A citation-based method for searching scientific literature

Chihiro Ohba, Hitoshi Osaka, Mizue Iai, Sumimasa Yamashita, Yume Suzuki, Noriko Aida, Nobuyuki Shimozawa, Ayumi Takamura, Hiroshi Doi, Atsuko Tomita-Katsumoto, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Yoshikatsu Eto, Fumiaki Tanaka, Naomichi Matsumoto, Hirotomo Saitsu. Neurogenetics 2013
Times Cited: 79







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



Times Cited
  Times     Co-cited
Similarity


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
155
45

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
67
46

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
87
27

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
108
26

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
86
25

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
Masayuki Sasaki, Chihiro Ohba, Mizue Iai, Shinichi Hirabayashi, Hitoshi Osaka, Takuya Hiraide, Hirotomo Saitsu, Naomichi Matsumoto. J Neurol 2015
41
43

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
193
18

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
K Hara, A Shiga, H Nozaki, J Mitsui, Y Takahashi, H Ishiguro, H Yomono, H Kurisaki, J Goto, T Ikeuchi,[...]. Neurology 2008
91
18

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
18

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, M R Barone, R Cusmai, M Tartaglia, E Bertini,[...]. Clin Genet 2017
28
46

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
91
15

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.
T E Dudding, K Friend, P W Schofield, S Lee, I A Wilkinson, R I Richards. Neurology 2004
58
20

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.
Haruka Yamazaki, Hiroaki Nozaki, Osamu Onodera, Takayuki Michikawa, Masatoyo Nishizawa, Katsuhiko Mikoshiba. Biochem Biophys Res Commun 2011
21
57

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Sylvie Gerber, Kamil J Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr,[...]. Am J Hum Genet 2016
67
17

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L Therese Bergendahl, Alan Quigley, Joe Rainger,[...]. Am J Hum Genet 2016
45
26


Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.
Junji Hirota, Hideaki Ando, Kozo Hamada, Katsuhiko Mikoshiba. Biochem J 2003
112
13

De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, Wayne I L Davies, Maria Cristina D'Adamo, Mauro Pessia, Katherine A Fawcett, David Sims, Elodie Gillard, Karl Hudspith,[...]. Brain 2015
88
13

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Cecilia Marelli, Joyce van de Leemput, Janel O Johnson, Francois Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G Hernandez, Bernard Huttin, Jacques Boulliat,[...]. Arch Neurol 2011
45
22

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson. PLoS Genet 2009
88
12

Inositol trisphosphate receptor Ca2+ release channels.
J Kevin Foskett, Carl White, King-Ho Cheung, Don-On Daniel Mak. Physiol Rev 2007
803
12

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
M I Shadrina, M V Shulskaya, S A Klyushnikov, T Nikopensius, M Nelis, P A Kivistik, A A Komar, S A Limborska, S N Illarioshkin, P A Slominsky. Cerebellum Ataxias 2016
16
62

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
11

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
Marianne J U Novak, Mary G Sweeney, Abi Li, Colm Treacy, Hoskote S Chandrashekar, Paola Giunti, Robert G Goold, Mary B Davis, Henry Houlden, Sarah J Tabrizi. Mov Disord 2010
34
26

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
570
11

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Namik Kaya, Hesham Aldhalaan, Banan Al-Younes, Dilek Colak, Taghreed Shuaib, Fahad Al-Mohaileb, Abdulaziz Al-Sugair, Michael Nester, Suad Al-Yamani, Albandary Al-Bakheet,[...]. Am J Med Genet B Neuropsychiatr Genet 2011
48
18

IRBIT suppresses IP3 receptor activity by competing with IP3 for the common binding site on the IP3 receptor.
Hideaki Ando, Akihiro Mizutani, Hélène Kiefer, Dai Tsuzurugi, Takayuki Michikawa, Katsuhiko Mikoshiba. Mol Cell 2006
119
11

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
Devika Ganesamoorthy, Damien L Bruno, Jacqueline Schoumans, Elsdon Storey, Martin B Delatycki, Danqing Zhu, Morgan K Wei, Garth A Nicholson, R J McKinlay Gardner, Howard R Slater. Clin Chem 2009
28
32

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
145
11

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova,[...]. Am J Hum Genet 2012
57
15

Gating machinery of InsP3R channels revealed by electron cryomicroscopy.
Guizhen Fan, Matthew L Baker, Zhao Wang, Mariah R Baker, Pavel A Sinyagovskiy, Wah Chiu, Steven J Ludtke, Irina I Serysheva. Nature 2015
141
11

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
10

Type 1 inositol trisphosphate receptor regulates cerebellar circuits by maintaining the spine morphology of purkinje cells in adult mice.
Takeyuki Sugawara, Chihiro Hisatsune, Tung Dinh Le, Tsutomu Hashikawa, Moritoshi Hirono, Mitsuharu Hattori, Soichi Nagao, Katsuhiko Mikoshiba. J Neurosci 2013
48
16

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
Matthis Synofzik, Christian Beetz, Claudia Bauer, Michael Bonin, Elena Sanchez-Ferrero, Tanja Schmitz-Hübsch, Ullrich Wüllner, Thomas Nägele, Olaf Riess, Ludger Schöls,[...]. J Med Genet 2011
37
21

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.
Masato Obayashi, Kinya Ishikawa, Yuishin Izumi, Makoto Takahashi, Yusuke Niimi, Nozomu Sato, Osamu Onodera, Ryuji Kaji, Masatoyo Nishizawa, Hidehiro Mizusawa. J Hum Genet 2012
17
47

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, Sara Kivity, Dorit Lev, Tally Lerman-Sagie. J Child Neurol 2010
34
23

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.
M Matsumoto, T Nakagawa, T Inoue, E Nagata, K Tanaka, H Takano, O Minowa, J Kuno, S Sakakibara, M Yamada,[...]. Nature 1996
332
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
184
10

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
M J Keogh, H Steele, K Douroudis, A Pyle, J Duff, R Hussain, T Smertenko, H Griffin, M Santibanez-Koref, R Horvath,[...]. J Neurol 2015
16
50


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
57
14

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
28
28

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan,[...]. Orphanet J Rare Dis 2017
23
34

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
8

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
8

Structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with its ligand.
Ivan Bosanac, Jean-René Alattia, Tapas K Mal, Jenny Chan, Susanna Talarico, Frances K Tong, Kit I Tong, Fumio Yoshikawa, Teiichi Furuichi, Miwako Iwai,[...]. Nature 2002
252
8

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.
Eleonora Di Gregorio, Laura Orsi, Massimiliano Godani, Giovanna Vaula, Stella Jensen, Eric Salmon, Giancarlo Ferrari, Stefania Squadrone, Maria Cesarina Abete, Claudia Cagnoli,[...]. Cerebellum 2010
29
24

C5orf42 is the major gene responsible for OFD syndrome type VI.
Estelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Muriel Holder, Hélène Ansart-Franquet, Magali Avila, Didier Lacombe, Pascale Kleinfinger,[...]. Hum Genet 2014
48
14


Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice.
Yan Jiao, Jian Yan, Yu Zhao, Leah Rae Donahue, Wesley G Beamer, Xinmin Li, Bruce A Roe, Mark S Ledoux, Weikuan Gu. Genetics 2005
89
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.