Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli, Tiziano Verri. Hum Mutat 2013
Times Cited: 22
Times Cited: 22
Times Cited
Times Co-cited
Similarity
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
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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
72
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
72
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
68
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
68
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
68
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
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
68
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
54
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
54
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
45
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
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
45
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
40
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
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
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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
31
HEPN: a common domain in bacterial drug resistance and human neurodegenerative proteins.
Marcin Grynberg, Heidi Erlandsen, Adam Godzik. Trends Biochem Sci 2003
Marcin Grynberg, Heidi Erlandsen, Adam Godzik. Trends Biochem Sci 2003
27
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
27
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
Chiara Criscuolo, C Procaccini, M C Meschini, A Cianflone, R Carbone, S Doccini, D Devos, C Nesti, I Vuillaume, M Pellegrino,[...]. J Neurol 2015
27
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
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
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
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
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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
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
22
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
Paul L Greer, Rikinari Hanayama, Brenda L Bloodgood, Alan R Mardinly, David M Lipton, Steven W Flavell, Tae-Kyung Kim, Eric C Griffith, Zachary Waldon, Rene Maehr,[...]. Cell 2010
Paul L Greer, Rikinari Hanayama, Brenda L Bloodgood, Alan R Mardinly, David M Lipton, Steven W Flavell, Tae-Kyung Kim, Eric C Griffith, Zachary Waldon, Rene Maehr,[...]. Cell 2010
22
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
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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
J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
22
Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.
Lubov Blumkin, Teisha Bradshaw, Marina Michelson, Tal Kopler, Dvir Dahari, Tally Lerman-Sagie, Dorit Lev, J Paul Chapple, Esther Leshinsky-Silver. Eur J Paediatr Neurol 2015
Lubov Blumkin, Teisha Bradshaw, Marina Michelson, Tal Kopler, Dvir Dahari, Tally Lerman-Sagie, Dorit Lev, J Paul Chapple, Esther Leshinsky-Silver. Eur J Paediatr Neurol 2015
50
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
22
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
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
22
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,[...]. J Physiol 2018
Visou Ady, Brenda Toscano-Márquez, Moushumi Nath, Philip K Chang, Jeanette Hui, Anna Cook, François Charron, Roxanne Larivière, Bernard Brais, R Anne McKinney,[...]. J Physiol 2018
22
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.
Federica Morani, Stefano Doccini, Roberto Sirica, Marta Paterno, Francesco Pezzini, Ivana Ricca, Alessandro Simonati, Massimo Delledonne, Filippo Maria Santorelli. Sci Rep 2019
Federica Morani, Stefano Doccini, Roberto Sirica, Marta Paterno, Francesco Pezzini, Ivana Ricca, Alessandro Simonati, Massimo Delledonne, Filippo Maria Santorelli. Sci Rep 2019
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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
Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano. Neurology 2006
18
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
26
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
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
18
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
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
18
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
Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, Rébecca Gaudet, Karine Choquet, R Anne McKinney, Alanna J Watt, Bernard Brais. Mol Brain 2019
26
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
Federica Morani, Stefano Doccini, Giovanna Chiorino, Fabiana Fattori, Daniele Galatolo, Elisa Sciarrillo, Federica Gemignani, Stephan Züchner, Enrico Silvio Bertini, Filippo Maria Santorelli. Front Neurol 2021
Federica Morani, Stefano Doccini, Giovanna Chiorino, Fabiana Fattori, Daniele Galatolo, Elisa Sciarrillo, Federica Gemignani, Stephan Züchner, Enrico Silvio Bertini, Filippo Maria Santorelli. Front Neurol 2021
57
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
Zhao Chen, Jun-Ling Wang, Bei-Sha Tang, Zhan-Fang Sun, Yu-Ting Shi, Lu Shen, Li-Fang Lei, Xiao-Ming Wei, Jing-Jing Xiao, Zheng-Mao Hu,[...]. Neurobiol Aging 2013
Zhao Chen, Jun-Ling Wang, Bei-Sha Tang, Zhan-Fang Sun, Yu-Ting Shi, Lu Shen, Li-Fang Lei, Xiao-Ming Wei, Jing-Jing Xiao, Zheng-Mao Hu,[...]. Neurobiol Aging 2013
17
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
Angela Pyle, Helen Griffin, Patrick Yu-Wai-Man, Jennifer Duff, Gail Eglon, Stuart Pickering-Brown, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery. Arch Neurol 2012
Angela Pyle, Helen Griffin, Patrick Yu-Wai-Man, Jennifer Duff, Gail Eglon, Stuart Pickering-Brown, Mauro Santibanez-Korev, Rita Horvath, Patrick F Chinnery. Arch Neurol 2012
15
Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Ana Vela, Jose Manuel Larrosa, Vicente Polo, Marcia L Marques, Jorge Alfaro. Invest Ophthalmol Vis Sci 2013
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Ana Vela, Jose Manuel Larrosa, Vicente Polo, Marcia L Marques, Jorge Alfaro. Invest Ophthalmol Vis Sci 2013
21
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
13
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
13
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
Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda. J Neurol Sci 2005
20
Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing.
Vivek Anantharaman, Kira S Makarova, A Maxwell Burroughs, Eugene V Koonin, L Aravind. Biol Direct 2013
Vivek Anantharaman, Kira S Makarova, A Maxwell Burroughs, Eugene V Koonin, L Aravind. Biol Direct 2013
13
Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases.
Hsiuchen Chen, David C Chan. Hum Mol Genet 2009
Hsiuchen Chen, David C Chan. Hum Mol Genet 2009
13
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
Xinlu Li, Marie Ménade, Guennadi Kozlov, Zheping Hu, Zheng Dai, Peter S McPherson, Bernard Brais, Kalle Gehring. PLoS One 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
13
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
13
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
Elena Garcia-Martin, Luis E Pablo, Jose Gazulla, Vicente Polo, Antonio Ferreras, Jose M Larrosa. Br J Ophthalmol 2013
21
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
13
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
30
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.