A citation-based method for searching scientific literature

Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Durr. Brain 2017
Times Cited: 56







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



Times Cited
  Times     Co-cited
Similarity



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
32

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
25

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
21

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
21

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
17

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
31
29

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A Rouleau, Oksana Suchowersky, Victoria Siu,[...]. Hum Mutat 2014
65
16

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
152
16

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
16

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B E Becker, Katarzyna D Bera, Morag E Shanks, Lorna Gregory, David Buck, M Zameel Cader,[...]. Brain 2013
107
14

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
26

Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
907
14

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Chihiro Ohba, Hitoshi Osaka, Mizue Iai, Sumimasa Yamashita, Yume Suzuki, Noriko Aida, Nobuyuki Shimozawa, Ayumi Takamura, Hiroshi Doi, Atsuko Tomita-Katsumoto,[...]. Neurogenetics 2013
78
12

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.
M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend,[...]. J Neurol Neurosurg Psychiatry 2017
63
12

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Lise Larrieu, Perrine Charles, Xavier Ayrignac, Sabrina Sacconi, Patrick Collignon,[...]. Hum Mutat 2016
26
26

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
12

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
12

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka, Toshihiro Hayashi, Yasuo Terao, Takashi Matsukawa, Jun Mitsui, Juntaro Kaneko, Kazutoshi Nishiyama,[...]. Cerebellum 2018
11
63

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
12

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles,[...]. Lancet Neurol 2015
108
12

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
19
31

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.
H J Schelhaas, P F Ippel, G Hageman, R J Sinke, E N van der Laan, F A Beemer. J Neurol 2001
41
14



Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
197
10

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
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,[...]. Brain 2017
50
12

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

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

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
10

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
8


Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft. PLoS One 2017
31
16

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
8

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
649
8

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
P Charles, A Camuzat, N Benammar, F Sellal, A Destée, A-M Bonnet, S Lesage, I Le Ber, G Stevanin, A Dürr,[...]. Neurology 2007
90
8

SPG7 mutations are a common cause of undiagnosed ataxia.
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
62
8

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin, Marine Brion, Marie Delliaux, Delphine Dellacherie, Jean-Christophe Cuvellier, Jean-Marie Cuisset, Audrey Riquet, Caroline Moreau,[...]. Parkinsonism Relat Disord 2017
14
35

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
Theresa A Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S H Subramony, Jeremy D Schmahmann, K P Figueroa,[...]. Neurology 2018
39
12

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
106
8

Polyglutamine tracts regulate beclin 1-dependent autophagy.
Avraham Ashkenazi, Carla F Bento, Thomas Ricketts, Mariella Vicinanza, Farah Siddiqi, Mariana Pavel, Ferdinando Squitieri, Maarten C Hardenberg, Sara Imarisio, Fiona M Menzies,[...]. Nature 2017
168
8

Responsiveness of different rating instruments in spinocerebellar ataxia patients.
T Schmitz-Hübsch, R Fimmers, M Rakowicz, R Rola, E Zdzienicka, R Fancellu, C Mariotti, C Linnemann, L Schöls, D Timmann,[...]. Neurology 2010
89
8


Targeting potassium channels to treat cerebellar ataxia.
David D Bushart, Ravi Chopra, Vikrant Singh, Geoffrey G Murphy, Heike Wulff, Vikram G Shakkottai. Ann Clin Transl Neurol 2018
28
17

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
8

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Sophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, Karla P Figueroa, Yaeko Ichikawa, Alessandro Brussino, Sylvie Forlani, Maria Rakowicz, Ludger Schöls, Caterina Mariotti,[...]. Brain 2014
92
8

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Conceição Bettencourt, Davina Hensman-Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stevanin, Georgios Koutsis, Georgia Karadima, Marios Panas,[...]. Ann Neurol 2016
107
8

Genetic Variants Associated with Episodic Ataxia in Korea.
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
30
16

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
14
35

Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
112
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.