Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki, Fumitoshi Ishino, Yuko Saito, Shigeo Murayama, Mari Yoshida, Yoshio Hashizume, Yuji Takahashi, Shoji Tsuji, Nobuyoshi Shimizu, Tatsushi Toda, Kinya Ishikawa, Hidehiro Mizusawa. Am J Hum Genet 2009
Times Cited: 181
Times Cited: 181
Times Cited
Times Co-cited
Similarity
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
42
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
37
Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
34
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
M D Koob, M L Moseley, L J Schut, K A Benzow, T D Bird, J W Day, L P Ranum. Nat Genet 1999
30
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
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
30
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C van Swieten, Liisa Myllykangas,[...]. Neuron 2011
Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C van Swieten, Liisa Myllykangas,[...]. Neuron 2011
30
Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
Yusuke Niimi, Makoto Takahashi, Emiko Sugawara, Shigeaki Umeda, Masato Obayashi, Nozomu Sato, Taro Ishiguro, Miwa Higashi, Yoshinobu Eishi, Hidehiro Mizusawa,[...]. Neuropathology 2013
Yusuke Niimi, Makoto Takahashi, Emiko Sugawara, Shigeaki Umeda, Masato Obayashi, Nozomu Sato, Taro Ishiguro, Miwa Higashi, Yoshinobu Eishi, Hidehiro Mizusawa,[...]. Neuropathology 2013
68
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
26
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
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
25
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
41
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
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
24
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner,[...]. Nat Genet 1999
S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner,[...]. Nat Genet 1999
22
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
C L Liquori, K Ricker, M L Moseley, J F Jacobsen, W Kress, S L Naylor, J W Day, L P Ranum. Science 2001
C L Liquori, K Ricker, M L Moseley, J F Jacobsen, W Kress, S L Naylor, J W Day, L P Ranum. Science 2001
22
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
22
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta,[...]. Neuron 2017
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta,[...]. Neuron 2017
30
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
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
21
21
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
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
20
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
Melinda L Moseley, Tao Zu, Yoshio Ikeda, Wangcai Gao, Anne K Mosemiller, Randy S Daughters, Gang Chen, Marcy R Weatherspoon, H Brent Clark, Timothy J Ebner,[...]. Nat Genet 2006
Melinda L Moseley, Tao Zu, Yoshio Ikeda, Wangcai Gao, Anne K Mosemiller, Randy S Daughters, Gang Chen, Marcy R Weatherspoon, H Brent Clark, Timothy J Ebner,[...]. Nat Genet 2006
20
RNA gain-of-function in spinocerebellar ataxia type 8.
Randy S Daughters, Daniel L Tuttle, Wangcai Gao, Yoshio Ikeda, Melinda L Moseley, Timothy J Ebner, Maurice S Swanson, Laura P W Ranum. PLoS Genet 2009
Randy S Daughters, Daniel L Tuttle, Wangcai Gao, Yoshio Ikeda, Melinda L Moseley, Timothy J Ebner, Maurice S Swanson, Laura P W Ranum. PLoS Genet 2009
18
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.
K Ishikawa, A Dürr, T Klopstock, S Müller, B De Toffol, M Vidailhet, A Vighetto, C Marelli, H-E Wichmann, T Illig,[...]. Neurology 2011
K Ishikawa, A Dürr, T Klopstock, S Müller, B De Toffol, M Vidailhet, A Vighetto, C Marelli, H-E Wichmann, T Illig,[...]. Neurology 2011
52
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.
