A citation-based method for searching scientific literature

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
Times Cited: 67






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



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  Times     Co-cited
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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
36
53

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
31
46

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
30
44

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
26
38

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
23
37

Classification of the hereditary ataxias and paraplegias.
A E Harding. Lancet 1983
721
21
31

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
20
29

Functional evaluation of paraplegin mutations by a yeast complementation assay.
Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
38
19
50

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
19
28

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
18
41

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
18
26

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
355
17
25

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
17
25

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
16
23

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
16
23

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
14
20

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
14
20

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
13
19

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P H Kremer, Suzanna G M Frints, Wendy A G van Zelst-Stams, Paula Byrne, Susanne Otto,[...]. Brain 2008
129
12
17

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
12
66

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
226
11
16

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
11
16

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
11
16

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
11
33

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
10
14

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez,[...]. Am J Hum Genet 2008
139
10
14

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
344
10
14

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
295
10
14

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
10
15

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Christian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A Reed, Ines Dierick, Nathalie Verpoorten,[...]. Nat Genet 2004
272
9
13

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
C Beetz, A O H Nygren, J Schickel, M Auer-Grumbach, K Bürk, G Heide, J Kassubek, S Klimpe, T Klopstock, F Kreuz,[...]. Neurology 2006
107
9
13

Hereditary spastic paraplegias: an update.
Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2007
151
9
13

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Alexandra Dürr, Agnès Camuzat, Emilie Colin, Chantal Tallaksen, Didier Hannequin, Paula Coutinho, Bertrand Fontaine, Annick Rossi, Roger Gil, Christophe Rousselle,[...]. Arch Neurol 2004
80
9
13

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, A Durr. J Med Genet 2006
70
9
13

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
9
13

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
9
45

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
M Namekawa, P Ribai, I Nelson, S Forlani, F Fellmann, C Goizet, C Depienne, G Stevanin, M Ruberg, A Dürr,[...]. Neurology 2006
82
9
13

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, Véronique Paquis, Christel Depienne, Alexandra Durr,[...]. Hum Mutat 2009
92
9
13

Neuropathy target esterase gene mutations cause motor neuron disease.
Shirley Rainier, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, Rudy J Richardson, James W Albers, Nori Matsunami,[...]. Am J Hum Genet 2008
158
9
13

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
9
13

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Paul N Valdmanis, Inge A Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A Dion, Pierre Drapeau,[...]. Am J Hum Genet 2007
130
8
11

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A Nance, Perry C Gaskell, Jeffery M Vance, Allison E Ashley-Koch, Margaret A Pericak-Vance. Am J Hum Genet 2006
163
8
11

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
466
8
11

SPG10 is a rare cause of spastic paraplegia in European families.
R Schüle, B P H Kremer, J Kassubek, M Auer-Grumbach, V Kostic, T Klopstock, S Klimpe, S Otto, S Boesch, B P van de Warrenburg,[...]. J Neurol Neurosurg Psychiatry 2008
36
8
22

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Maria K Tsaousidou, Karim Ouahchi, Tom T Warner, Yi Yang, Michael A Simpson, Nigel G Laing, Philip A Wilkinson, Ricardo E Madrid, Heema Patel, Faycal Hentati,[...]. Am J Hum Genet 2008
121
8
11

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
128
8
11

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
N Fonknechten, D Mavel, P Byrne, C S Davoine, C Cruaud, D Bönsch, D Samson, P Coutinho, M Hutchinson, P McMonagle,[...]. Hum Mol Genet 2000
224
8
11

Hereditary spastic paraplegias: membrane traffic and the motor pathway.
Craig Blackstone, Cahir J O'Kane, Evan Reid. Nat Rev Neurosci 2011
207
8
11

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
Anas M Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S Alkuraya. Neurogenetics 2011
50
8
16

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
8
21


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.

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