A Richter, J D Rioux, J P Bouchard, J Mercier, J Mathieu, B Ge, J Poirier, D Julien, G Gyapay, J Weissenbach, T J Hudson, S B Melançon, K Morgan. Am J Hum Genet 1999
Times Cited: 60
Times Cited: 60
Times Cited
Times Co-cited
Similarity
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
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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Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1978
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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
M De Braekeleer, F Giasson, J Mathieu, M Roy, J P Bouchard, K Morgan. Genet Epidemiol 1993
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
J P Bouchard, A Richter, J Mathieu, D Brunet, T J Hudson, K Morgan, S B Melançon. Neuromuscul Disord 1998
40
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
40
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
N Mrissa, S Belal, C B Hamida, R Amouri, I Turki, R Mrissa, M B Hamida, F Hentati. Neurology 2000
38
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
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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
31
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
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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
32
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
K Gücüyener, K Ozgül, C Paternotte, H Erdem, J F Prud'homme, M Ozgüç, H Topaloğlu. Neuropediatrics 2001
K Gücüyener, K Ozgül, C Paternotte, H Erdem, J F Prud'homme, M Ozgüç, H Topaloğlu. Neuropediatrics 2001
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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
35
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
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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
25
The neuropathy of Charlevoix-Saguenay ataxia: an electrophysiological and pathological study.
J M Peyronnard, L Charron, A Barbeau. Can J Neurol Sci 1979
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32
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1979
J P Bouchard, A Barbeau, R Bouchard, R W Bouchard. Can J Neurol Sci 1979
22
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.
J C Engert, C Doré, J Mercier, B Ge, C Bétard, J D Rioux, C Owen, P Bérubé, K Devon, B Birren,[...]. Genomics 1999
J C Engert, C Doré, J Mercier, B Ge, C Bétard, J D Rioux, C Owen, P Bérubé, K Devon, B Birren,[...]. Genomics 1999
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig. N Engl J Med 1996
13
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
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
13
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
R W Bouchard, J P Bouchard, R Bouchard, A Barbeau. Can J Neurol Sci 1979
R W Bouchard, J P Bouchard, R Bouchard, A Barbeau. Can J Neurol Sci 1979
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11
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.
M Labuda, D Labuda, M Korab-Laskowska, D E Cole, E Zietkiewicz, J Weissenbach, E Popowska, E Pronicka, A W Root, F H Glorieux. Am J Hum Genet 1996
M Labuda, D Labuda, M Korab-Laskowska, D E Cole, E Zietkiewicz, J Weissenbach, E Popowska, E Pronicka, A W Root, F H Glorieux. Am J Hum Genet 1996
11
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls,[...]. Nat Genet 2004
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls,[...]. Nat Genet 2004
11
11
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
22
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
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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
J Hästbacka, A de la Chapelle, I Kaitila, P Sistonen, A Weaver, E Lander. Nat Genet 1992
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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
K Ouahchi, M Arita, H Kayden, F Hentati, M Ben Hamida, R Sokol, H Arai, K Inoue, J L Mandel, M Koenig. Nat Genet 1995
K Ouahchi, M Arita, H Kayden, F Hentati, M Ben Hamida, R Sokol, H Arai, K Inoue, J L Mandel, M Koenig. Nat Genet 1995
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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
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[Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case].
I Pascual-Castroviejo, S I Pascual-Pascual, J Viaño, V Martínez. Rev Neurol 2000
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.
M-H Martin, J-P Bouchard, M Sylvain, O St-Onge, S Truchon. AJNR Am J Neuroradiol 2007
M-H Martin, J-P Bouchard, M Sylvain, O St-Onge, S Truchon. AJNR Am J Neuroradiol 2007
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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
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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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn,[...]. Orphanet J Rare Dis 2013
Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, Julia Schicks, Kathrin N Karle, Rebecca Schüle, Tobias B Haack, Martin Schöning, Saskia Biskup, Sabine Rudnik-Schöneborn,[...]. Orphanet J Rare Dis 2013
10
One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada).
E Heyer. Hum Biol 1999
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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
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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
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Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
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Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.
T Gotoda, M Arita, H Arai, K Inoue, T Yokota, Y Fukuo, Y Yazaki, N Yamada. N Engl J Med 1995
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Variability of the genetic contribution of Quebec population founders associated to some deleterious genes.
E Heyer, M Tremblay. Am J Hum Genet 1995
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Genetic consequences of differential demographic behaviour in the Saguenay region, Québec.
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Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.
A E Harding. J Neurol Neurosurg Psychiatry 1981
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Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.
D Sharp, L Blinderman, K A Combs, B Kienzle, B Ricci, K Wager-Smith, C M Gil, C W Turck, M E Bouma, D J Rader. Nature 1993
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Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
M Ben Hamida, S Belal, G Sirugo, C Ben Hamida, K Panayides, P Ionannou, J Beckmann, J L Mandel, F Hentati, M Koenig. Neurology 1993
M Ben Hamida, S Belal, G Sirugo, C Ben Hamida, K Panayides, P Ionannou, J Beckmann, J L Mandel, F Hentati, M Koenig. Neurology 1993
8
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Hiroshi Takashima, Cornelius F Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A M Salih, Dawna Armstrong, Yuxin Mao, Florante A Quiocho, Benjamin B Roa, Masanori Nakagawa,[...]. Nat Genet 2002
Hiroshi Takashima, Cornelius F Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A M Salih, Dawna Armstrong, Yuxin Mao, Florante A Quiocho, Benjamin B Roa, Masanori Nakagawa,[...]. Nat Genet 2002
8
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
C Barbot, P Coutinho, R Chorão, C Ferreira, J Barros, I Fineza, K Dias, J Monteiro, A Guimarães, P Mendonça,[...]. Arch Neurol 2001
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8
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
G S Stewart, R S Maser, T Stankovic, D A Bressan, M I Kaplan, N G Jaspers, A Raams, P J Byrd, J H Petrini, A M Taylor. Cell 1999
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8
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
8
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.