A citation-based method for searching scientific literature

S Barresi, M Niceta, P Alfieri, V Brankovic, G Piccini, A Bruselles, M R Barone, R Cusmai, M Tartaglia, E Bertini, G Zanni. Clin Genet 2017
Times Cited: 28







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



Times Cited
  Times     Co-cited
Similarity


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
71

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
67

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
64

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
60

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
57

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
57

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
53

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
50

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
46

Inositol trisphosphate receptor Ca2+ release channels.
J Kevin Foskett, Carl White, King-Ho Cheung, Don-On Daniel Mak. Physiol Rev 2007
803
42

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
68

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
39

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
52

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
39


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
35

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
35

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
35

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
Maria Lisa Dentici, Sabina Barresi, Marta Nardella, Emanuele Bellacchio, Paolo Alfieri, Alessandro Bruselles, Francesca Pantaleoni, Alberto Danieli, Giancarlo Iarossi, Marco Cappa,[...]. Gene 2017
16
62

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
43

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
32

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
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
32

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
28

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
957
28

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

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
28

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
28

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
66

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
46
28


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
152
25


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
25

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
25


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
25

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
50

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
21


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
47
21


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
126
21

In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model.
Polina A Egorova, Olga A Zakharova, Olga L Vlasova, Ilya B Bezprozvanny. J Neurophysiol 2016
37
21

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
21

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
21


IP3 receptor mutations and brain diseases in human and rodents.
Chihiro Hisatsune, Katsuhiko Mikoshiba. J Neurochem 2017
30
21

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
17

IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice.
Chihiro Hisatsune, Hiroyuki Miyamoto, Moritoshi Hirono, Naohide Yamaguchi, Takeyuki Sugawara, Naoko Ogawa, Etsuko Ebisui, Toshio Ohshima, Masahisa Yamada, Takao K Hensch,[...]. Front Neural Circuits 2013
33
17


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.