A citation-based method for searching scientific literature

Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Philippe Lory, Giovanni Stevanin. Am J Hum Genet 2015
Times Cited: 55







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



Times Cited
  Times     Co-cited
Similarity


A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
Hiroyuki Morino, Yukiko Matsuda, Keiko Muguruma, Ryosuke Miyamoto, Ryosuke Ohsawa, Toshiyuki Ohtake, Reiko Otobe, Masahiko Watanabe, Hirofumi Maruyama, Kouichi Hashimoto,[...]. Mol Brain 2015
45
68


Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
Brent L Fogel, Sonya M Hanson, Esther B E Becker. Mov Disord 2015
45
37

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, D W Stockton, C Amos, W B Dobyns, S H Subramony, H Y Zoghbi, C C Lee. Nat Genet 1997
978
27

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.
Mari Kimura, Ichiro Yabe, Yuka Hama, Katsuki Eguchi, Shigehisa Ura, Kazufumi Tsuzaka, Shoji Tsuji, Hidenao Sasaki. J Hum Genet 2017
15
100

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller,[...]. Nat Genet 2006
194
25

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bole-Feysot,[...]. Brain 2018
27
51

Mutations in KCND3 cause spinocerebellar ataxia type 22.
Yi-Chung Lee, Alexandra Durr, Karen Majczenko, Yen-Hua Huang, Yu-Chao Liu, Cheng-Chang Lien, Pei-Chien Tsai, Yaeko Ichikawa, Jun Goto, Marie-Lorraine Monin,[...]. Ann Neurol 2012
92
23

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Anna Duarri, Justyna Jezierska, Michiel Fokkens, Michel Meijer, Helenius J Schelhaas, Wilfred F A den Dunnen, Freerk van Dijk, Corien Verschuuren-Bemelmans, Gerard Hageman, Pieter van de Vlies,[...]. Ann Neurol 2012
80
21


Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghbi. Nat Genet 1993
20

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin,[...]. PLoS Genet 2007
180
20

ELOVL5 mutations cause spinocerebellar ataxia 38.
Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia,[...]. Am J Hum Genet 2014
52
21

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong,[...]. J Med Genet 2014
37
29

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine Fawcett, Samuel Clokie, Yvonne Wallis,[...]. Am J Hum Genet 2017
29
37

The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.
Gerald W Zamponi, Joerg Striessnig, Alexandra Koschak, Annette C Dolphin. Pharmacol Rev 2015
412
18

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Maxime Cadieux-Dion, Maude Turcotte-Gauthier, Anne Noreau, Caroline Martin, Caroline Meloche, Micheline Gravel, Christian Allen Drouin, Guy A Rouleau, Dang Khoa Nguyen, Patrick Cossette. JAMA Neurol 2014
57
18

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez,[...]. Am J Hum Genet 2003
156
18


A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
John C van Swieten, Esther Brusse, Bianca M de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A Oostra,[...]. Am J Hum Genet 2003
172
16

Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Xiaofei Du, Jun Wang, Haipeng Zhu, Lorenzo Rinaldo, Kay-Marie Lamar, Ann C Palmenberg, Christian Hansel, Christopher M Gomez. Cell 2013
88
16

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
198
16

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman,[...]. Orphanet J Rare Dis 2012
81
16

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark,[...]. Hum Mol Genet 2012
35
25

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
157
16

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
Chantal Depondt, Simona Donatello, Myriam Rai, François Charles Wang, Mario Manto, Nicolas Simonis, Massimo Pandolfo. Neurol Genet 2016
26
34

Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk,[...]. Nat Genet 2006
231
14

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
99
14

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira,[...]. J Med Genet 2008
84
14

Brain pathology of spinocerebellar ataxias.
Kay Seidel, Sonny Siswanto, Ewout R P Brunt, Wilfred den Dunnen, Horst-Werner Korf, Udo Rüb. Acta Neuropathol 2012
197
14

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Jun Ling Wang, Xu Yang, Kun Xia, Zheng Mao Hu, Ling Weng, Xin Jin, Hong Jiang, Peng Zhang, Lu Shen, Ji Feng Guo,[...]. Brain 2010
176
14

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner,[...]. Nat Genet 1999
270
14

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
686
14

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
T Matsuura, T Yamagata, D L Burgess, A Rasmussen, R P Grewal, K Watase, M Khajavi, A E McCall, C F Davis, L Zu,[...]. Nat Genet 2000
297
14

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P C Van de Warrenburg,[...]. Am J Hum Genet 2010
67
14

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Henry Houlden, Janel Johnson, Christopher Gardner-Thorpe, Tammaryn Lashley, Dena Hernandez, Paul Worth, Andrew B Singleton, David A Hilton, Janice Holton, Tamas Revesz,[...]. Nat Genet 2007
106
14

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
36
22

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
83
14

Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2.
Adebimpe W Kasumu, Charlotte Hougaard, Frederik Rode, Thomas A Jacobsen, Jean Marc Sabatier, Birgitte L Eriksen, Dorte Strøbæk, Xia Liang, Polina Egorova, Dasha Vorontsova,[...]. Chem Biol 2012
74
14


Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive.
Young-Gyun Park, Hye-Yeon Park, C Justin Lee, Soonwook Choi, Seonmi Jo, Hansol Choi, Yang-Hann Kim, Hee-Sup Shin, Rodolfo R Llinas, Daesoo Kim. Proc Natl Acad Sci U S A 2010
79
12

Update on degenerative ataxias.
Thomas Klockgether. Curr Opin Neurol 2011
59
12

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.
A Matilla-Dueñas, T Ashizawa, A Brice, S Magri, K N McFarland, M Pandolfo, S M Pulst, O Riess, D C Rubinsztein, J Schmidt,[...]. Cerebellum 2014
70
12

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
596
12

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
12

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
D S Verbeek, B P van de Warrenburg, P Wesseling, P L Pearson, H P Kremer, R J Sinke. Brain 2004
44
15

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
162
12

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin,[...]. Brain 2014
32
21

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
M D Koob, M L Moseley, L J Schut, K A Benzow, T D Bird, J W Day, L P Ranum. Nat Genet 1999
367
12

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
226
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.