A citation-based method for searching scientific literature

Christopher M Gomez. Neurology 2004
Times Cited: 27







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



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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
291
85

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
173
66

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
99
40

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
37

A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
40
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
33

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
29

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
25

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
25

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Yoshihisa Takiyama. Neuropathology 2006
44
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
25

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
58
25

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
22

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
22

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
22

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
22

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
22

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
18

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
33

Sacsinopathies: sacsin-related ataxia.
Yoshihisa Takiyama. Cerebellum 2007
41
18

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
18

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
18

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
106
18

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination.
Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon. J Neurol Sci 2017
13
38

Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
14

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
107
14

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
97
14

Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Cynthia Gagnon, Isabelle Lessard, Bernard Brais, Isabelle Côté, Caroline Lavoie, Matthis Synofzik, Jean Mathieu. Arch Phys Med Rehabil 2018
12
33

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
56
14

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.
Isabelle Lessard, Bernard Brais, Isabelle Côté, Caroline Lavoie, Matthis Synofzik, Jean Mathieu, Cynthia Gagnon. J Neurol Sci 2018
12
33

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu. Mov Disord 2013
36
14

[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
33

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
12

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
380
11

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
11


Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases.
Salvatore Scommegna, Daniela Galeazzi, Simonetta Picone, Edoardo Farinelli, Rocco Agostino, Alessandro Bozzao, Brunetto Boscherini, Stefano Cianfarani. Horm Res 2004
24
12

Hereditary spastic paraplegia.
John K Fink. Curr Neurol Neurosci Rep 2006
197
11

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
25

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J Mercier, C Prévost, J C Engert, J P Bouchard, J Mathieu, A Richter. Genet Test 2001
8
37

Population history and its impact on medical genetics in Quebec.
A-M Laberge, J Michaud, A Richter, E Lemyre, M Lambert, B Brais, G A Mitchell. Clin Genet 2005
139
11

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
11

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Philip Van Damme, Philippe Demaerel, Werner Spileers, Wim Robberecht. Neurology 2009
12
25

Autosomal recessive ataxias: 20 types, and counting.
Emília Katiane Embiruçu, Marcília Lima Martyn, David Schlesinger, Fernando Kok. Arq Neuropsiquiatr 2009
29
11

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
11

Validation of a new lower-extremity motor coordination test.
Johanne Desrosiers, Annie Rochette, Hélène Corriveau. Arch Phys Med Rehabil 2005
40
11


From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu. Orphanet J Rare Dis 2018
14
21

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
7

HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins.
Marcin Grynberg, Heidi Erlandsen, Adam Godzik. Trends Biochem Sci 2003
44
7


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.