Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dürr. Brain 2004
Times Cited: 137
Times Cited: 137
Times Cited
Times Co-cited
Similarity
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
56
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik,[...]. Brain 2009
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik,[...]. Brain 2009
45
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, G S Grieco, M Piane, F Barbieri, G De Michele, S Banfi,[...]. Neurology 2006
C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, G S Grieco, M Piane, F Barbieri, G De Michele, S Banfi,[...]. Neurology 2006
45
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay,[...]. Brain 2003
Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay,[...]. Brain 2003
39
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa,[...]. J Cell Biol 2007
Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa,[...]. J Cell Biol 2007
31
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
M C Moreira, C Barbot, N Tachi, N Kozuka, E Uchida, T Gibson, P Mendonça, M Costa, J Barros, T Yanagisawa,[...]. Nat Genet 2001
M C Moreira, C Barbot, N Tachi, N Kozuka, E Uchida, T Gibson, P Mendonça, M Costa, J Barros, T Yanagisawa,[...]. Nat Genet 2001
30
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
H Date, O Onodera, H Tanaka, K Iwabuchi, K Uekawa, S Igarashi, R Koike, T Hiroi, T Yuasa, Y Awaya,[...]. Nat Genet 2001
H Date, O Onodera, H Tanaka, K Iwabuchi, K Uekawa, S Igarashi, R Koike, T Hiroi, T Yuasa, Y Awaya,[...]. Nat Genet 2001
28
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
M Tazir, L Ali-Pacha, A M'Zahem, J P Delaunoy, M Fritsch, S Nouioua, T Benhassine, S Assami, D Grid, J M Vallat,[...]. J Neurol Sci 2009
M Tazir, L Ali-Pacha, A M'Zahem, J P Delaunoy, M Fritsch, S Nouioua, T Benhassine, S Assami, D Grid, J M Vallat,[...]. J Neurol Sci 2009
63
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, Ian P Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L Kennerson, Bruce A Rabin,[...]. Am J Hum Genet 2004
Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, Ian P Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina L Kennerson, Bruce A Rabin,[...]. Am J Hum Genet 2004
26
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
31
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Brent L Fogel, Susan Perlman. Lancet Neurol 2007
Brent L Fogel, Susan Perlman. Lancet Neurol 2007
21
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchant. Arch Neurol 2008
Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchant. Arch Neurol 2008
60
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
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
20
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
A H Németh, E Bochukova, E Dunne, S M Huson, J Elston, M A Hannan, M Jackson, C J Chapman, A M Taylor. Am J Hum Genet 2000
A H Németh, E Bochukova, E Dunne, S M Huson, J Elston, M A Hannan, M Jackson, C J Chapman, A M Taylor. Am J Hum Genet 2000
26
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
18
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Ying-Zhang Chen, Sayed H Hashemi, Susan K Anderson, Yongzhao Huang, Maria-Ceu Moreira, David R Lynch, Ian A Glass, Phillip F Chance, Craig L Bennett. Neurobiol Dis 2006
Ying-Zhang Chen, Sayed H Hashemi, Susan K Anderson, Yongzhao Huang, Maria-Ceu Moreira, David R Lynch, Ian A Glass, Phillip F Chance, Craig L Bennett. Neurobiol Dis 2006
21
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W Birrell, Talat Nasim, Olivier J Becherel, Martin F Lavin. Hum Mol Genet 2009
Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W Birrell, Talat Nasim, Olivier J Becherel, Martin F Lavin. Hum Mol Genet 2009
18
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
17
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
17
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
17
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
M Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S Courtois, N Drouot,[...]. Neurogenetics 2010
M Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S Courtois, N Drouot,[...]. Neurogenetics 2010
17
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
C Barbot, P Coutinho, R Chorão, C Ferreira, J Barros, I Fineza, K Dias, J Monteiro, A Guimarães, P Mendonça,[...]. Arch Neurol 2001
22
Ovarian failure in ataxia with oculomotor apraxia type 2.
David R Lynch, Corey D Braastad, Narasimhan Nagan. Am J Med Genet A 2007
David R Lynch, Corey D Braastad, Narasimhan Nagan. Am J Med Genet A 2007
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Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.
M Watanabe, Y Sugai, P Concannon, M Koenig, M Schmitt, M Sato, M Shizuka, K Mizushima, Y Ikeda, Y Tomidokoro,[...]. Ann Neurol 1998
M Watanabe, Y Sugai, P Concannon, M Koenig, M Schmitt, M Sato, M Shizuka, K Mizushima, Y Ikeda, Y Tomidokoro,[...]. Ann Neurol 1998
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The autosomal recessive cerebellar ataxias.
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
Mathieu Anheim, Christine Tranchant, Michel Koenig. N Engl J Med 2012
16
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
K Savitsky, A Bar-Shira, S Gilad, G Rotman, Y Ziv, L Vanagaite, D A Tagle, S Smith, T Uziel, S Sfez,[...]. Science 1995
K Savitsky, A Bar-Shira, S Gilad, G Rotman, Y Ziv, L Vanagaite, D A Tagle, S Smith, T Uziel, S Sfez,[...]. Science 1995
15
15
Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.
