A citation-based method for searching scientific literature

A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira, Y Fukumaki. J Med Genet 2008
Times Cited: 84







List of co-cited articles
1136 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
180
80

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
85
59

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
177
38

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
81
39

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
297
34

Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk,[...]. Nat Genet 2006
231
33

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
686
29

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
145
28

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
978
28

The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse.
V A Street, M M Bosma, V P Demas, M R Regan, D D Lin, L C Robinson, W S Agnew, B L Tempel. J Neurosci 1997
82
25

A new autosomal dominant pure cerebellar ataxia.
E Storey, R J Gardner, M A Knight, M L Kennerson, R R Tuck, S M Forrest, G A Nicholson. Neurology 2001
40
50

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller,[...]. Nat Genet 2006
194
23

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
50
40

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
596
22

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.
Stephanie Schorge, Joyce van de Leemput, Andrew Singleton, Henry Houlden, John Hardy. Trends Neurosci 2010
61
31

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi,[...]. Nat Genet 1996
463
22

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Henry Houlden, Janel Johnson, Christopher Gardner-Thorpe, Tammaryn Lashley, Dena Hernandez, Paul Worth, Andrew B Singleton, David A Hilton, Janice Holton, Tamas Revesz,[...]. Nat Genet 2007
106
21

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez,[...]. Am J Hum Genet 2003
156
21

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
28
64

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
21

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
52

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.
Heliane G Serra, Courtney E Byam, Jeffrey D Lande, Susan K Tousey, Huda Y Zoghbi, Harry T Orr. Hum Mol Genet 2004
122
20

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
27
62


Inositol trisphosphate receptor Ca2+ release channels.
J Kevin Foskett, Carl White, King-Ho Cheung, Don-On Daniel Mak. Physiol Rev 2007
762
20


A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
John C van Swieten, Esther Brusse, Bianca M de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A Oostra,[...]. Am J Hum Genet 2003
172
19

Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
Naoko Adachi, Takeshi Kobayashi, Hideyuki Takahashi, Takumi Kawasaki, Yasuhito Shirai, Takehiko Ueyama, Toshio Matsuda, Takahiro Seki, Norio Sakai, Naoaki Saito. J Biol Chem 2008
69
23

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
109
19


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
42
38

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
40
37

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
G Imbert, F Saudou, G Yvert, D Devys, Y Trottier, J M Garnier, C Weber, J L Mandel, G Cancel, N Abbas,[...]. Nat Genet 1996
520
17

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
33
45

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
16

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.
Stephen T Hansen, Pratap Meera, Thomas S Otis, Stefan M Pulst. Hum Mol Genet 2013
99
16


An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
M D Koob, M L Moseley, L J Schut, K A Benzow, T D Bird, J W Day, L P Ranum. Nat Genet 1999
367
15

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
162
15

Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1.
Tie-Shan Tang, Huiping Tu, Edmond Y W Chan, Anton Maximov, Zhengnan Wang, Cheryl L Wellington, Michael R Hayden, Ilya Bezprozvanny. Neuron 2003
323
15


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
92
15

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
39
33

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.
K Hara, T Fukushima, T Suzuki, T Shimohata, M Oyake, H Ishiguro, K Hirota, A Miyashita, R Kuwano, H Kurisaki,[...]. Neurology 2004
25
48

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
D S Verbeek, B P van de Warrenburg, P Wesseling, P L Pearson, H P Kremer, R J Sinke. Brain 2004
44
27

RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.
Heliane G Serra, Lisa Duvick, Tao Zu, Kerri Carlson, Sam Stevens, Nathan Jorgensen, Alana Lysholm, Eric Burright, Huda Y Zoghbi, H Brent Clark,[...]. Cell 2006
144
14

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
T Matsuura, T Yamagata, D L Burgess, A Rasmussen, R P Grewal, K Watase, M Khajavi, A E McCall, C F Davis, L Zu,[...]. Nat Genet 2000
297
14

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
K Nakamura, S Y Jeong, T Uchihara, M Anno, K Nagashima, T Nagashima, S Ikeda, S Tsuji, I Kanazawa. Hum Mol Genet 2001
382
14

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
86
14

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
20
60


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.