A citation-based method for searching scientific literature

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, Bart P van de Warrenburg. Brain 2012
Times Cited: 82







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



Times Cited
  Times     Co-cited
Similarity


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
42

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
39

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
36

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
37

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
32


SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau,[...]. Eur J Hum Genet 2016
33
60

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
23

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
28

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
29

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
24

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
48

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
17

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
34

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
355
14

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
27

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
14

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
13

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin. J Neurol Sci 2012
185
13



Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Channa A Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K Robinson, Nick J Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis,[...]. Neurol Genet 2018
27
40

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
14

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
30

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis. PLoS One 2014
40
25

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
12

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
12

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule, Bart P C van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G Hamer, Jonathan Baets, Mathieu Anheim,[...]. Neurology 2019
30
33

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, Raúl Barahona-Hernando, Germán Morís, María García-Barcina, Jon Infante, Miren Zulaica, Uxoa Fernández-Pelayo, Mikel Muñoz-Oreja,[...]. Mov Disord 2019
23
43

Reviewing the genetic causes of spastic-ataxias.
Susanne T de Bot, Michel A A P Willemsen, Sascha Vermeer, Hubertus P H Kremer, Bart P C van de Warrenburg. Neurology 2012
46
19

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Matthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B Haack, Adriana Rebelo, Didier Hannequin, Tim M Strom, Holger Prokisch, Christoph Kernstock,[...]. Brain 2014
133
10

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
99
10

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
10

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
9

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
9

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
9

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche,[...]. Am J Hum Genet 2012
127
9

The autosomal recessive cerebellar ataxias.
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
209
9

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
130
9

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
8

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

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
8

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
204
8

Early-onset optic neuropathy as initial clinical presentation in SPG7.
Christian Marcotulli, Luca Leonardi, Alessandra Tessa, Anna Maria De Negris, Riccardo Cornia, Alberto Pierallini, Shalom Haggiag, Francesco Pierelli, Filippo M Santorelli, Carlo Casali. J Neurol 2014
9
77

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
165
8

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Dietmar R Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik. Int J Mol Sci 2015
15
46

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
112
8

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.
José Luiz Pedroso, Thiago Cardoso Vale, Fabiana Lucas Bueno, Victor Hugo Rocha Marussi, Lázaro Luís Faria do Amaral, Marcondes C França, Orlando G Barsottini. Parkinsonism Relat Disord 2018
14
50

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
7

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
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.