Peter K Todd, Seok Yoon Oh, Amy Krans, Fang He, Chantal Sellier, Michelle Frazer, Abigail J Renoux, Kai-chun Chen, K Matthew Scaglione, Venkatesha Basrur,[...]. Neuron 2013
Peter K Todd, Seok Yoon Oh, Amy Krans, Fang He, Chantal Sellier, Michelle Frazer, Abigail J Renoux, Kai-chun Chen, K Matthew Scaglione, Venkatesha Basrur,[...]. Neuron 2013
18
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
A J Verkerk, M Pieretti, J S Sutcliffe, Y H Fu, D P Kuhl, A Pizzuti, O Reiner, S Richards, M F Victoria, F P Zhang. Cell 1991
A J Verkerk, M Pieretti, J S Sutcliffe, Y H Fu, D P Kuhl, A Pizzuti, O Reiner, S Richards, M F Victoria, F P Zhang. Cell 1991
18
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
R Koide, T Ikeuchi, O Onodera, H Tanaka, S Igarashi, K Endo, H Takahashi, R Kondo, A Ishikawa, T Hayashi. Nat Genet 1994
R Koide, T Ikeuchi, O Onodera, H Tanaka, S Igarashi, K Endo, H Takahashi, R Kondo, A Ishikawa, T Hayashi. Nat Genet 1994
18
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
A R La Spada, E M Wilson, D B Lubahn, A E Harding, K H Fischbeck. Nature 1991
A R La Spada, E M Wilson, D B Lubahn, A E Harding, K H Fischbeck. Nature 1991
18
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
18
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
Eric D Wieben, Ross A Aleff, Nirubol Tosakulwong, Malinda L Butz, W Edward Highsmith, Albert O Edwards, Keith H Baratz. PLoS One 2012
Eric D Wieben, Ross A Aleff, Nirubol Tosakulwong, Malinda L Butz, W Edward Highsmith, Albert O Edwards, Keith H Baratz. PLoS One 2012
17
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
K Nakamura, S Y Jeong, T Uchihara, M Anno, K Nagashima, T Nagashima, S Ikeda, S Tsuji, I Kanazawa. Hum Mol Genet 2001
16
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
Kohji Mori, Shih-Ming Weng, Thomas Arzberger, Stephanie May, Kristin Rentzsch, Elisabeth Kremmer, Bettina Schmid, Hans A Kretzschmar, Marc Cruts, Christine Van Broeckhoven,[...]. Science 2013
Kohji Mori, Shih-Ming Weng, Thomas Arzberger, Stephanie May, Kristin Rentzsch, Elisabeth Kremmer, Bettina Schmid, Hans A Kretzschmar, Marc Cruts, Christine Van Broeckhoven,[...]. Science 2013
16
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
J D Brook, M E McCurrach, H G Harley, A J Buckler, D Church, H Aburatani, K Hunter, V P Stanton, J P Thirion, T Hudson. Cell 1992
J D Brook, M E McCurrach, H G Harley, A J Buckler, D Church, H Aburatani, K Hunter, V P Stanton, J P Thirion, T Hudson. Cell 1992
15
15
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
15
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou,[...]. Nat Genet 1997
G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou,[...]. Nat Genet 1997
14
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
K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi,[...]. Nat Genet 1996
14
A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.
K Owada, K Ishikawa, S Toru, G Ishida, M Gomyoda, O Tao, Y Noguchi, K Kitamura, I Kondo, E Noguchi,[...]. Neurology 2005
K Owada, K Ishikawa, S Toru, G Ishida, M Gomyoda, O Tao, Y Noguchi, K Kitamura, I Kondo, E Noguchi,[...]. Neurology 2005
25
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Peter E A Ash, Kevin F Bieniek, Tania F Gendron, Thomas Caulfield, Wen-Lang Lin, Mariely Dejesus-Hernandez, Marka M van Blitterswijk, Karen Jansen-West, Joseph W Paul, Rosa Rademakers,[...]. Neuron 2013
Peter E A Ash, Kevin F Bieniek, Tania F Gendron, Thomas Caulfield, Wen-Lang Lin, Mariely Dejesus-Hernandez, Marka M van Blitterswijk, Karen Jansen-West, Joseph W Paul, Rosa Rademakers,[...]. Neuron 2013
14
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
S E Holmes, E O'Hearn, A Rosenblatt, C Callahan, H S Hwang, R G Ingersoll-Ashworth, A Fleisher, G Stevanin, A Brice, N T Potter,[...]. Nat Genet 2001
S E Holmes, E O'Hearn, A Rosenblatt, C Callahan, H S Hwang, R G Ingersoll-Ashworth, A Fleisher, G Stevanin, A Brice, N T Potter,[...]. Nat Genet 2001
14
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
M Mahadevan, C Tsilfidis, L Sabourin, G Shutler, C Amemiya, G Jansen, C Neville, M Narang, J Barceló, K O'Hoy. Science 1992
M Mahadevan, C Tsilfidis, L Sabourin, G Shutler, C Amemiya, G Jansen, C Neville, M Narang, J Barceló, K O'Hoy. Science 1992
14
RNA-mediated neurodegeneration in repeat expansion disorders.
