Alessandra Terracciano, Carlo Casali, Gaetano S Grieco, Daniela Orteschi, Silvia Di Giandomenico, Laura Seminara, Roberto Di Fabio, Rosalba Carrozzo, Alessandro Simonati, Giovanni Stevanin, Marcella Zollino, Filippo M Santorelli. Neurogenetics 2009
Times Cited: 19
Times Cited: 19
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
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
84
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
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
57
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
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
57
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
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus, Koenraad Devriendt. Eur J Hum Genet 2008
57
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
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
52
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
G S Grieco, A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli,[...]. Neurology 2004
52
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
J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
47
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
47
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
47
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.
Hugh J McMillan, Melissa T Carter, Pierre J Jacob, Eoghan E Laffan, Michael D O'Connor, Kym M Boycott. Muscle Nerve 2009
Hugh J McMillan, Melissa T Carter, Pierre J Jacob, Eoghan E Laffan, Michael D O'Connor, Kym M Boycott. Muscle Nerve 2009
80
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
42
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
Ghada El Euch-Fayache, Irfan Lalani, Rim Amouri, Ilhem Turki, Karim Ouahchi, Wu-Yen Hung, Samir Belal, Teepu Siddique, Faycal Hentati. Arch Neurol 2003
42
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
42
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
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
42
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
Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano. Neurology 2006
36
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
36
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
36
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
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S McPherson, Bernard Brais, Kalle Gehring. J Biol Chem 2011
36
31
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
Laura Anesi, Paola de Gemmis, Massimo Pandolfo, Uros Hladnik. J Mol Neurosci 2011
42
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
31
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
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
31
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
31
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
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
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
Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen,[...]. Ann Neurol 2015
31
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
M De Braekeleer, F Giasson, J Mathieu, M Roy, J P Bouchard, K Morgan. Genet Epidemiol 1993
26
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
S Kamada, S Okawa, T Imota, M Sugawara, I Toyoshima. J Neurol 2008
62
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
Antonio García, Chiara Criscuolo, Giuseppe de Michele, José Berciano. Muscle Nerve 2008
26
A novel SACS gene mutation in a Tunisian family.
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
41
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
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
33
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
S Okawa, M Sugawara, S Watanabe, T Imota, I Toyoshima. J Neurol Neurosurg Psychiatry 2006
41
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
Jeremy Desserre, David Devos, Bruno Georges Sautière, Philippe Debruyne, Filippo M Santorelli, Isabelle Vuillaume, Sabine Defoort-Dhellemmes. Cerebellum 2011
26
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
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
26
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
Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura, Masatoyo Nishizawa. Mov Disord 2005
26
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
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff. PLoS One 2013
29
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
E Gregianin, G Vazza, E Scaramel, F Boaretto, A Vettori, E Leonardi, S C E Tosatto, R Manara, E Pegoraro, M L Mostacciuolo. Eur J Neurol 2013
E Gregianin, G Vazza, E Scaramel, F Boaretto, A Vettori, E Leonardi, S C E Tosatto, R Manara, E Pegoraro, M L Mostacciuolo. Eur J Neurol 2013
26
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
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
31
Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl. J Neurol Sci 2016
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl. J Neurol Sci 2016
31
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
Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek. Neurol Neurochir Pol 2017
50
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Philip Van Damme, Philippe Demaerel, Werner Spileers, Wim Robberecht. Neurology 2009
Philip Van Damme, Philippe Demaerel, Werner Spileers, Wim Robberecht. Neurology 2009
33
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Sascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, Daniëlle Bodmer, Ermanno A J Bosgoed, Frans P M Cremers, Berry H P Kremer, Nine V A M Knoers, Hans Scheffer. J Mol Diagn 2009
Sascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, Daniëlle Bodmer, Ermanno A J Bosgoed, Frans P M Cremers, Berry H P Kremer, Nine V A M Knoers, Hans Scheffer. J Mol Diagn 2009
66
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
21
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
Yosr Bouhlal, Mourad Zouari, Mounir Kefi, Christiane Ben Hamida, Fayçal Hentati, Rim Amouri. J Neurogenet 2008
28
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
A Terracciano, N C Foulds, A Ditchfield, D J Bunyan, J A Crolla, S Huang, F M Santorelli, S R Hammans. Neurology 2010
A Terracciano, N C Foulds, A Ditchfield, D J Bunyan, J A Crolla, S Huang, F M Santorelli, S R Hammans. Neurology 2010
57
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
21
The neurodegenerative-disease-related protein sacsin is a molecular chaperone.
John F Anderson, Efrain Siller, José M Barral. J Mol Biol 2011
John F Anderson, Efrain Siller, José M Barral. J Mol Biol 2011
21
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
José Luiz Pedroso, Pedro Braga-Neto, Agessandro Abrahão, René Leandro Magalhães Rivero, Carolina Abdalla, Nitamar Abdala, Orlando Graziani Povoas Barsottini. Arq Neuropsiquiatr 2011
José Luiz Pedroso, Pedro Braga-Neto, Agessandro Abrahão, René Leandro Magalhães Rivero, Carolina Abdalla, Nitamar Abdala, Orlando Graziani Povoas Barsottini. Arq Neuropsiquiatr 2011
33
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
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
21
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
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1979
21
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.