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Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
Visou Ady, Brenda Toscano-Márquez, Moushumi Nath, Philip K Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R Anne McKinney, Alanna J Watt. J Physiol 2018
Times Cited: 18






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



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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
48
9
50

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
283
8
44

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
113
8
44

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
23
7
38

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
81
6
33

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
99
6
33

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
91
6
33

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6.
Sriram Jayabal, Hui Ho Vanessa Chang, Kathleen E Cullen, Alanna J Watt. Sci Rep 2016
44
6
33

Sacs R272C missense homozygous mice develop an ataxia phenotype.
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R Anne McKinney, Alanna J Watt, Bernard Brais. Mol Brain 2019
12
6
50

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
170
5
27

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
99
5
27

Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1.
Raphael Hourez, Laurent Servais, David Orduz, David Gall, Isabelle Millard, Alban de Kerchove d'Exaerde, Guy Cheron, Harry T Orr, Massimo Pandolfo, Serge N Schiffmann. J Neurosci 2011
89
5
27

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
Joy T Walter, Karina Alviña, Mary D Womack, Carolyn Chevez, Kamran Khodakhah. Nat Neurosci 2006
291
5
27

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
53
4
22

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
38
4
22

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
38
4
22

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
42
4
22

The neurodegenerative-disease-related protein sacsin is a molecular chaperone.
John F Anderson, Efrain Siller, José M Barral. J Mol Biol 2011
42
4
22

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.
Stephen T Hansen, Pratap Meera, Thomas S Otis, Stefan M Pulst. Hum Mol Genet 2013
111
4
22

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Benoit J Gentil, Gia-Thanh Lai, Marie Menade, Roxanne Larivière, Sandra Minotti, Kalle Gehring, J-Paul Chapple, Bernard Brais, Heather D Durham. FASEB J 2019
15
4
26

Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3.
Vikram G Shakkottai, Maria do Carmo Costa, James M Dell'Orco, Ananthakrishnan Sankaranarayanan, Heike Wulff, Henry L Paulson. J Neurosci 2011
137
4
22

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Marie Ménade, Guennadi Kozlov, Jean-François Trempe, Harshit Pande, Solomon Shenker, Sihara Wickremasinghe, Xinlu Li, Hamed Hojjat, Marie-Josée Dicaire, Bernard Brais,[...]. J Biol Chem 2018
8
4
50

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Teisha Y Bradshaw, Lisa E L Romano, Emma J Duncan, Suran Nethisinghe, Rosella Abeti, Gregory J Michael, Paola Giunti, Sascha Vermeer, J Paul Chapple. Hum Mol Genet 2016
27
4
22

Traveling waves in developing cerebellar cortex mediated by asymmetrical Purkinje cell connectivity.
Alanna J Watt, Hermann Cuntz, Masahiro Mori, Zoltan Nusser, P Jesper Sjöström, Michael Häusser. Nat Neurosci 2009
113
4
22

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
97
3
16

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
26
3
16

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
45
3
16

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
3
16

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
16
3
18

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
38
3
16

FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons.
Vikram G Shakkottai, Maolei Xiao, Lin Xu, Michael Wong, Jeanne M Nerbonne, David M Ornitz, Kelvin A Yamada. Neurobiol Dis 2009
80
3
16

Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.
James M Dell'Orco, Aaron H Wasserman, Ravi Chopra, Melissa A C Ingram, Yuan-Shih Hu, Vikrant Singh, Heike Wulff, Puneet Opal, Harry T Orr, Vikram G Shakkottai. J Neurosci 2015
64
3
16

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
18
3
16

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
22
3
16

Clinical and molecular studies in two new cases of ARSACS.
Ivana Ricca, Federica Morani, Giacomo Maria Bacci, Claudia Nesti, Roberto Caputo, Alessandra Tessa, Filippo Maria Santorelli. Neurogenetics 2019
12
3
25

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas J Wood, Fion Bremner,[...]. Brain 2018
28
3
16

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
Adebimpe Kasumu, Ilya Bezprozvanny. Cerebellum 2012
89
3
16

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice.
Catherine J Stoodley, Anila M D'Mello, Jacob Ellegood, Vikram Jakkamsetti, Pei Liu, Mary Beth Nebel, Jennifer M Gibson, Elyza Kelly, Fantao Meng, Christopher A Cano,[...]. Nat Neurosci 2017
144
3
16

Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7.
Colleen A Stoyas, David D Bushart, Pawel M Switonski, Jacqueline M Ward, Akshay Alaghatta, Mi-Bo Tang, Chenchen Niu, Mandheer Wadhwa, Haoran Huang, Alex Savchenko,[...]. Neuron 2020
28
3
16

Cerebellar modules operate at different frequencies.
Haibo Zhou, Zhanmin Lin, Kai Voges, Chiheng Ju, Zhenyu Gao, Laurens W J Bosman, Tom J H Ruigrok, Freek E Hoebeek, Chris I De Zeeuw, Martijn Schonewille. Elife 2014
163
3
16

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
53
2
11

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
74
2
11

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
35
2
11

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
20
2
11

ARSACS goes global.
Christopher M Gomez. Neurology 2004
27
2
11

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
55
2
11

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Vicente Polo, Antonio Ferreras, Jose M Larrosa. Br J Ophthalmol 2013
13
2
15

High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.
Xinlu Li, Marie Ménade, Guennadi Kozlov, Zheping Hu, Zheng Dai, Peter S McPherson, Bernard Brais, Kalle Gehring. PLoS One 2015
7
2
28

Cerebellum and neuropsychiatric disorders: insights from ARSACS.
Andrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, Alessandra Rufa, Eugenia Storti, Giovanni Bonelli, Christian Marcotulli, Filippo Maria Santorelli, Luca Leonardi, Carlo Casali,[...]. Neurol Sci 2014
16
2
12

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
25
2
11


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.

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