Mohammed Faruq, Vinod Scaria, Inder Singh, Shivani Tyagi, Achal K Srivastava, Mitali Mukerji. Hum Mutat 2009
Times Cited: 20
Times Cited: 20
Times Cited
Times Co-cited
Similarity
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
40
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
Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, Caterina Mariotti, Nicola Migone, Stefano Di Donato,[...]. Arch Neurol 2004
30
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
30
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
25
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
25
Evidence of a common founder for SCA12 in the Indian population.
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,[...]. Ann Hum Genet 2005
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,[...]. Ann Hum Genet 2005
25
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.
J Jonasson, V Juvonen, P Sistonen, J Ignatius, D Johansson, E J Björck, J Wahlström, A Melberg, G Holmgren, L Forsgren,[...]. Eur J Hum Genet 2000
J Jonasson, V Juvonen, P Sistonen, J Ignatius, D Johansson, E J Björck, J Wahlström, A Melberg, G Holmgren, L Forsgren,[...]. Eur J Hum Genet 2000
20
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
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
20
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
Stefan-M Pulst, Nieves Santos, Dai Wang, Huiying Yang, Duong Huynh, Luis Velazquez, K Pattie Figueroa. Brain 2005
Stefan-M Pulst, Nieves Santos, Dai Wang, Huiying Yang, Duong Huynh, Luis Velazquez, K Pattie Figueroa. Brain 2005
20
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.
G Orozco, R Estrada, T L Perry, J Araña, R Fernandez, A Gonzalez-Quevedo, J Galarraga, S Hansen. J Neurol Sci 1989
G Orozco, R Estrada, T L Perry, J Araña, R Fernandez, A Gonzalez-Quevedo, J Galarraga, S Hansen. J Neurol Sci 1989
20
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
20
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
20
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
The hereditary adult-onset ataxias in South Africa.
Alan Bryer, Amanda Krause, Pierre Bill, Virginia Davids, Daphne Bryant, James Butler, Jeannine Heckmann, Rajkumar Ramesar, Jacquie Greenberg. J Neurol Sci 2003
Alan Bryer, Amanda Krause, Pierre Bill, Virginia Davids, Daphne Bryant, James Butler, Jeannine Heckmann, Rajkumar Ramesar, Jacquie Greenberg. J Neurol Sci 2003
20
Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.
Luis Velázquez Pérez, Gilberto Sánchez Cruz, Nieves Santos Falcón, Luis Enrique Almaguer Mederos, Karel Escalona Batallan, Roberto Rodríguez Labrada, Milena Paneque Herrera, José Miguel Laffita Mesa, Julio C Rodríguez Díaz, Raúl Aguilera Rodríguez,[...]. Neurosci Lett 2009
Luis Velázquez Pérez, Gilberto Sánchez Cruz, Nieves Santos Falcón, Luis Enrique Almaguer Mederos, Karel Escalona Batallan, Roberto Rodríguez Labrada, Milena Paneque Herrera, José Miguel Laffita Mesa, Julio C Rodríguez Díaz, Raúl Aguilera Rodríguez,[...]. Neurosci Lett 2009
20
15
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.
K Bürk, M Fetter, M Abele, F Laccone, A Brice, J Dichgans, T Klockgether. J Neurol 1999
K Bürk, M Fetter, M Abele, F Laccone, A Brice, J Dichgans, T Klockgether. J Neurol 1999
15
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
T Schmitz-Hübsch, M Coudert, P Bauer, P Giunti, C Globas, L Baliko, A Filla, C Mariotti, M Rakowicz, P Charles,[...]. Neurology 2008
T Schmitz-Hübsch, M Coudert, P Bauer, P Giunti, C Globas, L Baliko, A Filla, C Mariotti, M Rakowicz, P Charles,[...]. Neurology 2008
15
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
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
15
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
G David, A Dürr, G Stevanin, G Cancel, N Abbas, A Benomar, S Belal, A S Lebre, M Abada-Bendib, D Grid,[...]. Hum Mol Genet 1998
G David, A Dürr, G Stevanin, G Cancel, N Abbas, A Benomar, S Belal, A S Lebre, M Abada-Bendib, D Grid,[...]. Hum Mol Genet 1998
15
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.
Uma Mittal, Sanghamitra Roy, Satish Jain, Achal K Srivastava, Mitali Mukerji. J Hum Genet 2005
Uma Mittal, Sanghamitra Roy, Satish Jain, Achal K Srivastava, Mitali Mukerji. J Hum Genet 2005
17
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
15
Cognitive deficits in spinocerebellar ataxia 2.
K Bürk, C Globas, S Bösch, S Gräber, M Abele, A Brice, J Dichgans, I Daum, T Klockgether. Brain 1999
K Bürk, C Globas, S Bösch, S Gräber, M Abele, A Brice, J Dichgans, I Daum, T Klockgether. Brain 1999
15
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
15
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
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
15
Molecular pathogenesis of spinocerebellar ataxias.
Antoni Matilla Dueñas, Robert Goold, Paola Giunti. Brain 2006
Antoni Matilla Dueñas, Robert Goold, Paola Giunti. Brain 2006
15
Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths.
M Netravathi, Pramod Kumar Pal, Meera Purushottam, Kandavel Thennarasu, Mitali Mukherjee, Sanjeev Jain. J Neurol Sci 2009
M Netravathi, Pramod Kumar Pal, Meera Purushottam, Kandavel Thennarasu, Mitali Mukherjee, Sanjeev Jain. J Neurol Sci 2009
21
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
Q Saleem, S Choudhry, M Mukerji, L Bashyam, M V Padma, A Chakravarthy, M C Maheshwari, S Jain, S K Brahmachari. Hum Genet 2000
15
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
15
A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.
