A citation-based method for searching scientific literature

Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
Times Cited: 38







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



Times Cited
  Times     Co-cited
Similarity


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
60

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
F Brugman, H Scheffer, J H J Wokke, W M Nillesen, M de Visser, E Aronica, J H Veldink, L H van den Berg. Neurology 2008
67
50

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
44

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
C J McDermott, R K Dayaratne, J Tomkins, M E Lusher, J C Lindsey, M A Johnson, G Casari, D M Turnbull, K Bushby, P J Shaw. Neurology 2001
62
42

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, A I Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante,[...]. Clin Genet 2013
73
42

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D'Angelo, Giovanni Meola, Andrea Martinuzzi,[...]. Hum Mutat 2008
69
39

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
Luigia Atorino, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, Giorgio Casari. J Cell Biol 2003
193
39

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
N Elleuch, C Depienne, A Benomar, A M Ouvrard Hernandez, X Ferrer, B Fontaine, D Grid, C M E Tallaksen, R Zemmouri, G Stevanin,[...]. Neurology 2006
82
36

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
36

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.
Mirko Koppen, Metodi D Metodiev, Giorgio Casari, Elena I Rugarli, Thomas Langer. Mol Cell Biol 2007
138
34

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
34

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
82
34

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
26


Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
N A Schlipf, R Schüle, S Klimpe, K N Karle, M Synofzik, J Schicks, O Riess, Ludger Schöls, P Bauer. Clin Genet 2011
33
27

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
23

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Charalampos Tzoulis, Paola S Denora, Filippo M Santorelli, Laurence A Bindoff. J Neurol 2008
18
44

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
355
21

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Philip A Wilkinson, Andrew H Crosby, Christopher Turner, Lloyd J Bradley, Lionel Ginsberg, Nicholas W Wood, Anthony H Schapira, Thomas T Warner. Brain 2004
67
21

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
Fatima Ferreirinha, Angelo Quattrini, Marinella Pirozzi, Valentina Valsecchi, Giorgia Dina, Vania Broccoli, Alberto Auricchio, Fiorella Piemonte, Giulia Tozzi, Laura Gaeta,[...]. J Clin Invest 2004
210
21

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
21

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Richard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, Alice M George, Rod A Lea, David Eccles, Stuart Mossman, Thomas Bird, Koen L van Gassen, Erik-Jan Kamsteeg,[...]. J Neurol 2013
33
24

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Tobias Warnecke, Thomas Duning, Anja Schirmacher, Siawoosh Mohammadi, Wolfram Schwindt, Hubertus Lohmann, Rainer Dziewas, Michael Deppe, E Bernd Ringelstein, Peter Young. Mov Disord 2010
20
35


The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
157
15

An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases.
Steffen Augustin, Florian Gerdes, Sukyeong Lee, Francis T F Tsai, Thomas Langer, Takashi Tatsuta. Mol Cell 2009
74
15

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
15

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza. Am J Hum Genet 1998
101
15

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
T Warnecke, T Duning, A Schwan, H Lohmann, J T Epplen, P Young. Neurology 2007
43
15

Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.
Tobias Karlberg, Susanne van den Berg, Martin Hammarström, Johanna Sagemark, Ida Johansson, Lovisa Holmberg-Schiavone, Herwig Schüler. PLoS One 2009
24
25

SPG7 mutations are a common cause of undiagnosed ataxia.
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
66
15

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
13

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
Paola Martinelli, Veronica La Mattina, Andrea Bernacchia, Raffaella Magnoni, Federica Cerri, Gregory Cox, Angelo Quattrini, Giorgio Casari, Elena I Rugarli. Hum Mol Genet 2009
42
13

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
13

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
13

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
151
10


Emerging roles of mitochondrial proteases in neurodegeneration.
Paola Martinelli, Elena I Rugarli. Biochim Biophys Acta 2010
75
10

OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria.
Stéphane Duvezin-Caubet, Mirko Koppen, Johannes Wagener, Michael Zick, Lars Israel, Andrea Bernacchia, Ravi Jagasia, Elena I Rugarli, Axel Imhof, Walter Neupert,[...]. Mol Biol Cell 2007
145
10

Regulation of the mitochondrial dynamin-like protein Opa1 by proteolytic cleavage.
Lorena Griparic, Takayuki Kanazawa, Alexander M van der Bliek. J Cell Biol 2007
333
10

OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.
Zhiyin Song, Hsiuchen Chen, Maja Fiket, Christiane Alexander, David C Chan. J Cell Biol 2007
539
10


Mitochondrial AAA proteases--towards a molecular understanding of membrane-bound proteolytic machines.
Florian Gerdes, Takashi Tatsuta, Thomas Langer. Biochim Biophys Acta 2012
87
10



Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Kishore R Kumar, Nicholas F Blair, Himesha Vandebona, Christina Liang, Karl Ng, David M Sharpe, Anne Grünewald, Uta Gölnitz, Viatcheslav Saviouk, Arndt Rolfs,[...]. J Neurol 2013
38
10

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Ludger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup. Front Mol Neurosci 2016
31
12

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
A Arnoldi, C Crimella, E Tenderini, A Martinuzzi, M G D'Angelo, O Musumeci, A Toscano, M Scarlato, M Fantin, N Bresolin,[...]. Clin Genet 2012
28
10

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Cyril Goizet, Amir Boukhris, Alexandra Durr, Christian Beetz, Jeremy Truchetto, Christelle Tesson, Maria Tsaousidou, Sylvie Forlani, Lucie Guyant-Maréchal, Bertrand Fontaine,[...]. Brain 2009
78
7

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.
Andreas Gnirke, Alexandre Melnikov, Jared Maguire, Peter Rogov, Emily M LeProust, William Brockman, Timothy Fennell, Georgia Giannoukos, Sheila Fisher, Carsten Russ,[...]. Nat Biotechnol 2009
929
7


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.