Yoichi Yamamoto, Masayuki Nakamori, Kuni Konaka, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Saburo Sakoda. J Neurol 2006
Times Cited: 10
Times Cited: 10
Times Cited
Times Co-cited
Similarity
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
Ghada El Euch-Fayache, Irfan Lalani, Rim Amouri, Ilhem Turki, Karim Ouahchi, Wu-Yen Hung, Samir Belal, Teepu Siddique, Faycal Hentati. Arch Neurol 2003
Ghada El Euch-Fayache, Irfan Lalani, Rim Amouri, Ilhem Turki, Karim Ouahchi, Wu-Yen Hung, Samir Belal, Teepu Siddique, Faycal Hentati. Arch Neurol 2003
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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
J C Engert, P Bérubé, J Mercier, C Doré, P Lepage, B Ge, J P Bouchard, J Mathieu, S B Melançon, M Schalling,[...]. Nat Genet 2000
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Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
Andrea M Richter, Riza Koksal Ozgul, Virginie C Poisson, Haluk Topaloglu. Neurogenetics 2004
Andrea M Richter, Riza Koksal Ozgul, Virginie C Poisson, Haluk Topaloglu. Neurogenetics 2004
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Identification of a SACS gene missense mutation in ARSACS.
T Ogawa, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa. Neurology 2004
T Ogawa, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa. Neurology 2004
70
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
Chiara Criscuolo, Francesco Saccà, Giuseppe De Michele, Pietro Mancini, Onofre Combarros, Jon Infante, Antonio Garcia, Sandro Banfi, Alessandro Filla, José Berciano. Mov Disord 2005
Chiara Criscuolo, Francesco Saccà, Giuseppe De Michele, Pietro Mancini, Onofre Combarros, Jon Infante, Antonio Garcia, Sandro Banfi, Alessandro Filla, José Berciano. Mov Disord 2005
70
A novel mutation in SACS gene in a family from southern Italy.
C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele,[...]. Neurology 2004
C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele,[...]. Neurology 2004
70
Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura, Masatoyo Nishizawa. Mov Disord 2005
Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura, Masatoyo Nishizawa. Mov Disord 2005
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A phenotype without spasticity in sacsin-related ataxia.
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
H Shimazaki, Y Takiyama, K Sakoe, Y Ando, I Nakano. Neurology 2005
60
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
G S Grieco, A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli,[...]. Neurology 2004
G S Grieco, A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli,[...]. Neurology 2004
60
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano. Neurology 2006
Y Ouyang, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano. Neurology 2006
50
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
S Okawa, M Sugawara, S Watanabe, T Imota, I Toyoshima. J Neurol Neurosurg Psychiatry 2006
S Okawa, M Sugawara, S Watanabe, T Imota, I Toyoshima. J Neurol Neurosurg Psychiatry 2006
50
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
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50
Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Y Ouyang, K Segers, O Bouquiaux, F C Wang, N Janin, C Andris, H Shimazaki, K Sakoe, I Nakano, Y Takiyama. J Neurol Sci 2008
Y Ouyang, K Segers, O Bouquiaux, F C Wang, N Janin, C Andris, H Shimazaki, K Sakoe, I Nakano, Y Takiyama. J Neurol Sci 2008
50
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.
Haruo Shimazaki, Kumi Sakoe, Kenji Niijima, Imaharu Nakano, Yoshihisa Takiyama. J Neurol Sci 2007
Haruo Shimazaki, Kumi Sakoe, Kenji Niijima, Imaharu Nakano, Yoshihisa Takiyama. J Neurol Sci 2007
40
Novel compound heterozygous mutations in sacsin-related ataxia.
Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda. J Neurol Sci 2005
Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda. J Neurol Sci 2005
40
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, Natalia V Prodromou, Tom R Webb, Jean-Marc Gallo, Michael E Cheetham, William S Nicoll, Gregory L Blatch, J Paul Chapple. Hum Mol Genet 2009
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
30
30
New mutation in the non-gigantic exon of SACS in Japanese siblings.
Yuhei Takado, Kenju Hara, Takayoshi Shimohata, Susumu Tokiguchi, Osamu Onodera, Masatoyo Nishizawa. Mov Disord 2007
Yuhei Takado, Kenju Hara, Takayoshi Shimohata, Susumu Tokiguchi, Osamu Onodera, Masatoyo Nishizawa. Mov Disord 2007
30
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.
N Mrissa, S Belal, C B Hamida, R Amouri, I Turki, R Mrissa, M B Hamida, F Hentati. Neurology 2000
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Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.
