A citation-based method for searching scientific literature

Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R Anne McKinney, Alanna J Watt, Bernard Brais. Mol Brain 2019
Times Cited: 15







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



Times Cited
  Times     Co-cited
Similarity


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
66

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

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
Visou Ady, Brenda Toscano-Márquez, Moushumi Nath, Philip K Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R Anne McKinney,[...]. J Physiol 2018
22
53

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
46

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger,[...]. Hum Mol Genet 2017
27
46

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
40

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
40

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Benoit J Gentil, Gia-Thanh Lai, Marie Menade, Roxanne Larivière, Sandra Minotti, Kalle Gehring, J-Paul Chapple, Bernard Brais, Heather D Durham. FASEB J 2019
18
33

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
45
26

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
40

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
26

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli, Tiziano Verri. Hum Mutat 2013
21
26

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

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Teisha Y Bradshaw, Lisa E L Romano, Emma J Duncan, Suran Nethisinghe, Rosella Abeti, Gregory J Michael, Paola Giunti, Sascha Vermeer, J Paul Chapple. Hum Mol Genet 2016
30
26


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
20

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
20

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
25

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu. Mov Disord 2013
36
20

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
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

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
21

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Marie-Michèle Briand, Xavier Rodrigue, Isabelle Lessard, Jean Mathieu, Bernard Brais, Isabelle Côté, Cynthia Gagnon. J Neurol Sci 2019
12
25

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
56
20

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance.
Marie K Bosch, Yarimar Carrasquillo, Joseph L Ransdell, Ajay Kanakamedala, David M Ornitz, Jeanne M Nerbonne. J Neurosci 2015
41
20

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
Joy T Walter, Karina Alviña, Mary D Womack, Carolyn Chevez, Kamran Khodakhah. Nat Neurosci 2006
298
20

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6.
Sriram Jayabal, Hui Ho Vanessa Chang, Kathleen E Cullen, Alanna J Watt. Sci Rep 2016
51
20


Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1.
Raphael Hourez, Laurent Servais, David Orduz, David Gall, Isabelle Millard, Alban de Kerchove d'Exaerde, Guy Cheron, Harry T Orr, Massimo Pandolfo, Serge N Schiffmann. J Neurosci 2011
93
20

FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons.
Vikram G Shakkottai, Maolei Xiao, Lin Xu, Michael Wong, Jeanne M Nerbonne, David M Ornitz, Kelvin A Yamada. Neurobiol Dis 2009
81
20


Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3.
Vikram G Shakkottai, Maria do Carmo Costa, James M Dell'Orco, Ananthakrishnan Sankaranarayanan, Heike Wulff, Henry L Paulson. J Neurosci 2011
141
20

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
20

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
Federica Morani, Stefano Doccini, Giovanna Chiorino, Fabiana Fattori, Daniele Galatolo, Elisa Sciarrillo, Federica Gemignani, Stephan Züchner, Enrico Silvio Bertini, Filippo Maria Santorelli. Front Neurol 2021
7
42

Cerebellar modules operate at different frequencies.
Haibo Zhou, Zhanmin Lin, Kai Voges, Chiheng Ju, Zhenyu Gao, Laurens W J Bosman, Tom J H Ruigrok, Freek E Hoebeek, Chris I De Zeeuw, Martijn Schonewille. Elife 2014
167
20


Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.
Asthik Biswas, Mugil Varman, Sangeetha Yoganathan, Patel Khushboo Subhash, Sunithi Mani. Neurology 2018
8
25

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
13

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
13

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
13

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.
D L Guernsey, M-P Dubé, H Jiang, G Asselin, S Blowers, S Evans, M Ferguson, C Macgillivray, M Matsuoka, M Nightingale,[...]. J Neurol Sci 2010
15
13

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

Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Y Ouyang, K Segers, O Bouquiaux, F C Wang, N Janin, C Andris, H Shimazaki, K Sakoe, I Nakano, Y Takiyama. J Neurol Sci 2008
26
13

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
Vinodh Narayanan, Stephen G Rice, Shannon S Olfers, Kumaraswamy Sivakumar. J Child Neurol 2011
5
40

Retinal nerve fiber layer thickening in ARSACS carriers.
Michel van Lint, Kristien Hoornaert, Marcel P M Ten Tusscher. J Neurol Sci 2016
6
33

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
13

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
13

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.
Sean C Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R Haines. Front Neurol 2018
6
33

Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation.
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira. Neuromuscul Disord 2018
9
22

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
13


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.