A citation-based method for searching scientific literature

Maria Lisa Dentici, Sabina Barresi, Marta Nardella, Emanuele Bellacchio, Paolo Alfieri, Alessandro Bruselles, Francesca Pantaleoni, Alberto Danieli, Giancarlo Iarossi, Marco Cappa, Enrico Bertini, Marco Tartaglia, Ginevra Zanni. Gene 2017
Times Cited: 16







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



Times Cited
  Times     Co-cited
Similarity


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
64
81

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
44
75

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
62

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
62

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
27
62

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
56

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
56

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
56

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
56

Inositol trisphosphate receptor Ca2+ release channels.
J Kevin Foskett, Carl White, King-Ho Cheung, Don-On Daniel Mak. Physiol Rev 2007
796
50

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
50

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
331
43



Primary structure and functional expression of the inositol 1,4,5-trisphosphate-binding protein P400.
T Furuichi, S Yoshikawa, A Miyawaki, K Wada, N Maeda, K Mikoshiba. Nature 1989
955
37

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.
Jillian P Casey, Taisei Hirouchi, Chihiro Hisatsune, Bryan Lynch, Raymond Murphy, Aimee M Dunne, Akitoshi Miyamoto, Sean Ennis, Nick van der Spek, Bronagh O'Hici,[...]. J Neurol 2017
12
50

IP3-mediated gating mechanism of the IP3 receptor revealed by mutagenesis and X-ray crystallography.
Kozo Hamada, Hideyuki Miyatake, Akiko Terauchi, Katsuhiko Mikoshiba. Proc Natl Acad Sci U S A 2017
45
37

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
143
37

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
Daniel R Carvalho, João Eugenio G Medeiros, Daniela Sebestyan M Ribeiro, Bernardo J A F Martins, Nara L M Sobreira. Eur J Med Genet 2018
6
100

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Joakim Klar, Chihiro Hisatsune, Shahid M Baig, Muhammad Tariq, Anna C V Johansson, Mahmood Rasool, Naveed Altaf Malik, Adam Ameur, Kotomi Sugiura, Lars Feuk,[...]. J Clin Invest 2014
46
37

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl. Eur J Hum Genet 2017
14
42

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
31

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
31

IP3 receptor mutations and brain diseases in human and rodents.
Chihiro Hisatsune, Katsuhiko Mikoshiba. J Neurochem 2017
28
31

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
44
31

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
31

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
79
31

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa. PLoS One 2017
22
31

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
154
31

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
31

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu. Cerebellum 2018
5
100

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong. PLoS One 2017
11
45

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
31

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3.
Xi Chen, Tie-Shan Tang, Huiping Tu, Omar Nelson, Mark Pook, Robert Hammer, Nobuyuki Nukina, Ilya Bezprozvanny. J Neurosci 2008
151
25

Molecular characterization of the inositol 1,4,5-trisphosphate receptor pore-forming segment.
Zachary T Schug, Paula C A da Fonseca, Cunnigaiper D Bhanumathy, Larry Wagner, Xianchao Zhang, Bradley Bailey, Edward P Morris, David I Yule, Suresh K Joseph. J Biol Chem 2008
42
25

Regulation of inositol 1,4,5-trisphosphate-induced Ca2+ release by reversible phosphorylation and dephosphorylation.
Veerle Vanderheyden, Benoit Devogelaere, Ludwig Missiaen, Humbert De Smedt, Geert Bultynck, Jan B Parys. Biochim Biophys Acta 2009
134
25

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
25


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
25

Structural and functional conservation of key domains in InsP3 and ryanodine receptors.
Min-Duk Seo, Saroj Velamakanni, Noboru Ishiyama, Peter B Stathopulos, Ana M Rossi, Samir A Khan, Philippa Dale, Congmin Li, James B Ames, Mitsuhiko Ikura,[...]. Nature 2012
125
25

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
25

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
25

Defining the stoichiometry of inositol 1,4,5-trisphosphate binding required to initiate Ca2+ release.
Kamil J Alzayady, Liwei Wang, Rahul Chandrasekhar, Larry E Wagner, Filip Van Petegem, David I Yule. Sci Signal 2016
78
25

The versatility and universality of calcium signalling.
M J Berridge, P Lipp, M D Bootman. Nat Rev Mol Cell Biol 2000
25

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
C Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng,[...]. Front Pediatr 2015
105
25

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
25

IP3 receptor types 2 and 3 mediate exocrine secretion underlying energy metabolism.
Akira Futatsugi, Takeshi Nakamura, Maki K Yamada, Etsuko Ebisui, Kyoko Nakamura, Keiko Uchida, Tetsuya Kitaguchi, Hiromi Takahashi-Iwanaga, Tetsuo Noda, Jun Aruga,[...]. Science 2005
230
25

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.
Aparna Prasad, Raquel Rabionet, Blanca Espinet, Luis Zapata, Anna Puiggros, Carme Melero, Anna Puig, Yaris Sarria-Trujillo, Stephan Ossowski, Maria P Garcia-Muret,[...]. J Invest Dermatol 2016
40
25

Mutational analysis of the ligand binding site of the inositol 1,4,5-trisphosphate receptor.
F Yoshikawa, M Morita, T Monkawa, T Michikawa, T Furuichi, K Mikoshiba. J Biol Chem 1996
185
25

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang,[...]. Eur J Hum Genet 2018
18
25


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.