Sabita Singh, Ulaganathan Mabalirajan. Mitochondrion 2021
Times Cited: 2
Times Cited: 2
Times Cited
Times Co-cited
Similarity
A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter.
Diego De Stefani, Anna Raffaello, Enrico Teardo, Ildikò Szabò, Rosario Rizzuto. Nature 2011
Diego De Stefani, Anna Raffaello, Enrico Teardo, Ildikò Szabò, Rosario Rizzuto. Nature 2011
100
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.
Joshua M Baughman, Fabiana Perocchi, Hany S Girgis, Molly Plovanich, Casey A Belcher-Timme, Yasemin Sancak, X Robert Bao, Laura Strittmatter, Olga Goldberger, Roman L Bogorad,[...]. Nature 2011
Joshua M Baughman, Fabiana Perocchi, Hany S Girgis, Molly Plovanich, Casey A Belcher-Timme, Yasemin Sancak, X Robert Bao, Laura Strittmatter, Olga Goldberger, Roman L Bogorad,[...]. Nature 2011
100
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
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
50
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
Francesco Consolato, Francesca Maltecca, Susanna Tulli, Irene Sambri, Giorgio Casari. J Cell Sci 2018
50
Calcium signalling in diabetes.
Agustin Guerrero-Hernandez, Alexei Verkhratsky. Cell Calcium 2014
Agustin Guerrero-Hernandez, Alexei Verkhratsky. Cell Calcium 2014
50
Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease.
Zhihua Liu, Robin K Meray, Tom N Grammatopoulos, Ross A Fredenburg, Mark R Cookson, Yichin Liu, Todd Logan, Peter T Lansbury. Proc Natl Acad Sci U S A 2009
Zhihua Liu, Robin K Meray, Tom N Grammatopoulos, Ross A Fredenburg, Mark R Cookson, Yichin Liu, Todd Logan, Peter T Lansbury. Proc Natl Acad Sci U S A 2009
50
Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.
Daron Vandeleur, Constance V Chen, Eric J Huang, Andrew J Connolly, Henry Sanchez, Anita J Moon-Grady. Am J Med Genet A 2019
Daron Vandeleur, Constance V Chen, Eric J Huang, Andrew J Connolly, Henry Sanchez, Anita J Moon-Grady. Am J Med Genet A 2019
50
Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics.
Justyna Janikiewicz, Jędrzej Szymański, Dominika Malinska, Paulina Patalas-Krawczyk, Bernadeta Michalska, Jerzy Duszyński, Carlotta Giorgi, Massimo Bonora, Agnieszka Dobrzyn, Mariusz R Wieckowski. Cell Death Dis 2018
Justyna Janikiewicz, Jędrzej Szymański, Dominika Malinska, Paulina Patalas-Krawczyk, Bernadeta Michalska, Jerzy Duszyński, Carlotta Giorgi, Massimo Bonora, Agnieszka Dobrzyn, Mariusz R Wieckowski. Cell Death Dis 2018
50
The membrane scaffold SLP2 anchors a proteolytic hub in mitochondria containing PARL and the i-AAA protease YME1L.
Timothy Wai, Shotaro Saita, Hendrik Nolte, Sebastian Müller, Tim König, Ricarda Richter-Dennerlein, Hans-Georg Sprenger, Joaquin Madrenas, Mareike Mühlmeister, Ulrich Brandt,[...]. EMBO Rep 2016
Timothy Wai, Shotaro Saita, Hendrik Nolte, Sebastian Müller, Tim König, Ricarda Richter-Dennerlein, Hans-Georg Sprenger, Joaquin Madrenas, Mareike Mühlmeister, Ulrich Brandt,[...]. EMBO Rep 2016
50
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro,[...]. J Med Genet 2019
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro,[...]. J Med Genet 2019
50
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
Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal,[...]. Neurol Genet 2020
50
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
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
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
Michal Cagalinec, Mailis Liiv, Zuzana Hodurova, Miriam Ann Hickey, Annika Vaarmann, Merle Mandel, Akbar Zeb, Vinay Choubey, Malle Kuum, Dzhamilja Safiulina,[...]. PLoS Biol 2016
50
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
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli. Acta Neuropathol 2016
50
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Agca, Ungsoo S Kim,[...]. Prog Retin Eye Res 2021
Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Agca, Ungsoo S Kim,[...]. Prog Retin Eye Res 2021
50
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
Elizabeth J Brown, Johannes S Schlöndorff, Daniel J Becker, Hiroyasu Tsukaguchi, Stephen J Tonna, Andrea L Uscinski, Henry N Higgs, Joel M Henderson, Martin R Pollak. Nat Genet 2010
Elizabeth J Brown, Johannes S Schlöndorff, Daniel J Becker, Hiroyasu Tsukaguchi, Stephen J Tonna, Andrea L Uscinski, Henry N Higgs, Joel M Henderson, Martin R Pollak. Nat Genet 2010
50
The coupling mechanism of mammalian respiratory complex I.
