A citation-based method for searching scientific literature

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
Times Cited: 27






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



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  Times     Co-cited
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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
22
81

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
20
74

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
170
18
66

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
17
62

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
17
62

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
16
59

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
16
59

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
16
59

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
55

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.
Haruo Shimazaki, Kumi Sakoe, Kenji Niijima, Imaharu Nakano, Yoshihisa Takiyama. J Neurol Sci 2007
31
14
51

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
14
51

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
48

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
48

A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
40
12
44

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
12
44

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
10
37

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
9
33

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
N Mrissa, S Belal, C B Hamida, R Amouri, I Turki, R Mrissa, M B Hamida, F Hentati. Neurology 2000
54
8
29

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Brent L Fogel, Susan Perlman. Lancet Neurol 2007
182
8
29

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama. Neuropathology 2006
44
8
29

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
M Anheim, D Chaigne, M Fleury, F M Santorelli, J De Sèze, A Durr, A Brice, M Koenig, C Tranchant. Rev Neurol (Paris) 2008
15
8
53

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
Antonio García, Chiara Criscuolo, Giuseppe de Michele, José Berciano. Muscle Nerve 2008
23
8
34

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
8
42

The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.
John F Anderson, Efrain Siller, Jose M Barral. J Mol Biol 2010
42
8
29

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
8
29

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
8
29

New mutation in the non-gigantic exon of SACS in Japanese siblings.
Yuhei Takado, Kenju Hara, Takayoshi Shimohata, Susumu Tokiguchi, Osamu Onodera, Masatoyo Nishizawa. Mov Disord 2007
12
7
58

A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
S Okawa, M Sugawara, S Watanabe, T Imota, I Toyoshima. J Neurol Neurosurg Psychiatry 2006
12
7
58

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
K Gücüyener, K Ozgül, C Paternotte, H Erdem, J F Prud'homme, M Ozgüç, H Topaloğlu. Neuropediatrics 2001
24
7
29

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus, Koenraad Devriendt. Eur J Hum Genet 2008
36
7
25

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
A Richter, J D Rioux, J P Bouchard, J Mercier, J Mathieu, B Ge, J Poirier, D Julien, G Gyapay, J Weissenbach,[...]. Am J Hum Genet 1999
60
7
25

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
7
25

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
7
25

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
7
25

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
7
41

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
6
40

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
M Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S Courtois, N Drouot,[...]. Neurogenetics 2010
111
6
22

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.
Laura Anesi, Paola de Gemmis, Massimo Pandolfo, Uros Hladnik. J Mol Neurosci 2011
14
6
42

A novel SACS gene mutation in a Tunisian family.
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
12
6
50

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
6
40

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
57
6
22

Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Yoichi Yamamoto, Masayuki Nakamori, Kuni Konaka, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Saburo Sakoda. J Neurol 2006
10
5
50

Autosomal recessive cerebellar ataxias.
Francesc Palau, Carmen Espinós. Orphanet J Rare Dis 2006
107
5
18

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
5
18

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
S Kamada, S Okawa, T Imota, M Sugawara, I Toyoshima. J Neurol 2008
8
5
62

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.
Yosr Bouhlal, Mourad Zouari, Mounir Kefi, Christiane Ben Hamida, Fayçal Hentati, Rim Amouri. J Neurogenet 2008
14
5
35

Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1979
40
5
18

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
5
18

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
33
5
18

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
5
100


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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