A citation-based method for searching scientific literature

Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.
Asthik Biswas, Mugil Varman, Sangeetha Yoganathan, Patel Khushboo Subhash, Sunithi Mani. Neurology 2018
Times Cited: 8






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



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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
106
6
75

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
47
4
50

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
173
3
37

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
3
37

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
K K Oguz, G Haliloglu, C Temucin, R Gocmen, A C Has, K Doerschner, A Dolgun, M Alikasifoglu. AJNR Am J Neuroradiol 2013
12
2
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
31
2
25

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
16
2
25

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
Yosr Bouhlal, Rim Amouri, Ghada El Euch-Fayeche, Fayçal Hentati. Parkinsonism Relat Disord 2011
58
2
25

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
47
2
25

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
2
25

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Hui Zeng, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, Jie-Qiong Tan. Cytogenet Genome Res 2017
7
2
28

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
2
33

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
2
25

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
291
2
25

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
15
2
25

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
2
25

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.
Maria R Stefanescu, Moritz Dohnalek, Stefan Maderwald, Markus Thürling, Martina Minnerop, Andreas Beck, Marc Schlamann, Joern Diedrichsen, Mark E Ladd, Dagmar Timmann. Brain 2015
71
2
25

Hereditary ataxias: overview.
Suman Jayadev, Thomas D Bird. Genet Med 2013
143
2
25

Cerebral abnormalities in adults with ataxia-telangiectasia.
D D M Lin, P B Barker, H M Lederman, T O Crawford. AJNR Am J Neuroradiol 2014
37
2
25

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
120
2
25

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.
Pankaj A Agarwal, Priti Ate-Upasani, Vedam L Ramprasad. Mov Disord Clin Pract 2017
7
1
14

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Brent L Fogel, Susan Perlman. Lancet Neurol 2007
182
1
12

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Adam P Vogel, Natalie Rommel, Andreas Oettinger, Lisa H Stoll, Eva-Maria Kraus, Cynthia Gagnon, Marius Horger, Patrick Krumm, Dagmar Timmann, Elsdon Storey,[...]. J Neurol 2018
14
1
12

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
1
12

An integrative transcriptomic atlas of organogenesis in human embryos.
Dave T Gerrard, Andrew A Berry, Rachel E Jennings, Karen Piper Hanley, Nicoletta Bobola, Neil A Hanley. Elife 2016
41
1
12

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
18
1
12

Recessive ataxias.
Matthis Synofzik, Andrea H Németh. Handb Clin Neurol 2018
49
1
12

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl. BMC Med Genet 2017
16
1
12

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.
Haruo Shimazaki, Yoshihisa Takiyama, Junko Honda, Kumi Sakoe, Michito Namekawa, Jun Tsugawa, Yoshio Tsuboi, Chieko Suzuki, Masayuki Baba, Imaharu Nakano. J Neuroimaging 2013
15
1
12

Myelinated retinal nerve fibers: prevalence, location and effect on visual acuity.
T Kodama, S Hayasaka, T Setogawa. Ophthalmologica 1990
44
1
12

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Gedeon Loules, Maria Zamanakou, Faidra Parsopoulou, Sofia Vatsiou, Fotis Psarros, Dorottya Csuka, Grzegorz Porebski, Krystyna Obtulowicz, Anna Valerieva, Maria Staevska,[...]. Gene 2018
26
1
12

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
10
1
12

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
Shirong Li, Yongping Chen, Xiaoqin Yuan, Qianqian Wei, Ruwei Ou, Xiaojing Gu, Huifang Shang. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018
3
1
33

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
16
1
12

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
3654
1
12

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
E Preiksaitiene, K Männik, V Dirse, A Utkus, Z Ciuladaite, J Kasnauskiene, A Kurg, V Kučinskas. Eur J Med Genet 2012
10
1
12

Progressive myoclonus epilepsy associated with SACS gene mutations.
Fábio A Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F Berkovic, Silvana Franceschetti, Danielle M Andrade. Neurol Genet 2016
7
1
14

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
20
1
12

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
17
1
12

A novel SACS gene mutation in a Tunisian family.
Yosr Bouhlal, Ghada El Euch-Fayeche, Fayçal Hentati, Rim Amouri. J Mol Neurosci 2009
12
1
12

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
A Richter, J D Rioux, J P Bouchard, J Mercier, J Mathieu, B Ge, J Poirier, D Julien, G Gyapay, J Weissenbach,[...]. Am J Hum Genet 1999
60
1
12

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
22
1
12

A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
40
1
12

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
39
1
12

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
15
1
12

Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.
E D McKenzie, P N Sharma, J S Parboosingh, O Suchowersky. Can J Neurol Sci 2014
3
1
33

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
10
1
12

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
1
12

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
56
1
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
27
1
12


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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