S Bahl, K Virdi, U Mittal, M P Sachdeva, A K Kalla, S E Holmes, E O'Hearn, R L Margolis, S Jain, A K Srivastava, M Mukerji. Ann Hum Genet 2005
Times Cited: 42
Times Cited: 42
Times Cited
Times Co-cited
Similarity
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
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Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12.
A K Srivastava, S Choudhry, M S Gopinath, S Roy, M Tripathi, S K Brahmachari, S Jain. Ann Neurol 2001
A K Srivastava, S Choudhry, M S Gopinath, S Roy, M Tripathi, S K Brahmachari, S Jain. Ann Neurol 2001
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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.
H Fujigasaki, I C Verma, A Camuzat, R L Margolis, C Zander, A S Lebre, L Jamot, R Saxena, I Anand, S E Holmes,[...]. Ann Neurol 2001
H Fujigasaki, I C Verma, A Camuzat, R L Margolis, C Zander, A S Lebre, L Jamot, R Saxena, I Anand, S E Holmes,[...]. Ann Neurol 2001
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SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.
E O'Hearn, S E Holmes, P C Calvert, C A Ross, R L Margolis. Neurology 2001
E O'Hearn, S E Holmes, P C Calvert, C A Ross, R L Margolis. Neurology 2001
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Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.
K K Sinha, P F Worth, D K Jha, S Sinha, V J Stinton, M B Davis, N W Wood, M G Sweeney, K P Bhatia. J Neurol Neurosurg Psychiatry 2004
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Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease.
Y Hellenbroich, W Schulz-Schaeffer, M F Nitschke, J Köhnke, G Händler, K Bürk, E Schwinger, C Zühlke. J Neurol Neurosurg Psychiatry 2004
Y Hellenbroich, W Schulz-Schaeffer, M F Nitschke, J Köhnke, G Händler, K Bürk, E Schwinger, C Zühlke. J Neurol Neurosurg Psychiatry 2004
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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Alessandro Brussino, Claudio Graziano, Dario Giobbe, Marina Ferrone, Elisa Dragone, Carlo Arduino, Raffaele Lodi, Caterina Tonon, Anna Gabellini, Rita Rinaldi,[...]. Mov Disord 2010
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Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.
Y Zhao, E K Tan, H Y Law, C S Yoon, M C Wong, I Ng. Clin Genet 2002
Y Zhao, E K Tan, H Y Law, C S Yoon, M C Wong, I Ng. Clin Genet 2002
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SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia.
S E Holmes, E O Hearn, C A Ross, R L Margolis. Brain Res Bull 2001
S E Holmes, E O Hearn, C A Ross, R L Margolis. Brain Res Bull 2001
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Why is SCA12 different from other SCAs?
S E Holmes, E O'Hearn, R L Margolis. Cytogenet Genome Res 2003
S E Holmes, E O'Hearn, R L Margolis. Cytogenet Genome Res 2003
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Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.
Q Saleem, S Choudhry, M Mukerji, L Bashyam, M V Padma, A Chakravarthy, M C Maheshwari, S Jain, S K Brahmachari. Hum Genet 2000
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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
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19
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
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
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19
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
H Takano, G Cancel, T Ikeuchi, D Lorenzetti, R Mawad, G Stevanin, O Didierjean, A Dürr, M Oyake, T Shimohata,[...]. Am J Hum Genet 1998
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Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India.
P Basu, B Chattopadhyay, P K Gangopadhaya, S C Mukherjee, K K Sinha, S K Das, S Roychoudhury, P P Majumder, N P Bhattacharyya. Hum Genet 2000
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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
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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
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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
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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
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Molecular pathogenesis of spinocerebellar ataxias.
Antoni Matilla Dueñas, Robert Goold, Paola Giunti. Brain 2006
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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
B P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, H Scheffer, E R Brunt, P F Ippel, J A Maat-Kievit, D Dooijes, N C Notermans, D Lindhout,[...]. Neurology 2002
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Spinocerebellar ataxia type 12.
Elizabeth O'Hearn, Susan E Holmes, Russell L Margolis. Handb Clin Neurol 2012
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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
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Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.
Yi Dong, Jian-Jun Wu, Zhi-Ying Wu. Parkinsonism Relat Disord 2015
Yi Dong, Jian-Jun Wu, Zhi-Ying Wu. Parkinsonism Relat Disord 2015
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Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B.
Achal K Srivastava, Amit Takkar, Ajay Garg, Mohammed Faruq. Brain 2017
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CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.
S Choudhry, M Mukerji, A K Srivastava, S Jain, S K Brahmachari. Hum Mol Genet 2001
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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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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera,[...]. Brain 2006
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Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.
Hirofumi Maruyama, Yuishin Izumi, Hiroyuki Morino, Masaya Oda, Hiromasa Toji, Shigenobu Nakamura, Hideshi Kawakami. Am J Med Genet 2002
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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
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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
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New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis,[...]. Ann Neurol 2005
Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis,[...]. Ann Neurol 2005
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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
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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
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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
Melanie A Knight, R J McKinlay Gardner, Melanie Bahlo, Tohru Matsuura, Judith A Dixon, Susan M Forrest, Elsdon Storey. Brain 2004
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Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.
K Flanigan, K Gardner, K Alderson, B Galster, B Otterud, M F Leppert, C Kaplan, L J Ptácek. Am J Hum Genet 1996
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A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
Ming-Yi Chung, Yi-Chun Lu, Nai-Chia Cheng, Bing-Wen Soong. Brain 2003
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A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
Isabelle Vuillaume, David Devos, Susanna Schraen-Maschke, Christian Dina, Arnaud Lemainque, Francis Vasseur, Guy Bocquillon, Patrick Devos, Carole Kocinski, Christiane Marzys,[...]. Ann Neurol 2002
Isabelle Vuillaume, David Devos, Susanna Schraen-Maschke, Christian Dina, Arnaud Lemainque, Francis Vasseur, Guy Bocquillon, Patrick Devos, Carole Kocinski, Christiane Marzys,[...]. Ann Neurol 2002
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Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state.
A Chakravarty, S C Mukherjee. Acta Neurol Scand 2002
A Chakravarty, S C Mukherjee. Acta Neurol Scand 2002
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Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform.
R E Mayer, P Hendrix, P Cron, R Matthies, S R Stone, J Goris, W Merlevede, J Hofsteenge, B A Hemmings. Biochemistry 1991
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SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India.
Nithin Krishna, Surendra Mohan, B S Yashavantha, A Rammurthy, H B Kiran Kumar, Uma Mittal, Shivani Tyagi, Mitali Mukerji, Sanjeev Jain, Pramod Kumar Pal,[...]. Indian J Med Res 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
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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
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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, Caterina Mariotti, Nicola Migone, Stefano Di Donato,[...]. Arch Neurol 2004
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Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.
Hong Jiang, Beisha Tang, Kun Xia, Yongxin Zhou, Bo Xu, Guohua Zhao, Haiyan Li, Lu Shen, Qian Pan, Fang Cai. J Neurol Sci 2005
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Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
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14
The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.
Chih-Hsin Lin, Chiung-Mei Chen, Yi-Ting Hou, Yih-Ru Wu, Hsiu-Mei Hsieh-Li, Ming-Tsan Su, Guey-Jen Lee-Chen. Hum Genet 2010
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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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Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
Hiroaki Nozaki, Takeshi Ikeuchi, Akio Kawakami, Akio Kimura, Reiji Koide, Miyuki Tsuchiya, Yuusaku Nakmura, Tatsuro Mutoh, Hiroko Yamamoto, Naoki Nakao,[...]. Mov Disord 2007
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21
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.