A citation-based method for searching scientific literature

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, Rita Horvath, Andrea Németh, Patrick F Chinnery. Neurology 2015
Times Cited: 66






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



Times Cited
  Times     Co-cited
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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
29
43

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
26
39

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
25
37

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
22
66

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
20
30

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
16
24

Classification of the hereditary ataxias and paraplegias.
A E Harding. Lancet 1983
721
15
22

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
14
42

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
13
19

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
11
16

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn,[...]. Orphanet J Rare Dis 2013
97
11
16

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
11
16

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
11756
11
16

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
11
16

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
10
15

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
10
15

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
10
16

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
10
15

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Matthis Synofzik, Rebecca Schüle. Mov Disord 2017
91
10
15

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
10
37

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

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
9
13

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
9
19

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
391
9
13

The autosomal recessive cerebellar ataxias.
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
209
8
12

Hereditary ataxias: overview.
Suman Jayadev, Thomas D Bird. Genet Med 2013
132
8
12

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
12

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
8
12

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B E Becker, Katarzyna D Bera, Morag E Shanks, Lorna Gregory, David Buck, M Zameel Cader,[...]. Brain 2013
116
8
12

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon,[...]. Brain 2015
91
8
12

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa,[...]. Brain 2016
65
8
12

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
7
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
7
10

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
7
16

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
7
10

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
7
23

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
J C Engert, P Bérubé, J Mercier, C Doré, P Lepage, B Ge, J P Bouchard, J Mathieu, S B Melançon, M Schalling,[...]. Nat Genet 2000
283
6
9

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Sascha Vermeer, Rowdy P P Meijer, Benjamin J Pijl, Janneke Timmermans, Johannes R M Cruysberg, Maaike M Bos, Helenius J Schelhaas, Bart P C van de Warrenburg, Nine V A M Knoers, Hans Scheffer,[...]. Neurogenetics 2008
89
6
9

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Martine Girard, Roxanne Larivière, David A Parfitt, Emily C Deane, Rebecca Gaudet, Nadya Nossova, Francois Blondeau, George Prenosil, Esmeralda G M Vermeulen, Michael R Duchen,[...]. Proc Natl Acad Sci U S A 2012
111
6
9

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
6
15

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
6
15

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
12867
6
9

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
277
6
9

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira,[...]. JAMA Neurol 2013
71
6
9

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
R Schüle, N Schlipf, M Synofzik, S Klebe, S Klimpe, U Hehr, B Winner, T Lindig, A Dotzer, O Riess,[...]. J Neurol Neurosurg Psychiatry 2009
54
6
11

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
355
6
9

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang,[...]. Brain 2017
85
6
9

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
6
40

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
6
9

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
111
6
9


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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