N Wadia, J Pang, J Desai, A Mankodi, M Desai, S Chamberlain. Brain 1998
N Wadia, J Pang, J Desai, A Mankodi, M Desai, S Chamberlain. Brain 1998
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
15
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
15
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
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
15
Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
Elisa Alonso, Leticia Martínez-Ruano, Irene De Biase, Christopher Mader, Adriana Ochoa, Petra Yescas, Roxana Gutiérrez, Misti White, Luís Ruano, Marcela Fragoso-Benítez,[...]. Mov Disord 2007
Elisa Alonso, Leticia Martínez-Ruano, Irene De Biase, Christopher Mader, Adriana Ochoa, Petra Yescas, Roxana Gutiérrez, Misti White, Luís Ruano, Marcela Fragoso-Benítez,[...]. Mov Disord 2007
15
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, Peter Bauer, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Anna Sulek, Alexandra Durr, Perrine Charles,[...]. Lancet Neurol 2013
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, Peter Bauer, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Anna Sulek, Alexandra Durr, Perrine Charles,[...]. Lancet Neurol 2013
15
Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study.
Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Jacqueline Medrano Montero, Gilberto Sánchez-Cruz, Raúl Aguilera-Rodríguez, Luis E Almaguer-Mederos, José M Laffita-Mesa. Lancet Neurol 2014
Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Jacqueline Medrano Montero, Gilberto Sánchez-Cruz, Raúl Aguilera-Rodríguez, Luis E Almaguer-Mederos, José M Laffita-Mesa. Lancet Neurol 2014
15
Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.
G Auburger, G O Diaz, R F Capote, S G Sanchez, M P Perez, M E del Cueto, M G Meneses, M Farrall, R Williamson, S Chamberlain. Am J Hum Genet 1990
G Auburger, G O Diaz, R F Capote, S G Sanchez, M P Perez, M E del Cueto, M G Meneses, M Farrall, R Williamson, S Chamberlain. Am J Hum Genet 1990
15
Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2).
K Gierga, K Bürk, M Bauer, G Orozco Diaz, G Auburger, C Schultz, M Vuksic, L Schöls, R A I de Vos, H Braak,[...]. Acta Neuropathol 2005
K Gierga, K Bürk, M Bauer, G Orozco Diaz, G Auburger, C Schultz, M Vuksic, L Schöls, R A I de Vos, H Braak,[...]. Acta Neuropathol 2005
15
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
15
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
Claudia Cagnoli, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L Margolis, Susan E Holmes, Cinzia Gellera, Nicola Migone, Alfredo Brusco. J Mol Diagn 2004
Claudia Cagnoli, Chiara Michielotto, Tohru Matsuura, Tetsuo Ashizawa, Russell L Margolis, Susan E Holmes, Cinzia Gellera, Nicola Migone, Alfredo Brusco. J Mol Diagn 2004
10
Molecular analysis of Friedreich's ataxia locus in the Indian population.
M Mukerji, S Choudhry, Q Saleem, M V Padma, M C Maheshwari, S Jain. Acta Neurol Scand 2000
M Mukerji, S Choudhry, Q Saleem, M V Padma, M C Maheshwari, S Jain. Acta Neurol Scand 2000
20
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
I Silveira, C Miranda, L Guimarães, M-C Moreira, I Alonso, P Mendonça, A Ferro, J Pinto-Basto, J Coelho, F Ferreirinha,[...]. Arch Neurol 2002
I Silveira, C Miranda, L Guimarães, M-C Moreira, I Alonso, P Mendonça, A Ferro, J Pinto-Basto, J Coelho, F Ferreirinha,[...]. Arch Neurol 2002
10
10
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.
A E Harding. Brain 1982
A E Harding. Brain 1982
10
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
10
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
G Cancel, A Dürr, O Didierjean, G Imbert, K Bürk, A Lezin, S Belal, A Benomar, M Abada-Bendib, C Vial,[...]. Hum Mol Genet 1997
G Cancel, A Dürr, O Didierjean, G Imbert, K Bürk, A Lezin, S Belal, A Benomar, M Abada-Bendib, C Vial,[...]. Hum Mol Genet 1997
10
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study.
L Guerrini, F Lolli, A Ginestroni, G Belli, R Della Nave, C Tessa, S Foresti, M Cosottini, S Piacentini, F Salvi,[...]. Brain 2004
L Guerrini, F Lolli, A Ginestroni, G Belli, R Della Nave, C Tessa, S Foresti, M Cosottini, S Piacentini, F Salvi,[...]. Brain 2004
10
Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.
Oh Young Bang, Kyoon Huh, Phil Hyu Lee, Hyon J Kim. Arch Neurol 2003
Oh Young Bang, Kyoon Huh, Phil Hyu Lee, Hyon J Kim. Arch Neurol 2003
10
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.
C S Benton, R de Silva, S L Rutledge, S Bohlega, T Ashizawa, H Y Zoghbi. Neurology 1998
C S Benton, R de Silva, S L Rutledge, S Bohlega, T Ashizawa, H Y Zoghbi. Neurology 1998
10
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
P Giunti, G Stevanin, P F Worth, G David, A Brice, N W Wood. Am J Hum Genet 1999
P Giunti, G Stevanin, P F Worth, G David, A Brice, N W Wood. Am J Hum Genet 1999
10
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.