A citation-based method for searching scientific literature

Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen, Christel Thauvin-Robinet, Christophe Verny, Dan Milea, Gaëtan Lesca, Michel Koenig, Diana Rodriguez, Nada Houcinat, Julien Van-Gils, Christelle M Durand, Agnès Guichet, Magalie Barth, Dominique Bonneau, Philippe Convers, Elisabeth Maillart, Lucie Guyant-Marechal, Didier Hannequin, Guillaume Fromager, Alexandra Afenjar, Sandra Chantot-Bastaraud, Stéphanie Valence, Perrine Charles, Patrick Berquin, Caroline Rooryck, Julie Bouron, Alexis Brice, Didier Lacombe, Rodrigue Rossignol, Giovanni Stevanin, Giovanni Benard, Lydie Burglen, Alexandra Durr, Cyril Goizet, Isabelle Coupry. Ann Neurol 2015
Times Cited: 45







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



Times Cited
  Times     Co-cited
Similarity


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
105
55

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
288
53

Mutations in SACS cause atypical and late-onset forms of ARSACS.
J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, E Schmedding, P Santens, V Milic Rasic, P Van Damme,[...]. Neurology 2010
82
46

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
94
42

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
56
35

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
117
31

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Roxanne Larivière, Rébecca Gaudet, Benoit J Gentil, Martine Girard, Talita Cristiane Conte, Sandra Minotti, Kim Leclerc-Desaulniers, Kalle Gehring, R Anne McKinney, Eric A Shoubridge,[...]. Hum Mol Genet 2015
53
28

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
169
26

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, Natalia V Prodromou, Tom R Webb, Jean-Marc Gallo, Michael E Cheetham, William S Nicoll, Gregory L Blatch, J Paul Chapple. Hum Mol Genet 2009
104
26

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff. PLoS One 2013
17
58

The autosomal recessive cerebellar ataxias.
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
218
22

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu. Mov Disord 2013
36
27

Diversity of ARSACS mutations in French-Canadians.
I Thiffault, M J Dicaire, M Tetreault, K N Huang, J Demers-Lamarche, G Bernard, A Duquette, R Larivière, K Gehring, A Montpetit,[...]. Can J Neurol Sci 2013
38
26

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl. J Neurol Sci 2016
15
66

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas J Wood, Fion Bremner,[...]. Brain 2018
29
34

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
Flávio Moura Rezende Filho, Michael H Parkinson, José Luiz Pedroso, Roy Poh, Ingrid Faber, Charles Marques Lourenço, Wilson Marques Júnior, Marcondes Cavalcante França Junior, Fernando Kok, Juliana M Ferraz Sallum,[...]. Parkinsonism Relat Disord 2019
17
58

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
E Prodi, M Grisoli, M Panzeri, L Minati, F Fattori, A Erbetta, G Uziel, S D'Arrigo, A Tessa, C Ciano,[...]. Eur J Neurol 2013
46
20

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Chiara Criscuolo, C Procaccini, M C Meschini, A Cianflone, R Carbone, S Doccini, D Devos, C Nesti, I Vuillaume, M Pellegrino,[...]. J Neurol 2015
28
28

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
L Liu, X B Li, X H Zi, L Shen, Zh M Hu, Sh X Huang, D L Yu, H B Li, K Xia, B S Tang,[...]. J Neurol Sci 2016
15
53

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
17

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
E Gregianin, G Vazza, E Scaramel, F Boaretto, A Vettori, E Leonardi, S C E Tosatto, R Manara, E Pegoraro, M L Mostacciuolo. Eur J Neurol 2013
22
36

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
Ghada El Euch-Fayache, Irfan Lalani, Rim Amouri, Ilhem Turki, Karim Ouahchi, Wu-Yen Hung, Samir Belal, Teepu Siddique, Faycal Hentati. Arch Neurol 2003
75
17

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek. Neurol Neurochir Pol 2017
10
80

Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Jeremy Desserre, David Devos, Bruno Georges Sautière, Philippe Debruyne, Filippo M Santorelli, Isabelle Vuillaume, Sabine Defoort-Dhellemmes. Cerebellum 2011
21
33

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.
M-H Martin, J-P Bouchard, M Sylvain, O St-Onge, S Truchon. AJNR Am J Neuroradiol 2007
56
15

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
169
15

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
98
15

Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura, Masatoyo Nishizawa. Mov Disord 2005
34
20

New findings in the ataxia of Charlevoix-Saguenay.
José Gazulla, Isabel Benavente, Ana Carmen Vela, Miguel Angel Marín, Luis Emilio Pablo, Alessandra Tessa, María Rosario Barrena, Filippo Maria Santorelli, Claudia Nesti, Pedro Modrego,[...]. J Neurol 2012
32
21

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama. Neuropathology 2006
43
16

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.
Haruo Shimazaki, Yoshihisa Takiyama, Junko Honda, Kumi Sakoe, Michito Namekawa, Jun Tsugawa, Yoshio Tsuboi, Chieko Suzuki, Masayuki Baba, Imaharu Nakano. J Neuroimaging 2013
15
46

Cerebellum and neuropsychiatric disorders: insights from ARSACS.
Andrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, Alessandra Rufa, Eugenia Storti, Giovanni Bonelli, Christian Marcotulli, Filippo Maria Santorelli, Luca Leonardi, Carlo Casali,[...]. Neurol Sci 2014
18
38

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
Andrea M Richter, Riza Koksal Ozgul, Virginie C Poisson, Haluk Topaloglu. Neurogenetics 2004
46
15

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
M De Braekeleer, F Giasson, J Mathieu, M Roy, J P Bouchard, K Morgan. Genet Epidemiol 1993
54
15

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen, Bjarne Udd. Clin Case Rep 2016
12
58

A novel mutation in SACS gene in a family from southern Italy.
C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele,[...]. Neurology 2004
58
13

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
James C Stevens, Sinéad M Murphy, Indran Davagnanam, Rahul Phadke, Glenn Anderson, Suran Nethisinghe, Fion Bremner, Paola Giunti, Mary M Reilly. J Neurol Neurosurg Psychiatry 2013
15
40

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
K K Oguz, G Haliloglu, C Temucin, R Gocmen, A C Has, K Doerschner, A Dolgun, M Alikasifoglu. AJNR Am J Neuroradiol 2013
12
50

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
E M Vingolo, R Di Fabio, S Salvatore, G Grieco, E Bertini, V Leuzzi, C Nesti, A Filla, A Tessa, F Pierelli,[...]. Eur J Neurol 2011
23
26

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
Chiara Criscuolo, Francesco Saccà, Giuseppe De Michele, Pietro Mancini, Onofre Combarros, Jon Infante, Antonio Garcia, Sandro Banfi, Alessandro Filla, José Berciano. Mov Disord 2005
41
14

A novel SACS gene mutation in a Tunisian family.
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
12
50

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
G S Grieco, A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli,[...]. Neurology 2004
56
13


Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano. Neurology 2006
39
15

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Alessandra Terracciano, Carlo Casali, Gaetano S Grieco, Daniela Orteschi, Silvia Di Giandomenico, Laura Seminara, Roberto Di Fabio, Rosalba Carrozzo, Alessandro Simonati, Giovanni Stevanin,[...]. Neurogenetics 2009
19
31

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
Raja A H Kuchay, Yaser Rafiq Mir, Xue Zeng, Asima Hassan, Javed Musarrat, Iqbal Parwez, Christoph Kernstock, Andreas Traschütz, Matthis Synofzik. Cerebellum 2019
14
42

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
93
11

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A Rouleau, Oksana Suchowersky, Victoria Siu,[...]. Hum Mutat 2014
74
11

Sacsinopathies: sacsin-related ataxia.
Yoshihisa Takiyama. Cerebellum 2007
41
12

Identification of a SACS gene missense mutation in ARSACS.
T Ogawa, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa. Neurology 2004
55
11


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.