megumi Narita, Tomoko Ichisaka, Kiichiro Tomoda, Shinya Yamanaka. Cell 2007
Kazutoshi Takahashi, Koji Tanabe, Mari Ohnuki, Megumi Narita, Tomoko Ichisaka, Kiichiro Tomoda, Shinya Yamanaka. Cell 2007
3
DRP-1-mediated apoptosis induces muscle degeneration in dystrophin mutants.
Charlotte Scholtes, Stéphanie Bellemin, Edwige Martin, Maïté Carre-Pierrat, Bertrand Mollereau, Kathrin Gieseler, Ludivine Walter. Sci Rep 2018
Charlotte Scholtes, Stéphanie Bellemin, Edwige Martin, Maïté Carre-Pierrat, Bertrand Mollereau, Kathrin Gieseler, Ludivine Walter. Sci Rep 2018
10
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.
Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang. J Nanobiotechnology 2021
Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang. J Nanobiotechnology 2021
33
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
Alissa M D'Gama, Eleina England, Jill A Madden, Jiahai Shi, Katherine R Chao, Monica H Wojcik, Alcy R Torres, Wen-Hann Tan, Gerard T Berry, Sanjay P Prabhu,[...]. Am J Med Genet A 2021
Alissa M D'Gama, Eleina England, Jill A Madden, Jiahai Shi, Katherine R Chao, Monica H Wojcik, Alcy R Torres, Wen-Hann Tan, Gerard T Berry, Sanjay P Prabhu,[...]. Am J Med Genet A 2021
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
Chiara La Morgia, Leonardo Caporali, Francesca Tagliavini, Flavia Palombo, Michele Carbonelli, Rocco Liguori, Piero Barboni, Valerio Carelli. Neurol Genet 2019
12
Local Accumulation of Axonal Mitochondria in the Optic Nerve Glial Lamina Precedes Myelination.
Samantha J Wilkison, Cora L Bright, Ricardo Vancini, Daniel J Song, Howard M Bomze, Romain Cartoni. Front Neuroanat 2021
Samantha J Wilkison, Cora L Bright, Ricardo Vancini, Daniel J Song, Howard M Bomze, Romain Cartoni. Front Neuroanat 2021
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
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
16
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Huiping Li, Shiqin Yuan, Yuriko Minegishi, Akiko Suga, Kazutoshi Yoshitake, Xunlun Sheng, Jianping Ye, Stuart Smith, Gabor Bunkoczi, Megumi Yamamoto,[...]. Hum Mol Genet 2020
Huiping Li, Shiqin Yuan, Yuriko Minegishi, Akiko Suga, Kazutoshi Yoshitake, Xunlun Sheng, Jianping Ye, Stuart Smith, Gabor Bunkoczi, Megumi Yamamoto,[...]. Hum Mol Genet 2020
12
Human Organoids for the Study of Retinal Development and Disease.
Claire M Bell, Donald J Zack, Cynthia A Berlinicke. Annu Rev Vis Sci 2020
Claire M Bell, Donald J Zack, Cynthia A Berlinicke. Annu Rev Vis Sci 2020
10
Persistence of Long-Term Memory in Vitrified and Revived Caenorhabditis elegans.
Natasha Vita-More, Daniel Barranco. Rejuvenation Res 2015
Natasha Vita-More, Daniel Barranco. Rejuvenation Res 2015
16
Identification and characterization of a novel Nogo-interacting mitochondrial protein (NIMP).
Wen-Hui Hu, Oliver N Hausmann, Ming-Shan Yan, Winston M Walters, Paul K Y Wong, John R Bethea. J Neurochem 2002
Wen-Hui Hu, Oliver N Hausmann, Ming-Shan Yan, Winston M Walters, Paul K Y Wong, John R Bethea. J Neurochem 2002
3
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
C H Lai, C Y Chou, L Y Ch'ang, C S Liu, W Lin. Genome Res 2000
C H Lai, C Y Chou, L Y Ch'ang, C S Liu, W Lin. Genome Res 2000
3
The Functional Impact of Mitochondrial Structure Across Subcellular Scales.
Brian Glancy, Yuho Kim, Prasanna Katti, T Bradley Willingham. Front Physiol 2020
Brian Glancy, Yuho Kim, Prasanna Katti, T Bradley Willingham. Front Physiol 2020
3
Mitochondrial dysfunction confers resistance to multiple drugs in Caenorhabditis elegans.
Iryna O Zubovych, Sarah Straud, Michael G Roth. Mol Biol Cell 2010
Iryna O Zubovych, Sarah Straud, Michael G Roth. Mol Biol Cell 2010
3
Regulation of mitochondrial plasticity by the i-AAA protease YME1L.