Konstantina Skourti-Stathaki, Nicholas J Proudfoot, Natalia Gromak. Mol Cell 2011
Konstantina Skourti-Stathaki, Nicholas J Proudfoot, Natalia Gromak. Mol Cell 2011
15
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
Sherif F El-Khamisy, Gulam M Saifi, Michael Weinfeld, Fredrik Johansson, Thomas Helleday, James R Lupski, Keith W Caldecott. Nature 2005
Sherif F El-Khamisy, Gulam M Saifi, Michael Weinfeld, Fredrik Johansson, Thomas Helleday, James R Lupski, Keith W Caldecott. Nature 2005
14
Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.
Olivier J Becherel, Abrey J Yeo, Alissa Stellati, Evelyn Y H Heng, John Luff, Amila M Suraweera, Rick Woods, Jean Fleming, Dianne Carrie, Kristine McKinney,[...]. PLoS Genet 2013
Olivier J Becherel, Abrey J Yeo, Alissa Stellati, Evelyn Y H Heng, John Luff, Amila M Suraweera, Rick Woods, Jean Fleming, Dianne Carrie, Kristine McKinney,[...]. PLoS Genet 2013
14
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
13
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulou. BMC Med Genet 2008
Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulou. BMC Med Genet 2008
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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
A G Bassuk, Y Z Chen, S D Batish, N Nagan, P Opal, P F Chance, C L Bennett. Neurogenetics 2007
A G Bassuk, Y Z Chen, S D Batish, N Nagan, P Opal, P F Chance, C L Bennett. Neurogenetics 2007
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The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
Ivan Ahel, Ulrich Rass, Sherif F El-Khamisy, Sachin Katyal, Paula M Clements, Peter J McKinnon, Keith W Caldecott, Stephen C West. Nature 2006
Ivan Ahel, Ulrich Rass, Sherif F El-Khamisy, Sachin Katyal, Paula M Clements, Peter J McKinnon, Keith W Caldecott, Stephen C West. Nature 2006
13
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
T Asaka, H Yokoji, J Ito, K Yamaguchi, A Matsushima. Neurology 2006
T Asaka, H Yokoji, J Ito, K Yamaguchi, A Matsushima. Neurology 2006
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13
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.
J Aicardi, C Barbosa, E Andermann, F Andermann, R Morcos, Q Ghanem, Y Fukuyama, Y Awaya, P Moe. Ann Neurol 1988
J Aicardi, C Barbosa, E Andermann, F Andermann, R Morcos, Q Ghanem, Y Fukuyama, Y Awaya, P Moe. Ann Neurol 1988
12
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N Spelbrink, Tuula Lönnqvist, Leena Peltonen. Hum Mol Genet 2005
Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N Spelbrink, Tuula Lönnqvist, Leena Peltonen. Hum Mol Genet 2005
12
Clinical spectrum of ataxia-telangiectasia in adulthood.
M M M Verhagen, W F Abdo, M A A P Willemsen, F B L Hogervorst, D F C M Smeets, J A P Hiel, E R Brunt, M A van Rijn, D Majoor Krakauer, R A Oldenburg,[...]. Neurology 2009
M M M Verhagen, W F Abdo, M A A P Willemsen, F B L Hogervorst, D F C M Smeets, J A P Hiel, E R Brunt, M A van Rijn, D Majoor Krakauer, R A Oldenburg,[...]. Neurology 2009
12
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed,[...]. Hum Mutat 2012
Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed,[...]. Hum Mutat 2012
40
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.
Özlem Yüce, Stephen C West. Mol Cell Biol 2013
Özlem Yüce, Stephen C West. Mol Cell Biol 2013
12
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, J Sugano, C Guiraud-Chaumeil, M Koenig. Eur J Hum Genet 2000
P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, J Sugano, C Guiraud-Chaumeil, M Koenig. Eur J Hum Genet 2000
22
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
Brent L Fogel, Susan Perlman. Neurology 2006
Brent L Fogel, Susan Perlman. Neurology 2006
26
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro. Am J Hum Genet 2015
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro. Am J Hum Genet 2015
12
Phenotypic variability of aprataxin gene mutations.
C Tranchant, M Fleury, M C Moreira, M Koenig, J M Warter. Neurology 2003
C Tranchant, M Fleury, M C Moreira, M Koenig, J M Warter. Neurology 2003
16
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.
José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Pedro Modrego, Michel Koenig. Muscle Nerve 2009
José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Pedro Modrego, Michel Koenig. Muscle Nerve 2009
71
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, Catarina M Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine,[...]. Am J Hum Genet 2008
Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, Catarina M Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine,[...]. Am J Hum Genet 2008
9
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.
A M R Taylor, A Groom, P J Byrd. DNA Repair (Amst) 2004
A M R Taylor, A Groom, P J Byrd. DNA Repair (Amst) 2004
9
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
Ludger Schöls, Larissa Arning, Rebecca Schüle, Jörg T Epplen, Dagmar Timmann. J Neurol 2008
Ludger Schöls, Larissa Arning, Rebecca Schüle, Jörg T Epplen, Dagmar Timmann. J Neurol 2008
33
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.