A citation-based method for searching scientific literature

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
Times Cited: 99



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
Times Cited: 75




List of shared articles



Times cited

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

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
12

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

Is the ataxia of Charlevoix-Saguenay a developmental disease?
José Gazulla, Ana Carmen Vela, Miguel Angel Marín, Luis Pablo, Filippo Maria Santorelli, Isabel Benavente, Pedro Modrego, María Tintoré, José Berciano. Med Hypotheses 2011
15

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.
Sean C Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R Haines. Front Neurol 2018
6

[Autosomal recessive cerebellar ataxias].
M Anheim. Rev Neurol (Paris) 2011
4

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

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

[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

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
21

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Katharina Vill, Wolfgang Müller-Felber, Dieter Gläser, Marius Kuhn, Veronika Teusch, Herbert Schreiber, Joachim Weis, Jörg Klepper, Anja Schirmacher, Astrid Blaschek,[...]. Hum Genet 2018
14

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

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
24

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

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

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Jaya Bagaria, Eva Bagyinszky, Seong Soo A An. Int J Mol Sci 2022
3

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Nicolas Dupré, Jean-Pierre Bouchard, Bernard Brais, Guy A Rouleau. Can J Neurol Sci 2006
21

Rare forms of autosomal recessive neurodegenerative ataxia.
Michel Koenig. Semin Pediatr Neurol 2003
29

Computational analysis of a novel SACS gene mutation with BioExtract server.
Yosr Bouhlal, Douglas M Jennewein, Brent Anderson, Joe Reynoldson, Wiem Maamouri, Fayçal Hentati, Rim Amouri, Carol Lushbough. J Mol Neurosci 2011
0

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

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review.
Sze Yuen Lew, Michael Weng Lok Phang, Pit Shan Chong, Jaydeep Roy, Chi Him Poon, Wing Shan Yu, Lee Wei Lim, Kah Hui Wong. Pharmaceuticals (Basel) 2022
1

Spastic ataxias.
Olena Bereznyakova, Nicolas Dupré. Handb Clin Neurol 2018
11

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

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, Jean Muller, Nathalie Drouot, Farida Ferrat, Samira Makri, Malika Chaouch, Meriem Tazir, Michel Koenig,[...]. BMC Med Genet 2015
21

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
22

Other autosomal recessive and childhood ataxias.
Giuseppe De Michele, Alessandro Filla. Handb Clin Neurol 2012
7

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

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

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

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon. Orphanet J Rare Dis 2022
0


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