Hirofumi Maruyama, Yuishin Izumi, Hiroyuki Morino, Masaya Oda, Hiromasa Toji, Shigenobu Nakamura, Hideshi Kawakami. Am J Med Genet 2002
Times Cited: 73
Times Cited: 73
Times Cited
Times Co-cited
Similarity
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
36
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
31
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.
M L Moseley, K A Benzow, L J Schut, T D Bird, C M Gomez, P E Barkhaus, K A Blindauer, M Labuda, M Pandolfo, M D Koob,[...]. Neurology 1998
M L Moseley, K A Benzow, L J Schut, T D Bird, C M Gomez, P E Barkhaus, K A Blindauer, M Labuda, M Pandolfo, M D Koob,[...]. Neurology 1998
30
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
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
30
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
30
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?
L Schöls, G Amoiridis, T Büttner, H Przuntek, J T Epplen, O Riess. Ann Neurol 1997
L Schöls, G Amoiridis, T Büttner, H Przuntek, J T Epplen, O Riess. Ann Neurol 1997
28
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
M A Pujana, J Corral, M Gratacòs, O Combarros, J Berciano, D Genís, I Banchs, X Estivill, V Volpini. Hum Genet 1999
M A Pujana, J Corral, M Gratacòs, O Combarros, J Berciano, D Genís, I Banchs, X Estivill, V Volpini. Hum Genet 1999
27
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
B Tang, C Liu, L Shen, H Dai, Q Pan, L Jing, S Ouyang, J Xia. Arch Neurol 2000
B Tang, C Liu, L Shen, H Dai, Q Pan, L Jing, S Ouyang, J Xia. Arch Neurol 2000
27
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
26
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
26
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
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
21
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
21
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
20
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
W Soong B, C Lu Y, B Choo K, Y Lee H. Arch Neurol 2001
W Soong B, C Lu Y, B Choo K, Y Lee H. Arch Neurol 2001
25
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
20
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji. Hum Mol Genet 1999
R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji. Hum Mol Genet 1999
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
24
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
19
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).
Arndt Rolfs, Arnulf H Koeppen, Ingrid Bauer, Peter Bauer, Sven Buhlmann, Helge Topka, Ludger Schöls, Olaf Riess. Ann Neurol 2003
Arndt Rolfs, Arnulf H Koeppen, Ingrid Bauer, Peter Bauer, Sven Buhlmann, Helge Topka, Ludger Schöls, Olaf Riess. Ann Neurol 2003
17
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
16
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.
E Storey, D du Sart, J H Shaw, P Lorentzos, L Kelly, R J McKinley Gardner, S M Forrest, I Biros, G A Nicholson. Am J Med Genet 2000
E Storey, D du Sart, J H Shaw, P Lorentzos, L Kelly, R J McKinley Gardner, S M Forrest, I Biros, G A Nicholson. Am J Med Genet 2000
22
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
16
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
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
16
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
V Juvonen, M Hietala, V Kairisto, M-L Savontaus. Acta Neurol Scand 2005
V Juvonen, M Hietala, V Kairisto, M-L Savontaus. Acta Neurol Scand 2005
24
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
31
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.
J Vale, P Bugalho, I Silveira, J Sequeiros, J Guimarães, P Coutinho. Eur J Neurol 2010
J Vale, P Bugalho, I Silveira, J Sequeiros, J Guimarães, P Coutinho. Eur J Neurol 2010
29
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
15
Clinical and molecular features of spinocerebellar ataxia type 6.
G Stevanin, A Dürr, G David, O Didierjean, G Cancel, S Rivaud, A Tourbah, J M Warter, Y Agid, A Brice. Neurology 1997
G Stevanin, A Dürr, G David, O Didierjean, G Cancel, S Rivaud, A Tourbah, J M Warter, Y Agid, A Brice. Neurology 1997
15
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
K Ishikawa, H Tanaka, M Saito, N Ohkoshi, T Fujita, K Yoshizawa, T Ikeuchi, M Watanabe, A Hayashi, Y Takiyama,[...]. Am J Hum Genet 1997
K Ishikawa, H Tanaka, M Saito, N Ohkoshi, T Fujita, K Yoshizawa, T Ikeuchi, M Watanabe, A Hayashi, Y Takiyama,[...]. Am J Hum Genet 1997
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
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
L B Jardim, I Silveira, M L Pereira, A Ferro, I Alonso, M do Céu Moreira, P Mendonça, F Ferreirinha, J Sequeiros, R Giugliani. J Neurol 2001
L B Jardim, I Silveira, M L Pereira, A Ferro, I Alonso, M do Céu Moreira, P Mendonça, F Ferreirinha, J Sequeiros, R Giugliani. J Neurol 2001
17
Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia.
