A citation-based method for searching scientific literature

Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli, Tiziano Verri. Hum Mutat 2013
Times Cited: 22







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



Times Cited
  Times     Co-cited
Similarity


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
119
81

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
106
72

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
290
72

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
68


Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S McPherson, Bernard Brais, Kalle Gehring. J Biol Chem 2011
44
68

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
55
68

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
84
54

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
96
54

The neurodegenerative-disease-related protein sacsin is a molecular chaperone.
John F Anderson, Efrain Siller, José M Barral. J Mol Biol 2011
45
45

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
28
45

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
170
40

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
39
36

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
31

HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins.
Marcin Grynberg, Heidi Erlandsen, Adam Godzik. Trends Biochem Sci 2003
43
27


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
27

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
31
27

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
19
31

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
57
22

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
Paul L Greer, Rikinari Hanayama, Brenda L Bloodgood, Alan R Mardinly, David M Lipton, Steven W Flavell, Tae-Kyung Kim, Eric C Griffith, Zachary Waldon, Rene Maehr,[...]. Cell 2010
425
22

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
47
22

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama. Neuropathology 2006
44
22

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
22

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
Lubov Blumkin, Teisha Bradshaw, Marina Michelson, Tal Kopler, Dvir Dahari, Tally Lerman-Sagie, Dorit Lev, J Paul Chapple, Esther Leshinsky-Silver. Eur J Paediatr Neurol 2015
10
50

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
27
22

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
16
31

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
46
22

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
22

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.
Federica Morani, Stefano Doccini, Roberto Sirica, Marta Paterno, Francesco Pezzini, Ivana Ricca, Alessandro Simonati, Massimo Delledonne, Filippo Maria Santorelli. Sci Rep 2019
17
29

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
18

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
26

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
31
18

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
24
18

Sacs R272C missense homozygous mice develop an ataxia phenotype.
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R Anne McKinney, Alanna J Watt, Bernard Brais. Mol Brain 2019
15
26

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
57

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
Zhao Chen, Jun-Ling Wang, Bei-Sha Tang, Zhan-Fang Sun, Yu-Ting Shi, Lu Shen, Li-Fang Lei, Xiao-Ming Wei, Jing-Jing Xiao, Zheng-Mao Hu,[...]. Neurobiol Aging 2013
17
17

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
Angela Pyle, Helen Griffin, Patrick Yu-Wai-Man, Jennifer Duff, Gail Eglon, Stuart Pickering-Brown, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery. Arch Neurol 2012
20
15

Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Ana Vela, Jose Manuel Larrosa, Vicente Polo, Marcia L Marques, Jorge Alfaro. Invest Ophthalmol Vis Sci 2013
14
21

A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
40
13

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

Novel compound heterozygous mutations in sacsin-related ataxia.
Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda. J Neurol Sci 2005
15
20

Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing.
Vivek Anantharaman, Kira S Makarova, A Maxwell Burroughs, Eugene V Koonin, L Aravind. Biol Direct 2013
153
13


High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.
Xinlu Li, Marie Ménade, Guennadi Kozlov, Zheping Hu, Zheng Dai, Peter S McPherson, Bernard Brais, Kalle Gehring. PLoS One 2015
7
42

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
13

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

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Vicente Polo, Antonio Ferreras, Jose M Larrosa. Br J Ophthalmol 2013
14
21

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
13

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
30


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.