Peter K Todd, Henry L Paulson. Ann Neurol 2010
Peter K Todd, Henry L Paulson. Ann Neurol 2010
14
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
Oyinkan A Sofola, Peng Jin, Yunlong Qin, Ranhui Duan, Huijie Liu, Maria de Haro, David L Nelson, Juan Botas. Neuron 2007
Oyinkan A Sofola, Peng Jin, Yunlong Qin, Ranhui Duan, Huijie Liu, Maria de Haro, David L Nelson, Juan Botas. Neuron 2007
14
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
32
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
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
13
Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).
Yoshio Ikeda, Yasuyuki Ohta, Hatasu Kobayashi, Miyuki Okamoto, Kazuhiro Takamatsu, Taisei Ota, Yasuhiro Manabe, Koichi Okamoto, Akio Koizumi, Koji Abe. Neurology 2012
Yoshio Ikeda, Yasuyuki Ohta, Hatasu Kobayashi, Miyuki Okamoto, Kazuhiro Takamatsu, Taisei Ota, Yasuhiro Manabe, Koichi Okamoto, Akio Koizumi, Koji Abe. Neurology 2012
22
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
Chantal Sellier, Frédérique Rau, Yilei Liu, Flora Tassone, Renate K Hukema, Renata Gattoni, Anne Schneider, Stéphane Richard, Rob Willemsen, David J Elliott,[...]. EMBO J 2010
Chantal Sellier, Frédérique Rau, Yilei Liu, Flora Tassone, Renate K Hukema, Renata Gattoni, Anne Schneider, Stéphane Richard, Rob Willemsen, David J Elliott,[...]. EMBO J 2010
13
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
M D Lalioti, H S Scott, C Buresi, C Rossier, A Bottani, M A Morris, A Malafosse, S E Antonarakis. Nature 1997
M D Lalioti, H S Scott, C Buresi, C Rossier, A Bottani, M A Morris, A Malafosse, S E Antonarakis. Nature 1997
13
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
R J Hagerman, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman. Neurology 2001
R J Hagerman, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman. Neurology 2001
13
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
25
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P C Van de Warrenburg,[...]. Am J Hum Genet 2010
Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien Verschuuren-Bemelmans, Igor Bazov, Konstantin A Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P C Van de Warrenburg,[...]. Am J Hum Genet 2010
16
Cellular toxicity of expanded RNA repeats: focus on RNA foci.
Marzena Wojciechowska, Wlodzimierz J Krzyzosiak. Hum Mol Genet 2011
Marzena Wojciechowska, Wlodzimierz J Krzyzosiak. Hum Mol Genet 2011
12
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
Misti C White, Rui Gao, Weidong Xu, Santi M Mandal, Jung G Lim, Tapas K Hazra, Maki Wakamiya, Sharon F Edwards, Salmo Raskin, Hélio A G Teive,[...]. PLoS Genet 2010
Misti C White, Rui Gao, Weidong Xu, Santi M Mandal, Jung G Lim, Tapas K Hazra, Maki Wakamiya, Sharon F Edwards, Salmo Raskin, Hélio A G Teive,[...]. PLoS Genet 2010
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.