Domen Kampjut, Leonid A Sazanov. Science 2020
Domen Kampjut, Leonid A Sazanov. Science 2020
50
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, Paola Goffrini, Daniele Ghezzi. Hum Mutat 2016
Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, Paola Goffrini, Daniele Ghezzi. Hum Mutat 2016
50
Mitochondrial DNA: impacting central and peripheral nervous systems.
Valerio Carelli, David C Chan. Neuron 2014
Valerio Carelli, David C Chan. Neuron 2014
50
SLP-2 is required for stress-induced mitochondrial hyperfusion.
Daniel Tondera, Stéphanie Grandemange, Alexis Jourdain, Mariusz Karbowski, Yves Mattenberger, Sébastien Herzig, Sandrine Da Cruz, Pascaline Clerc, Ines Raschke, Carsten Merkwirth,[...]. EMBO J 2009
Daniel Tondera, Stéphanie Grandemange, Alexis Jourdain, Mariusz Karbowski, Yves Mattenberger, Sébastien Herzig, Sandrine Da Cruz, Pascaline Clerc, Ines Raschke, Carsten Merkwirth,[...]. EMBO J 2009
50
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.
A Torroni, M Petrozzi, L D'Urbano, D Sellitto, M Zeviani, F Carrara, C Carducci, V Leuzzi, V Carelli, P Barboni,[...]. Am J Hum Genet 1997
A Torroni, M Petrozzi, L D'Urbano, D Sellitto, M Zeviani, F Carrara, C Carducci, V Leuzzi, V Carelli, P Barboni,[...]. Am J Hum Genet 1997
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
Joanna Grenier, Isabelle Meunier, Vincent Daien, Corinne Baudoin, François Halloy, Béatrice Bocquet, Catherine Blanchet, Cécile Delettre, Etienne Esmenjaud, Agathe Roubertie,[...]. Ophthalmology 2016
50
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Nathalie Bernard-Marissal, Gerben van Hameren, Manisha Juneja, Christophe Pellegrino, Lauri Louhivuori, Luca Bartesaghi, Cylia Rochat, Omar El Mansour, Jean-Jacques Médard, Marie Croisier,[...]. Proc Natl Acad Sci U S A 2019
Nathalie Bernard-Marissal, Gerben van Hameren, Manisha Juneja, Christophe Pellegrino, Lauri Louhivuori, Luca Bartesaghi, Cylia Rochat, Omar El Mansour, Jean-Jacques Médard, Marie Croisier,[...]. Proc Natl Acad Sci U S A 2019
50
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.
M Degli Esposti, V Carelli, A Ghelli, M Ratta, M Crimi, S Sangiorgi, P Montagna, G Lenaz, E Lugaresi, P Cortelli. FEBS Lett 1994
M Degli Esposti, V Carelli, A Ghelli, M Ratta, M Crimi, S Sangiorgi, P Montagna, G Lenaz, E Lugaresi, P Cortelli. FEBS Lett 1994
50
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea,[...]. Ann Neurol 2008
Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea,[...]. Ann Neurol 2008
50
OPA1 processing in cell death and disease - the long and short of it.
Thomas MacVicar, Thomas Langer. J Cell Sci 2016
Thomas MacVicar, Thomas Langer. J Cell Sci 2016
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
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
50
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot,[...]. Hum Mol Genet 2017
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot,[...]. Hum Mol Genet 2017
50
Structural and functional features and significance of the physical linkage between ER and mitochondria.
György Csordás, Christian Renken, Péter Várnai, Ludivine Walter, David Weaver, Karolyn F Buttle, Tamás Balla, Carmen A Mannella, György Hajnóczky. J Cell Biol 2006
György Csordás, Christian Renken, Péter Várnai, Ludivine Walter, David Weaver, Karolyn F Buttle, Tamás Balla, Carmen A Mannella, György Hajnóczky. J Cell Biol 2006
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
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
50
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
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
50
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli. Mol Cell Neurosci 2013
Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli. Mol Cell Neurosci 2013
50
ALCAT1 controls mitochondrial etiology of fatty liver diseases, linking defective mitophagy to steatosis.
