A citation-based method for searching scientific literature

S L Rydning, I M Wedding, J Koht, M Chawla, A-M Øye, Y Sheng, M D Vigeland, K K Selmer, C M E Tallaksen. Eur J Neurol 2016
Times Cited: 10







List of co-cited articles
45 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
110
60

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
67
60

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
77
60

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
36
50

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
68
50

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
31
50

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
103
50

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
600
40

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
65
40

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
32
40


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
124
30

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
95
30

Hereditary ataxias: overview.
Suman Jayadev, Thomas D Bird. Genet Med 2013
123
20

Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.
Lasse Pihlstrøm, Aina Rengmark, Kari Anne Bjørnarå, Mathias Toft. Ann Hum Genet 2014
15
20

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
20

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
20

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
189
20

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen,[...]. Ann Neurol 2015
40
20



EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
T Gasser, J Finsterer, J Baets, C Van Broeckhoven, S Di Donato, B Fontaine, P De Jonghe, A Lossos, T Lynch, C Mariotti,[...]. Eur J Neurol 2010
34
20

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg. Eur J Hum Genet 2016
52
20

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
36
20

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
20


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
53
20

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
99
20

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Hanna Orlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian, Per Söderberg, Magnus Påhlman, Niklas Darin, Mårten Kyllerman, Eva Holmberg,[...]. Am J Med Genet B Neuropsychiatr Genet 2009
33
20

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
20


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
42
20

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci,[...]. Nat Genet 2015
152
20

Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Hiroyuki Yahikozawa, Kunihiro Yoshida, Shunichi Sato, Norinao Hanyu, Hiroshi Doi, Satoko Miyatake, Naomichi Matsumoto. Hum Genome Var 2015
4
50


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
42
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
210
20

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
66
20

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
Daniele Orsucci, Loredana Petrucci, Elena Caldarazzo Ienco, Lucia Chico, Paolo Simi, Antonella Fogli, Fulvia Baldinotti, Costanza Simoncini, Annalisa LoGerfo, Cecilia Carlesi,[...]. Clin Neurol Neurosurg 2014
14
20

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
100
20

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute. J Neurol Sci 2017
26
20

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
Yi Yang, Lei Zhang, David R Lynch, Thomas Lukas, Kreshnik Ahmeti, Patrick M A Sleiman, Eanna Ryan, Kimberly A Schadt, Jordan H Newman, Han-Xiang Deng,[...]. Neurol Genet 2016
10
20

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
12
20

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
61
20

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
7
28

Global changes to the ubiquitin system in Huntington's disease.
Eric J Bennett, Thomas A Shaler, Ben Woodman, Kwon-Yul Ryu, Tatiana S Zaitseva, Christopher H Becker, Gillian P Bates, Howard Schulman, Ron R Kopito. Nature 2007
384
10

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
C Delettre, G Lenaers, J M Griffoin, N Gigarel, C Lorenzo, P Belenguer, L Pelloquin, J Grosgeorge, C Turc-Carel, E Perret,[...]. Nat Genet 2000
10

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
10

Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients.
P Wintermeyer, R Krüger, W Kuhn, T Müller, D Woitalla, D Berg, G Becker, E Leroy, M Polymeropoulos, K Berger,[...]. Neuroreport 2000
105
10

Effects of UCH-L1 on alpha-synuclein over-expression mouse model of Parkinson's disease.
Toru Yasuda, Tomoko Nihira, Yong-Ri Ren, Xu-Qing Cao, Keiichiro Wada, Rieko Setsuie, Tomohiro Kabuta, Keiji Wada, Nobutaka Hattori, Yoshikuni Mizuno,[...]. J Neurochem 2009
42
10


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.