A citation-based method for searching scientific literature

Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek. Brain 2017
Times Cited: 50







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



Times Cited
  Times     Co-cited
Similarity


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
30
30

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
243
18


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
207
14

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
58
14

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
47
14

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
28
25

Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
128
14

Spinocerebellar ataxia: an update.
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
48
14

PLD3 gene and processing of APP.
Pietro Fazzari, Katrien Horre, Amaia M Arranz, Carlo Sala Frigerio, Takashi Saito, Takaomi C Saido, Bart De Strooper. Nature 2017
23
26

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Carlos Cruchaga, Celeste M Karch, Sheng Chih Jin, Bruno A Benitez, Yefei Cai, Rita Guerreiro, Oscar Harari, Joanne Norton, John Budde, Sarah Bertelsen,[...]. Nature 2014
285
12

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
61
12

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
48
12

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
192
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
41
14

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
55
12

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
200
12

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo,[...]. Brain 2017
56
12

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
Guo-Yun Yu, Michael J Howell, Matthew J Roller, Ting-Dong Xie, Christopher M Gomez. Ann Neurol 2005
47
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
47
12

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
86
10

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
97
10

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
71
10

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
35
14

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
165
10

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
182
10

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
10

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis,[...]. Nature 2017
140
10

Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon,[...]. Brain 2015
85
10

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli,[...]. Lancet Neurol 2015
94
10

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
46
10

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models.
Lauren R Moore, Gautam Rajpal, Ian T Dillingham, Maya Qutob, Kate G Blumenstein, Danielle Gattis, Gene Hung, Holly B Kordasiewicz, Henry L Paulson, Hayley S McLoughlin. Mol Ther Nucleic Acids 2017
61
10

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
10

A new dominantly inherited pure cerebellar ataxia, SCA 30.
E Storey, M Bahlo, M Fahey, O Sisson, C J Lueck, R J M Gardner. J Neurol Neurosurg Psychiatry 2009
32
15

Unconventional Trafficking of Mammalian Phospholipase D3 to Lysosomes.
Adriana Carolina Gonzalez, Michaela Schweizer, Sebastian Jagdmann, Christian Bernreuther, Thomas Reinheckel, Paul Saftig, Markus Damme. Cell Rep 2018
15
33

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Vincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, Li Wang, Carolyn J Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P Schaaf, Jill A Rosenfeld,[...]. Cell 2018
49
10

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
Melanie A Knight, R J McKinlay Gardner, Melanie Bahlo, Tohru Matsuura, Judith A Dixon, Susan M Forrest, Elsdon Storey. Brain 2004
66
10

PLD3 and PLD4 are single-stranded acid exonucleases that regulate endosomal nucleic-acid sensing.
Amanda L Gavin, Deli Huang, Christoph Huber, Annica Mårtensson, Virginie Tardif, Patrick D Skog, Tanya R Blane, Therese C Thinnes, Kent Osborn, Hayley S Chong,[...]. Nat Immunol 2018
35
14

PLD3 variants in population studies.
Sven J van der Lee, Henne Holstege, Tsz Hang Wong, Johanna Jakobsdottir, Joshua C Bis, Vincent Chouraki, Jeroen G J van Rooij, Megan L Grove, Albert V Smith, Najaf Amin,[...]. Nature 2015
37
10

PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses.
Deng-Feng Zhang, Yu Fan, Dong Wang, Rui Bi, Chen Zhang, Yiru Fang, Yong-Gang Yao. Mol Neurobiol 2016
22
18


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
453
8

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
188
8

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
242
8

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
189
8

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
8

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
37
10

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Conceição Bettencourt, Mina Ryten, Paola Forabosco, Stephanie Schorge, Joshua Hersheson, John Hardy, Henry Houlden. JAMA Neurol 2014
39
10

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
8


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.