Li Wang, Xiaolei Liu, Jia Nie, Jun Zhang, Scot R Kimball, Hai Zhang, Weiping J Zhang, Leonard S Jefferson, Zeneng Cheng, Qiuhe Ji,[...]. Hepatology 2015
Li Wang, Xiaolei Liu, Jia Nie, Jun Zhang, Scot R Kimball, Hai Zhang, Weiping J Zhang, Leonard S Jefferson, Zeneng Cheng, Qiuhe Ji,[...]. Hepatology 2015
50
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
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
50
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
Olga S Koutsopoulos, Christine Kretz, Claudia M Weller, Aurelien Roux, Halina Mojzisova, Johann Böhm, Catherine Koch, Anne Toussaint, Emilie Heckel, Daphne Stemkens,[...]. Eur J Hum Genet 2013
Olga S Koutsopoulos, Christine Kretz, Claudia M Weller, Aurelien Roux, Halina Mojzisova, Johann Böhm, Catherine Koch, Anne Toussaint, Emilie Heckel, Daphne Stemkens,[...]. Eur J Hum Genet 2013
50
Regenerating optic pathways from the eye to the brain.
Bireswar Laha, Ben K Stafford, Andrew D Huberman. Science 2017
Bireswar Laha, Ben K Stafford, Andrew D Huberman. Science 2017
50
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
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
50
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.
Hsiuchen Chen, Scott A Detmer, Andrew J Ewald, Erik E Griffin, Scott E Fraser, David C Chan. J Cell Biol 2003
Hsiuchen Chen, Scott A Detmer, Andrew J Ewald, Erik E Griffin, Scott E Fraser, David C Chan. J Cell Biol 2003
50
WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.
Sonya G Fonseca, Mariko Fukuma, Kathryn L Lipson, Linh X Nguyen, Jenny R Allen, Yoshitomo Oka, Fumihiko Urano. J Biol Chem 2005
Sonya G Fonseca, Mariko Fukuma, Kathryn L Lipson, Linh X Nguyen, Jenny R Allen, Yoshitomo Oka, Fumihiko Urano. J Biol Chem 2005
50
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
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
50
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D'Annunzio,[...]. BMC Med Genet 2014
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D'Annunzio,[...]. BMC Med Genet 2014
50
OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.
Kathryn E White, Vanessa J Davies, Vanessa E Hogan, Malgorzata J Piechota, Philip P Nichols, Douglas M Turnbull, Marcela Votruba. Invest Ophthalmol Vis Sci 2009
Kathryn E White, Vanessa J Davies, Vanessa E Hogan, Malgorzata J Piechota, Philip P Nichols, Douglas M Turnbull, Marcela Votruba. Invest Ophthalmol Vis Sci 2009
50
Cofilin1-dependent actin dynamics control DRP1-mediated mitochondrial fission.
Katharina Rehklau, Lena Hoffmann, Christine B Gurniak, Martin Ott, Walter Witke, Luca Scorrano, Carsten Culmsee, Marco B Rust. Cell Death Dis 2017
Katharina Rehklau, Lena Hoffmann, Christine B Gurniak, Martin Ott, Walter Witke, Luca Scorrano, Carsten Culmsee, Marco B Rust. Cell Death Dis 2017
50
A role for myosin II in mammalian mitochondrial fission.
Farida Korobova, Timothy J Gauvin, Henry N Higgs. Curr Biol 2014
Farida Korobova, Timothy J Gauvin, Henry N Higgs. Curr Biol 2014
50
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium.
Anna Ghelli, Claudia Zanna, Anna Maria Porcelli, Anthony H V Schapira, Andrea Martinuzzi, Valerio Carelli, Michela Rugolo. J Biol Chem 2003
Anna Ghelli, Claudia Zanna, Anna Maria Porcelli, Anthony H V Schapira, Andrea Martinuzzi, Valerio Carelli, Michela Rugolo. J Biol Chem 2003
50
Dynamics of nucleoid structure regulated by mitochondrial fission contributes to cristae reformation and release of cytochrome c.
Reiko Ban-Ishihara, Takaya Ishihara, Narie Sasaki, Katsuyoshi Mihara, Naotada Ishihara. Proc Natl Acad Sci U S A 2013
Reiko Ban-Ishihara, Takaya Ishihara, Narie Sasaki, Katsuyoshi Mihara, Naotada Ishihara. Proc Natl Acad Sci U S A 2013
50
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Tessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, Ghazaleh Hajmousa, Hailiang Mei, Marina Dusl, Eleonora Aronica, Peter Barth, Frank Baas. Brain 2017
Tessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, Ghazaleh Hajmousa, Hailiang Mei, Marina Dusl, Eleonora Aronica, Peter Barth, Frank Baas. Brain 2017
50
An ER-mitochondria tethering complex revealed by a synthetic biology screen.
Benoît Kornmann, Erin Currie, Sean R Collins, Maya Schuldiner, Jodi Nunnari, Jonathan S Weissman, Peter Walter. Science 2009
Benoît Kornmann, Erin Currie, Sean R Collins, Maya Schuldiner, Jodi Nunnari, Jonathan S Weissman, Peter Walter. Science 2009
50
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke. J Med Genet 2019
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke. J Med Genet 2019
50
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
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
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.