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, Berry Kremer. Neurogenetics 2008
Times Cited: 97
Times Cited: 97
Times Cited
Times Co-cited
Similarity
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
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Mutations in SACS cause atypical and late-onset forms of ARSACS.
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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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
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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
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The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
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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
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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
M-H Martin, J-P Bouchard, M Sylvain, O St-Onge, S Truchon. AJNR Am J Neuroradiol 2007
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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
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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
Andrea M Richter, Riza Koksal Ozgul, Virginie C Poisson, Haluk Topaloglu. Neurogenetics 2004
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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
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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
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44
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
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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
John F Anderson, Efrain Siller, Jose M Barral. J Mol Biol 2010
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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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
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Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
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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
C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele,[...]. Neurology 2004
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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
Chiara Criscuolo, Francesco Saccà, Giuseppe De Michele, Pietro Mancini, Onofre Combarros, Jon Infante, Antonio Garcia, Sandro Banfi, Alessandro Filla, José Berciano. Mov Disord 2005
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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
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Diversity of ARSACS mutations in French-Canadians.
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Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Brent L Fogel, Susan Perlman. Lancet Neurol 2007
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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
T Ogawa, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa. Neurology 2004
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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
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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
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The neurodegenerative-disease-related protein sacsin is a molecular chaperone.
John F Anderson, Efrain Siller, José M Barral. J Mol Biol 2011
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Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu. Mov Disord 2013
Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu. Mov Disord 2013
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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
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
14
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
Haruo Shimazaki, Kumi Sakoe, Kenji Niijima, Imaharu Nakano, Yoshihisa Takiyama. J Neurol Sci 2007
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The autosomal recessive cerebellar ataxias.
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
14
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
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
13
A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
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13
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.
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13
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Jeremy Desserre, David Devos, Bruno Georges Sautière, Philippe Debruyne, Filippo M Santorelli, Isabelle Vuillaume, Sabine Defoort-Dhellemmes. Cerebellum 2011
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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
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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
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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
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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
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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
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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
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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
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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11
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
N Mrissa, S Belal, C B Hamida, R Amouri, I Turki, R Mrissa, M B Hamida, F Hentati. Neurology 2000
20
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Patrick Yu-Wai-Man, Angela Pyle, Helen Griffin, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery. Br J Ophthalmol 2014
Patrick Yu-Wai-Man, Angela Pyle, Helen Griffin, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery. Br J Ophthalmol 2014
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[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
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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
Nicolas Dupré, François Gros-Louis, Nicolas Chrestian, Steve Verreault, Denis Brunet, Danielle de Verteuil, Bernard Brais, Jean-Pierre Bouchard, Guy A Rouleau. Ann Neurol 2007
Nicolas Dupré, François Gros-Louis, Nicolas Chrestian, Steve Verreault, Denis Brunet, Danielle de Verteuil, Bernard Brais, Jean-Pierre Bouchard, Guy A Rouleau. Ann Neurol 2007
18
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.