Laura Anesi, Paola de Gemmis, Massimo Pandolfo, Uros Hladnik. J Mol Neurosci 2011
Laura Anesi, Paola de Gemmis, Massimo Pandolfo, Uros Hladnik. J Mol Neurosci 2011
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An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Alessandra Terracciano, Carlo Casali, Gaetano S Grieco, Daniela Orteschi, Silvia Di Giandomenico, Laura Seminara, Roberto Di Fabio, Rosalba Carrozzo, Alessandro Simonati, Giovanni Stevanin,[...]. Neurogenetics 2009
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30
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Sascha Vermeer, Rowdy P P Meijer, Benjamin J Pijl, Janneke Timmermans, Johannes R M Cruysberg, Maaike M Bos, Helenius J Schelhaas, Bart P C van de Warrenburg, Nine V A M Knoers, Hans Scheffer,[...]. Neurogenetics 2008
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30
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
M De Braekeleer, F Giasson, J Mathieu, M Roy, J P Bouchard, K Morgan. Genet Epidemiol 1993
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20
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Stephan Klebe, Hamid Azzedine, Alexandra Durr, Patrick Bastien, Naima Bouslam, Nizar Elleuch, Sylvie Forlani, Celine Charon, Michel Koenig, Judith Melki,[...]. Brain 2006
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20
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Antoine Duquette, Katel Roddier, Julia McNabb-Baltar, Isabelle Gosselin, Anik St-Denis, Marie-Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu,[...]. Ann Neurol 2005
Antoine Duquette, Katel Roddier, Julia McNabb-Baltar, Isabelle Gosselin, Anik St-Denis, Marie-Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu,[...]. Ann Neurol 2005
20
Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population.
A Chiò, L Orsi, P Mortara, D Schiffer. Clin Genet 1993
A Chiò, L Orsi, P Mortara, D Schiffer. Clin Genet 1993
20
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
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The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study.
J M Peyronnard, L Charron, A Barbeau. Can J Neurol Sci 1979
J M Peyronnard, L Charron, A Barbeau. Can J Neurol Sci 1979
20
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui,[...]. Brain 2004
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui,[...]. Brain 2004
20
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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20
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
L Cavalier, K Ouahchi, H J Kayden, S Di Donato, L Reutenauer, J L Mandel, M Koenig. Am J Hum Genet 1998
L Cavalier, K Ouahchi, H J Kayden, S Di Donato, L Reutenauer, J L Mandel, M Koenig. Am J Hum Genet 1998
20
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Sascha Vermeer, Rowdy P P Meijer, Tom G J Hofste, Daniëlle Bodmer, Ermanno A J Bosgoed, Frans P M Cremers, Berry H P Kremer, Nine V A M Knoers, Hans Scheffer. J Mol Diagn 2009
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The sacsin repeating region (SRR): a novel Hsp90-related supra-domain associated with neurodegeneration.
John F Anderson, Efrain Siller, Jose M Barral. J Mol Biol 2010
John F Anderson, Efrain Siller, Jose M Barral. J Mol Biol 2010
20
Mutations in SACS cause atypical and late-onset forms of ARSACS.
J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, E Schmedding, P Santens, V Milic Rasic, P Van Damme,[...]. Neurology 2010
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20
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S McPherson, Bernard Brais, Kalle Gehring. J Biol Chem 2011
Guennadi Kozlov, Alexey Y Denisov, Martine Girard, Marie-Josée Dicaire, Jason Hamlin, Peter S McPherson, Bernard Brais, Kalle Gehring. J Biol Chem 2011
20
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus, Koenraad Devriendt. Eur J Hum Genet 2008
Jeroen Breckpot, Yoshihisa Takiyama, Bernard Thienpont, Steven Van Vooren, Joris Robert Vermeesch, Els Ortibus, Koenraad Devriendt. Eur J Hum Genet 2008
20
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].
M Anheim, D Chaigne, M Fleury, F M Santorelli, J De Sèze, A Durr, A Brice, M Koenig, C Tranchant. Rev Neurol (Paris) 2008
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Genetic consequences of differential demographic behaviour in the Saguenay region, Québec.
E Heyer. Am J Phys Anthropol 1995
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Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
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10
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
Michael A Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A Patton, Andrew H Crosby. Am J Hum Genet 2003
Michael A Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A Patton, Andrew H Crosby. Am J Hum Genet 2003
10
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.
Inge A Meijer, Patrick Cossette, Julie Roussel, Melanie Benard, Sylvie Toupin, Guy A Rouleau. Ann Neurol 2004
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10
Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.
M De Castro, A Cruz-Martínez, J J Vílchez, T Sevilla, M Pineda, J Berciano, F Palau. J Peripher Nerv Syst 1999
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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Philip A Wilkinson, Andrew H Crosby, Christopher Turner, Lloyd J Bradley, Lionel Ginsberg, Nicholas W Wood, Anthony H Schapira, Thomas T Warner. Brain 2004
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Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients.
G De Michele, P P Mainenti, A Soricelli, F Di Salle, E Salvatore, M R Longobardi, A Postiglione, M Salvatore, A Filla. J Neurol 1998
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Population history and its impact on medical genetics in Quebec.
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Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia.
T Klockgether, D Petersen, W Grodd, J Dichgans. Brain 1991
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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.