D K Jin, M R Oh, S M Song, S W Koh, M Lee, G M Kim, W Y Lee, C S Chung, K H Lee, J H Im,[...]. J Neurol 1999
D K Jin, M R Oh, S M Song, S W Koh, M Lee, G M Kim, W Y Lee, C S Chung, K H Lee, J H Im,[...]. J Neurol 1999
26
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
A Dürr, G Stevanin, G Cancel, C Duyckaerts, N Abbas, O Didierjean, H Chneiweiss, A Benomar, O Lyon-Caen, J Julien,[...]. Ann Neurol 1996
A Dürr, G Stevanin, G Cancel, C Duyckaerts, N Abbas, O Didierjean, H Chneiweiss, A Benomar, O Lyon-Caen, J Julien,[...]. Ann Neurol 1996
15
Epidemiology and clinical aspects of Machado-Joseph disease.
J Sequeiros, P Coutinho. Adv Neurol 1993
J Sequeiros, P Coutinho. Adv Neurol 1993
15
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
J Leggo, A Dalton, P J Morrison, A Dodge, M Connarty, M J Kotze, D C Rubinsztein. J Med Genet 1997
J Leggo, A Dalton, P J Morrison, A Dodge, M Connarty, M J Kotze, D C Rubinsztein. J Med Genet 1997
15
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
C M Gomez, R M Thompson, J T Gammack, S L Perlman, W B Dobyns, C L Truwit, D S Zee, H B Clark, J H Anderson. Ann Neurol 1997
C M Gomez, R M Thompson, J T Gammack, S L Perlman, W B Dobyns, C L Truwit, D S Zee, H B Clark, J H Anderson. Ann Neurol 1997
13
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
13
SCA17 homozygote showing Huntington's disease-like phenotype.
Yasuko Toyoshima, Mitsunori Yamada, Osamu Onodera, Mitsuteru Shimohata, Chikanori Inenaga, Nobuya Fujita, Masahiro Morita, Shoji Tsuji, Hitoshi Takahashi. Ann Neurol 2004
Yasuko Toyoshima, Mitsunori Yamada, Osamu Onodera, Mitsuteru Shimohata, Chikanori Inenaga, Nobuya Fujita, Masahiro Morita, Shoji Tsuji, Hitoshi Takahashi. Ann Neurol 2004
13
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.
R Matsumura, N Futamura, N Ando, S Ueno. Acta Neurol Scand 2003
R Matsumura, N Futamura, N Ando, S Ueno. Acta Neurol Scand 2003
43
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
13
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
13
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.
H Watanabe, F Tanaka, M Matsumoto, M Doyu, T Ando, T Mitsuma, G Sobue. Clin Genet 1998
H Watanabe, F Tanaka, M Matsumoto, M Doyu, T Ando, T Mitsuma, G Sobue. Clin Genet 1998
16
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
14
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.
U Nagaoka, M Takashima, K Ishikawa, K Yoshizawa, T Yoshizawa, M Ishikawa, T Yamawaki, S Shoji, H Mizusawa. Neurology 2000
U Nagaoka, M Takashima, K Ishikawa, K Yoshizawa, T Yoshizawa, M Ishikawa, T Yamawaki, S Shoji, H Mizusawa. Neurology 2000
15
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
12
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
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
12
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
L P Ranum, L J Schut, J K Lundgren, H T Orr, D M Livingston. Nat Genet 1994
L P Ranum, L J Schut, J K Lundgren, H T Orr, D M Livingston. Nat Genet 1994
12
Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.
Won Yong Lee, Dong Kyu Jin, Myung Ryurl Oh, Ji Eun Lee, Seng Mi Song, Eun Ah Lee, Gyeong-Moon Kim, Jin Sang Chung, Kwang Ho Lee. Arch Neurol 2003
Won Yong Lee, Dong Kyu Jin, Myung Ryurl Oh, Ji Eun Lee, Seng Mi Song, Eun Ah Lee, Gyeong-Moon Kim, Jin Sang Chung, Kwang Ho Lee. Arch Neurol 2003
14
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
18
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.