A citation-based method for searching scientific literature

C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele, A Filla. Neurology 2004
Times Cited: 58







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



Times Cited
  Times     Co-cited
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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
86

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
75

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
66

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
63

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
169
56

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
69

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
68

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
41

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
67

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
40

A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
39
53

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
31

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
31

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
43

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
30
53

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
61

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
27

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
24

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
22

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui,[...]. Brain 2004
137
22

Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
739
20

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls,[...]. Nat Genet 2004
344
20


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
45

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama. Neuropathology 2006
43
25

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
19

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
18

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
K Savitsky, A Bar-Shira, S Gilad, G Rotman, Y Ziv, L Vanagaite, D A Tagle, S Smith, T Uziel, S Sfez,[...]. Science 1995
17

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
K Ouahchi, M Arita, H Kayden, F Hentati, M Ben Hamida, R Sokol, H Arai, K Inoue, J L Mandel, M Koenig. Nat Genet 1995
425
17

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
66

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
43

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
H Date, O Onodera, H Tanaka, K Iwabuchi, K Uekawa, S Igarashi, R Koike, T Hiroi, T Yuasa, Y Awaya,[...]. Nat Genet 2001
282
15

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
75

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
47

[Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case].
I Pascual-Castroviejo, S I Pascual-Pascual, J Viaño, V Martínez. Rev Neurol 2000
9
88

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Hiroshi Takashima, Cornelius F Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A M Salih, Dawna Armstrong, Yuxin Mao, Florante A Quiocho, Benjamin B Roa, Masanori Nakagawa,[...]. Nat Genet 2002
378
13

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
G S Stewart, R S Maser, T Stankovic, D A Bressan, M I Kaplan, N G Jaspers, A Raams, P J Byrd, J H Petrini, A M Taylor. Cell 1999
779
13

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
M C Moreira, C Barbot, N Tachi, N Kozuka, E Uchida, T Gibson, P Mendonça, M Costa, J Barros, T Yanagisawa,[...]. Nat Genet 2001
323
13

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Antoine Duquette, Katel Roddier, Julia McNabb-Baltar, Isabelle Gosselin, Anik St-Denis, Marie-Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu,[...]. Ann Neurol 2005
79
13

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay,[...]. Brain 2003
157
13

Sacsinopathies: sacsin-related ataxia.
Yoshihisa Takiyama. Cerebellum 2007
41
19

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
66


[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
53

ARSACS goes global.
Christopher M Gomez. Neurology 2004
27
25

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N Spelbrink, Tuula Lönnqvist, Leena Peltonen. Hum Mol Genet 2005
143
12

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Kalimo, Anders Paetau,[...]. Nat Genet 2005
154
12

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
70

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
François Gros-Louis, Nicolas Dupré, Patrick Dion, Michael A Fox, Sandra Laurent, Steve Verreault, Joshua R Sanes, Jean-Pierre Bouchard, Guy A Rouleau. Nat Genet 2007
222
12

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
19


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.