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



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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
61

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
61

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

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
52

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
52

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
47

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
42

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
42

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
38

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
38

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
38

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
33

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
33

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
43

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
37

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
28

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
28

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
28

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
28

Inositol trisphosphate receptor Ca2+ release channels.
J Kevin Foskett, Carl White, King-Ho Cheung, Don-On Daniel Mak. Physiol Rev 2007
803
28

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
28

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
54

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

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
23

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
23

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Yasmin Namavar, Peter G Barth, Paul R Kasher, Fred van Ruissen, Knut Brockmann, Günther Bernert, Karin Writzl, Karen Ventura, Edith Y Cheng, Donna M Ferriero,[...]. Brain 2011
137
23

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
23
23

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


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
23

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
19

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
19

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
19

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit S Budde, Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Gudrun Nürnberg, Christian Becker, Fred van Ruissen, Marian A J Weterman, Kees Fluiter, Erik T te Beek,[...]. Nat Genet 2008
153
19

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baas. Orphanet J Rare Dis 2011
105
19


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
66

The versatility and universality of calcium signalling.
M J Berridge, P Lipp, M D Bootman. Nat Rev Mol Cell Biol 2000
19

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
19

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
19

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
19

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
41
19

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
19

Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
Masayoshi Tada, Masatoyo Nishizawa, Osamu Onodera. Neurochem Int 2016
29
14

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
14

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
14

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
14

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
14

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.
Melanie A Knight, Marina L Kennerson, Richard J Anney, Tohru Matsuura, Garth A Nicholson, Peyman Salimi-Tari, R J McKinlay Gardner, Elsdon Storey, Susan M Forrest. Neurobiol Dis 2003
51
14

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
14


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.