A citation-based method for searching scientific literature

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, Benno Küsters, Bart P van de Warrenburg, Berry Kremer, Cisca Wijmenga, Richard J Sinke, Morris A Swertz, Harm H Kampinga, Erik Boddeke, Dineke S Verbeek. Ann Neurol 2012
Times Cited: 82







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



Times Cited
  Times     Co-cited
Similarity


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
94
89

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
199
46


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
186
25

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
25

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
190
19

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P van de Warrenburg, Stephan Züchner, Michael Anthony Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa,[...]. BMC Med Genet 2015
29
55

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
238
18

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Anna Duarri, Meng-Chin A Lin, Michiel R Fokkens, Michel Meijer, Cleo J L M Smeets, Esther A R Nibbeling, Erik Boddeke, Richard J Sinke, Harm H Kampinga, Diane M Papazian,[...]. Cell Mol Life Sci 2015
18
83

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.
John R Giudicessi, Dan Ye, David J Tester, Lia Crotti, Alessandra Mugione, Vladislav V Nesterenko, Richard M Albertson, Charles Antzelevitch, Peter J Schwartz, Michael J Ackerman. Heart Rhythm 2011
146
17

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
40

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.
Morten Salling Olesen, Lena Refsgaard, Anders Gaarsdal Holst, Anders Peter Larsen, Søren Grubb, Stig Haunsø, Jesper Hastrup Svendsen, Søren-Peter Olesen, Nicole Schmitt, Kirstine Calloe. Cardiovasc Res 2013
66
21

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
John R Giudicessi, Dan Ye, Chad J Kritzberger, Vladislav V Nesterenko, David J Tester, Charles Antzelevitch, Michael J Ackerman. Hum Mutat 2012
43
32

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
161
15

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
69
18

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
D L Browne, S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt. Nat Genet 1994
573
15

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
85
15

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Karla P Figueroa, Natali A Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr,[...]. Hum Mutat 2010
59
20

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
123
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
90
14

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
R A Ophoff, G M Terwindt, M N Vergouwe, R van Eijk, P J Oefner, S M Hoffman, J E Lamerdin, H W Mohrenweiser, D E Bulman, M Ferrari,[...]. Cell 1996
14

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Anna Duarri, Esther Nibbeling, Michiel R Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S Verbeek. Neurogenetics 2013
13
92

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto,[...]. Am J Hum Genet 2015
55
21

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
Ming-Yi Chung, Yi-Chun Lu, Nai-Chia Cheng, Bing-Wen Soong. Brain 2003
55
20

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
171
13

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
100
13

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
202
13

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
170
13

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
13

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
13

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
858
13

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
445
13

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
317
13

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
24

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Dineke S Verbeek, Jurgen H Schelhaas, Elly F Ippel, Frits A Beemer, Peter L Pearson, Richard J Sinke. Hum Genet 2002
48
20

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
77
12

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
643
12

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
339
12

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou,[...]. Nat Genet 1997
595
12

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
K Nakamura, S Y Jeong, T Uchihara, M Anno, K Nagashima, T Nagashima, S Ikeda, S Tsuji, I Kanazawa. Hum Mol Genet 2001
450
12

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
85
12

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
267
12

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
187
12

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
38
26

Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo.
Anton N Shuvaev, Hajime Horiuchi, Takahiro Seki, Hanna Goenawan, Tomohiko Irie, Akira Iizuka, Norio Sakai, Hirokazu Hirai. J Neurosci 2011
55
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
76
11

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.
Jing Liu, Tie-Shan Tang, Huiping Tu, Omar Nelson, Emily Herndon, Duong P Huynh, Stefan M Pulst, Ilya Bezprozvanny. J Neurosci 2009
179
10

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi,[...]. Nat Genet 1996
604
10

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.
Heliane G Serra, Courtney E Byam, Jeffrey D Lande, Susan K Tousey, Huda Y Zoghbi, Harry T Orr. Hum Mol Genet 2004
128
10

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.
X Lin, B Antalffy, D Kang, H T Orr, H Y Zoghbi. Nat Neurosci 2000
272
10


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.