A Matilla-Dueñas, T Ashizawa, A Brice, S Magri, K N McFarland, M Pandolfo, S M Pulst, O Riess, D C Rubinsztein, J Schmidt, T Schmidt, D R Scoles, G Stevanin, F Taroni, B R Underwood, I Sánchez. Cerebellum 2014
Times Cited: 83
Times Cited: 83
Times Cited
Times Co-cited
Similarity
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
21
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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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
15
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
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15
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
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
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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
13
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
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Autosomal dominant cerebellar ataxias: a systematic review of clinical features.
M Rossi, S Perez-Lloret, L Doldan, D Cerquetti, J Balej, P Millar Vernetti, H Hawkes, A Cammarota, M Merello. Eur J Neurol 2014
M Rossi, S Perez-Lloret, L Doldan, D Cerquetti, J Balej, P Millar Vernetti, H Hawkes, A Cammarota, M Merello. Eur J Neurol 2014
14
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
Jing Liu, Tie-Shan Tang, Huiping Tu, Omar Nelson, Emily Herndon, Duong P Huynh, Stefan M Pulst, Ilya Bezprozvanny. J Neurosci 2009
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Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Deller. Prog Neurobiol 2013
Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Deller. Prog Neurobiol 2013
13
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
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12
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
12
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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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
10
Spectrin mutations cause spinocerebellar ataxia type 5.
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10
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.
Joshua Hersheson, Andrea Haworth, Henry Houlden. Hum Mutat 2012
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Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
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10
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
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10
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
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10
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.
D P Huynh, K Figueroa, N Hoang, S M Pulst. Nat Genet 2000
D P Huynh, K Figueroa, N Hoang, S M Pulst. Nat Genet 2000
10
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
Brent L Fogel, Sonya M Hanson, Esther B E Becker. Mov Disord 2015
Brent L Fogel, Sonya M Hanson, Esther B E Becker. Mov Disord 2015
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Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
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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
9
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
Heliane G Serra, Courtney E Byam, Jeffrey D Lande, Susan K Tousey, Huda Y Zoghbi, Harry T Orr. Hum Mol Genet 2004
9
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Anna Duarri, Justyna Jezierska, Michiel Fokkens, Michel Meijer, Helenius J Schelhaas, Wilfred F A den Dunnen, Freerk van Dijk, Corien Verschuuren-Bemelmans, Gerard Hageman, Pieter van de Vlies,[...]. Ann Neurol 2012
Anna Duarri, Justyna Jezierska, Michiel Fokkens, Michel Meijer, Helenius J Schelhaas, Wilfred F A den Dunnen, Freerk van Dijk, Corien Verschuuren-Bemelmans, Gerard Hageman, Pieter van de Vlies,[...]. Ann Neurol 2012
9
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Andrew C Elden, Hyung-Jun Kim, Michael P Hart, Alice S Chen-Plotkin, Brian S Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu,[...]. Nature 2010
Andrew C Elden, Hyung-Jun Kim, Michael P Hart, Alice S Chen-Plotkin, Brian S Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu,[...]. Nature 2010
9
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
9
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
Xi Chen, Tie-Shan Tang, Huiping Tu, Omar Nelson, Mark Pook, Robert Hammer, Nobuyuki Nukina, Ilya Bezprozvanny. J Neurosci 2008
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Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
Adebimpe Kasumu, Ilya Bezprozvanny. Cerebellum 2012
Adebimpe Kasumu, Ilya Bezprozvanny. Cerebellum 2012
9
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.
E N Burright, H B Clark, A Servadio, T Matilla, R M Feddersen, W S Yunis, L A Duvick, H Y Zoghbi, H T Orr. Cell 1995
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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong,[...]. J Med Genet 2014
Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong,[...]. J Med Genet 2014
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The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Katherine E Hekman, Christopher M Gomez. J Neurol Neurosurg Psychiatry 2015
Katherine E Hekman, Christopher M Gomez. J Neurol Neurosurg Psychiatry 2015
29
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
Philipp Koch, Peter Breuer, Michael Peitz, Johannes Jungverdorben, Jaideep Kesavan, Daniel Poppe, Jonas Doerr, Julia Ladewig, Jerome Mertens, Thomas Tüting,[...]. Nature 2011
Philipp Koch, Peter Breuer, Michael Peitz, Johannes Jungverdorben, Jaideep Kesavan, Daniel Poppe, Jonas Doerr, Julia Ladewig, Jerome Mertens, Thomas Tüting,[...]. Nature 2011
9
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto,[...]. Am J Hum Genet 2015
Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto,[...]. Am J Hum Genet 2015
13
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis,[...]. Nature 2017
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis,[...]. Nature 2017
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Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
9
Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation.
An-Hsun Chou, Tu-Hsueh Yeh, Pin Ouyang, Ying-Ling Chen, Si-Ying Chen, Hung-Li Wang. Neurobiol Dis 2008
An-Hsun Chou, Tu-Hsueh Yeh, Pin Ouyang, Ying-Ling Chen, Si-Ying Chen, Hung-Li Wang. Neurobiol Dis 2008
8
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Jun Ling Wang, Xu Yang, Kun Xia, Zheng Mao Hu, Ling Weng, Xin Jin, Hong Jiang, Peng Zhang, Lu Shen, Ji Feng Guo,[...]. Brain 2010
Jun Ling Wang, Xu Yang, Kun Xia, Zheng Mao Hu, Ling Weng, Xin Jin, Hong Jiang, Peng Zhang, Lu Shen, Ji Feng Guo,[...]. Brain 2010
8
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark,[...]. Hum Mol Genet 2012
Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark,[...]. Hum Mol Genet 2012
18
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Maxime Cadieux-Dion, Maude Turcotte-Gauthier, Anne Noreau, Caroline Martin, Caroline Meloche, Micheline Gravel, Christian Allen Drouin, Guy A Rouleau, Dang Khoa Nguyen, Patrick Cossette. JAMA Neurol 2014
Maxime Cadieux-Dion, Maude Turcotte-Gauthier, Anne Noreau, Caroline Martin, Caroline Meloche, Micheline Gravel, Christian Allen Drouin, Guy A Rouleau, Dang Khoa Nguyen, Patrick Cossette. JAMA Neurol 2014
10
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
8
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
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
8
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
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8
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Xiaofei Du, Jun Wang, Haipeng Zhu, Lorenzo Rinaldo, Kay-Marie Lamar, Ann C Palmenberg, Christian Hansel, Christopher M Gomez. Cell 2013
Xiaofei Du, Jun Wang, Haipeng Zhu, Lorenzo Rinaldo, Kay-Marie Lamar, Ann C Palmenberg, Christian Hansel, Christopher M Gomez. Cell 2013
8
8
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
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8
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
Stephen T Hansen, Pratap Meera, Thomas S Otis, Stefan M Pulst. Hum Mol Genet 2013
8
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
Karen R Armbrust, Xinming Wang, Tyisha J Hathorn, Samuel W Cramer, Gang Chen, Tao Zu, Takashi Kangas, Anastasia N Zink, Gülin Öz, Timothy J Ebner,[...]. J Neurosci 2014
Karen R Armbrust, Xinming Wang, Tyisha J Hathorn, Samuel W Cramer, Gang Chen, Tao Zu, Takashi Kangas, Anastasia N Zink, Gülin Öz, Timothy J Ebner,[...]. J Neurosci 2014
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ELOVL5 mutations cause spinocerebellar ataxia 38.
Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia,[...]. Am J Hum Genet 2014
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12
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.