Yohsuke Ohba, Thomas MacVicar, Thomas Langer. Biol Chem 2020
Yohsuke Ohba, Thomas MacVicar, Thomas Langer. Biol Chem 2020
7
Programmed switch in the mitochondrial degradation pathways during human retinal ganglion cell differentiation from stem cells is critical for RGC survival.
Arupratan Das, Claire M Bell, Cynthia A Berlinicke, Nicholas Marsh-Armstrong, Donald J Zack. Redox Biol 2020
Arupratan Das, Claire M Bell, Cynthia A Berlinicke, Nicholas Marsh-Armstrong, Donald J Zack. Redox Biol 2020
25
MIEF1/2 function as adaptors to recruit Drp1 to mitochondria and regulate the association of Drp1 with Mff.
Rong Yu, Tong Liu, Shao-Bo Jin, Chenfei Ning, Urban Lendahl, Monica Nistér, Jian Zhao. Sci Rep 2017
Rong Yu, Tong Liu, Shao-Bo Jin, Chenfei Ning, Urban Lendahl, Monica Nistér, Jian Zhao. Sci Rep 2017
3
Context-dependent genetic architecture of Drosophila life span.
Wen Huang, Terry Campbell, Mary Anna Carbone, W Elizabeth Jones, Desiree Unselt, Robert R H Anholt, Trudy F C Mackay. PLoS Biol 2020
Wen Huang, Terry Campbell, Mary Anna Carbone, W Elizabeth Jones, Desiree Unselt, Robert R H Anholt, Trudy F C Mackay. PLoS Biol 2020
7
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory,[...]. Am J Hum Genet 2016
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory,[...]. Am J Hum Genet 2016
3
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
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
4
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Nurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, Pengfei Liu, Christine M Eng, Sarah H Elsea, Laurie A Robak, Fernando Scaglia, Alica M Goldman, Shweta U Dhar,[...]. Cold Spring Harb Mol Case Stud 2019
Nurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, Pengfei Liu, Christine M Eng, Sarah H Elsea, Laurie A Robak, Fernando Scaglia, Alica M Goldman, Shweta U Dhar,[...]. Cold Spring Harb Mol Case Stud 2019
6
Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion.
Zhiyin Song, Mariam Ghochani, J Michael McCaffery, Terrence G Frey, David C Chan. Mol Biol Cell 2009
Zhiyin Song, Mariam Ghochani, J Michael McCaffery, Terrence G Frey, David C Chan. Mol Biol Cell 2009
3
Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway.
S Kõks, U Soomets, J L Paya-Cano, C Fernandes, H Luuk, M Plaas, A Terasmaa, V Tillmann, K Noormets, E Vasar,[...]. Physiol Genomics 2009
S Kõks, U Soomets, J L Paya-Cano, C Fernandes, H Luuk, M Plaas, A Terasmaa, V Tillmann, K Noormets, E Vasar,[...]. Physiol Genomics 2009
3
Compromised mitochondrial fatty acid synthesis in transgenic mice results in defective protein lipoylation and energy disequilibrium.
Stuart Smith, Andrzej Witkowski, Ayesha Moghul, Yuko Yoshinaga, Michael Nefedov, Pieter de Jong, Dejiang Feng, Loren Fong, Yiping Tu, Yan Hu,[...]. PLoS One 2012
Stuart Smith, Andrzej Witkowski, Ayesha Moghul, Yuko Yoshinaga, Michael Nefedov, Pieter de Jong, Dejiang Feng, Loren Fong, Yiping Tu, Yan Hu,[...]. PLoS One 2012
3
A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family.
Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao. J Ophthalmol 2019
Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao. J Ophthalmol 2019
16
Efficient training of mice on the 5-choice serial reaction time task in an automated rodent training system.
Eszter Birtalan, Anita Bánhidi, Joshua I Sanders, Diána Balázsfi, Balázs Hangya. Sci Rep 2020
Eszter Birtalan, Anita Bánhidi, Joshua I Sanders, Diána Balázsfi, Balázs Hangya. Sci Rep 2020
25
Multiple Retinal Anomalies in Wfs1-Deficient Mice.
Arleta Waszczykowska, Agnieszka Zmysłowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, Wojciech Młynarski. Diagnostics (Basel) 2020
Arleta Waszczykowska, Agnieszka Zmysłowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, Wojciech Młynarski. Diagnostics (Basel) 2020
100
CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells.
Yi-Li Min, Hui Li, Cristina Rodriguez-Caycedo, Alex A Mireault, Jian Huang, John M Shelton, John R McAnally, Leonela Amoasii, Pradeep P A Mammen, Rhonda Bassel-Duby,[...]. Sci Adv 2019
Yi-Li Min, Hui Li, Cristina Rodriguez-Caycedo, Alex A Mireault, Jian Huang, John M Shelton, John R McAnally, Leonela Amoasii, Pradeep P A Mammen, Rhonda Bassel-Duby,[...]. Sci Adv 2019
3
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.