A E Harding. Brain 1982
Times Cited: 357
Times Cited: 357
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
37
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
25
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
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
18
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
17
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
16
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
16
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
16
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
15
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
14
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
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
13
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
13
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
13
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
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
13
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
13
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
12
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
11
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, Mingshun Li, Kazuhiro Kobayashi, Takanori Yokota, Takeshi Amino, Kiyoshi Owada, Hiroto Fujigasaki, Masaki Sakamoto,[...]. Am J Hum Genet 2005
Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, Mingshun Li, Kazuhiro Kobayashi, Takanori Yokota, Takeshi Amino, Kiyoshi Owada, Hiroto Fujigasaki, Masaki Sakamoto,[...]. Am J Hum Genet 2005
11
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
11
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
11
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
K Flanigan, K Gardner, K Alderson, B Galster, B Otterud, M F Leppert, C Kaplan, L J Ptácek. Am J Hum Genet 1996
11
11
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
11
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
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
11
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
11
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
Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera,[...]. Brain 2006
11
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
14
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
10
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
10
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
10
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
Guo-Yun Yu, Michael J Howell, Matthew J Roller, Ting-Dong Xie, Christopher M Gomez. Ann Neurol 2005
Guo-Yun Yu, Michael J Howell, Matthew J Roller, Ting-Dong Xie, Christopher M Gomez. Ann Neurol 2005
18
The natural history of degenerative ataxia: a retrospective study in 466 patients.
T Klockgether, R Lüdtke, B Kramer, M Abele, K Bürk, L Schöls, O Riess, F Laccone, S Boesch, I Lopes-Cendes,[...]. Brain 1998
T Klockgether, R Lüdtke, B Kramer, M Abele, K Bürk, L Schöls, O Riess, F Laccone, S Boesch, I Lopes-Cendes,[...]. Brain 1998
9
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
The olivopontocerebellar atrophies: a review.
B W Konigsmark, L P Weiner. Medicine (Baltimore) 1970
B W Konigsmark, L P Weiner. Medicine (Baltimore) 1970
9
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.
K Bürk, M Abele, M Fetter, J Dichgans, M Skalej, F Laccone, O Didierjean, A Brice, T Klockgether. Brain 1996
K Bürk, M Abele, M Fetter, J Dichgans, M Skalej, F Laccone, O Didierjean, A Brice, T Klockgether. Brain 1996
9
Peripheral nerve involvement in spinocerebellar ataxias.
Bart P C van de Warrenburg, Nicolette C Notermans, Helenius J Schelhaas, Nens van Alfen, Richard J Sinke, Nine V A M Knoers, Machiel J Zwarts, Berry P H Kremer. Arch Neurol 2004
Bart P C van de Warrenburg, Nicolette C Notermans, Helenius J Schelhaas, Nens van Alfen, Richard J Sinke, Nine V A M Knoers, Machiel J Zwarts, Berry P H Kremer. Arch Neurol 2004
11
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
9
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
L Schöls, R Krüger, G Amoiridis, H Przuntek, J T Epplen, O Riess. J Neurol Neurosurg Psychiatry 1998
L Schöls, R Krüger, G Amoiridis, H Przuntek, J T Epplen, O Riess. J Neurol Neurosurg Psychiatry 1998
9
Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.
K Bürk, C Globas, S Bösch, T Klockgether, C Zühlke, I Daum, J Dichgans. J Neurol 2003
K Bürk, C Globas, S Bösch, T Klockgether, C Zühlke, I Daum, J Dichgans. J Neurol 2003
9
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
9
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
8
Clinical features and genetic analysis of a new form of spinocerebellar ataxia.
D Devos, S Schraen-Maschke, I Vuillaume, K Dujardin, P Nazé, C Willoteaux, A Destée, B Sablonnière. Neurology 2001
D Devos, S Schraen-Maschke, I Vuillaume, K Dujardin, P Nazé, C Willoteaux, A Destée, B Sablonnière. Neurology 2001
15
The hereditary spinocerebellar ataxias in Japan.
H Sasaki, I Yabe, K Tashiro. Cytogenet Genome Res 2003
H Sasaki, I Yabe, K Tashiro. Cytogenet Genome Res 2003
21
8
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
Y Hellenbroich, S Bubel, H Pawlack, S Opitz, P Vieregge, E Schwinger, C Zühlke. J Neurol 2003
Y Hellenbroich, S Bubel, H Pawlack, S Opitz, P Vieregge, E Schwinger, C Zühlke. J Neurol 2003
23
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
15
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
Ichiro Yabe, Hidenao Sasaki, Dong-Hui Chen, Wendy H Raskind, Thomas D Bird, Isao Yamashita, Shoji Tsuji, Seiji Kikuchi, Kunio Tashiro. Arch Neurol 2003
Ichiro Yabe, Hidenao Sasaki, Dong-Hui Chen, Wendy H Raskind, Thomas D Bird, Isao Yamashita, Shoji Tsuji, Seiji Kikuchi, Kunio Tashiro. Arch Neurol 2003
9
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.