Josef Finsterer. Can J Neurol Sci 2009
Times Cited: 29
Times Cited: 29
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
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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
20
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
20
Sporadic ataxia with adult onset: classification and diagnostic criteria.
Thomas Klockgether. Lancet Neurol 2010
Thomas Klockgether. Lancet Neurol 2010
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Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.
Kei Watase, Jennifer R Gatchel, Yaling Sun, Effat Emamian, Richard Atkinson, Ronald Richman, Hidehiro Mizusawa, Harry T Orr, Chad Shaw, Huda Y Zoghbi. PLoS Med 2007
Kei Watase, Jennifer R Gatchel, Yaling Sun, Effat Emamian, Richard Atkinson, Ronald Richman, Hidehiro Mizusawa, Harry T Orr, Chad Shaw, Huda Y Zoghbi. PLoS Med 2007
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13
An approach to the patient with late-onset cerebellar ataxia.
Brent L Fogel, Susan Perlman. Nat Clin Pract Neurol 2006
Brent L Fogel, Susan Perlman. Nat Clin Pract Neurol 2006
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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
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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Anna H Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T Luoma, Maria Rantamaki, Gert Van Goethem, Ann Lofgren, Peter Hackman, Anders Paetau,[...]. Am J Hum Genet 2005
Anna H Hakonen, Silja Heiskanen, Vesa Juvonen, Ilse Lappalainen, Petri T Luoma, Maria Rantamaki, Gert Van Goethem, Ann Lofgren, Peter Hackman, Anders Paetau,[...]. Am J Hum Genet 2005
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh,[...]. Hum Mutat 2008
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh,[...]. Hum Mutat 2008
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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
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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
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Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.
Jing Liu, Tie-Shan Tang, Huiping Tu, Omar Nelson, Emily Herndon, Duong P Huynh, Stefan M Pulst, Ilya Bezprozvanny. J Neurosci 2009
Jing Liu, Tie-Shan Tang, Huiping Tu, Omar Nelson, Emily Herndon, Duong P Huynh, Stefan M Pulst, Ilya Bezprozvanny. J Neurosci 2009
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Intensive coordinative training improves motor performance in degenerative cerebellar disease.
W Ilg, M Synofzik, D Brötz, S Burkard, M A Giese, L Schöls. Neurology 2009
W Ilg, M Synofzik, D Brötz, S Burkard, M A Giese, L Schöls. Neurology 2009
10
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
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Autosomal recessive cerebellar ataxias: the current state of affairs.
S Vermeer, B P C van de Warrenburg, M A A P Willemsen, M Cluitmans, H Scheffer, B P Kremer, N V A M Knoers. J Med Genet 2011
S Vermeer, B P C van de Warrenburg, M A A P Willemsen, M Cluitmans, H Scheffer, B P Kremer, N V A M Knoers. J Med Genet 2011
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Diagnosis and management of early- and late-onset cerebellar ataxia.
E Brusse, J A Maat-Kievit, J C van Swieten. Clin Genet 2007
E Brusse, J A Maat-Kievit, J C van Swieten. Clin Genet 2007
10
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Brent L Fogel, Ji Yong Lee, Jessica Lane, Amanda Wahnich, Sandy Chan, Alden Huang, Greg E Osborn, Eric Klein, Catherine Mamah, Susan Perlman,[...]. Mov Disord 2012
Brent L Fogel, Ji Yong Lee, Jessica Lane, Amanda Wahnich, Sandy Chan, Alden Huang, Greg E Osborn, Eric Klein, Catherine Mamah, Susan Perlman,[...]. Mov Disord 2012
11
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda, Mitsunori Fukuda, Yoko Fukuda, Hiroshi Morita, Shu-ichi Ikeda, Rumiko Kato, Yoshinori Tsurusaki, Noriko Miyake,[...]. Am J Hum Genet 2011
Hiroshi Doi, Kunihiro Yoshida, Takao Yasuda, Mitsunori Fukuda, Yoko Fukuda, Hiroshi Morita, Shu-ichi Ikeda, Rumiko Kato, Yoshinori Tsurusaki, Noriko Miyake,[...]. Am J Hum Genet 2011
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Recent advances in the genetics of cerebellar ataxias.
Anna Sailer, Henry Houlden. Curr Neurol Neurosci Rep 2012
Anna Sailer, Henry Houlden. Curr Neurol Neurosci Rep 2012
10
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
10
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg. Eur J Hum Genet 2016
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg. Eur J Hum Genet 2016
10
Systematic review of autosomal recessive ataxias and proposal for a classification.
Marie Beaudin, Christopher J Klein, Guy A Rouleau, Nicolas Dupré. Cerebellum Ataxias 2017
Marie Beaudin, Christopher J Klein, Guy A Rouleau, Nicolas Dupré. Cerebellum Ataxias 2017
10
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Anna H Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper, Kimmo Mattila, Milla Lampinen, Antti Sajantila, Tuula Lönnqvist, Johannes N Spelbrink,[...]. Hum Mol Genet 2008
Anna H Hakonen, Steffi Goffart, Sanna Marjavaara, Anders Paetau, Helen Cooper, Kimmo Mattila, Milla Lampinen, Antti Sajantila, Tuula Lönnqvist, Johannes N Spelbrink,[...]. Hum Mol Genet 2008
6
The mitochondrial protease AFG3L2 is essential for axonal development.
Francesca Maltecca, Asadollah Aghaie, David G Schroeder, Laura Cassina, Benjamin A Taylor, Sandra J Phillips, Mariachiara Malaguti, Stefano Previtali, Jean-Louis Guénet, Angelo Quattrini,[...]. J Neurosci 2008
Francesca Maltecca, Asadollah Aghaie, David G Schroeder, Laura Cassina, Benjamin A Taylor, Sandra J Phillips, Mariachiara Malaguti, Stefano Previtali, Jean-Louis Guénet, Angelo Quattrini,[...]. J Neurosci 2008
6
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
6
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis,[...]. Ann Neurol 2005
Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis,[...]. Ann Neurol 2005
6
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
6
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
M C Fahey, M A Knight, J H Shaw, R J McK Gardner, D du Sart, P J Lockhart, M B Delatycki, P C Gates, E Storey. J Neurol Neurosurg Psychiatry 2005
M C Fahey, M A Knight, J H Shaw, R J McK Gardner, D du Sart, P J Lockhart, M B Delatycki, P C Gates, E Storey. J Neurol Neurosurg Psychiatry 2005
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Effectiveness and safety of treatments for degenerative ataxias: a systematic review.
M Mar Trujillo-Martín, Pedro Serrano-Aguilar, Fernando Monton-Alvarez, Romen Carrillo-Fumero. Mov Disord 2009
M Mar Trujillo-Martín, Pedro Serrano-Aguilar, Fernando Monton-Alvarez, Romen Carrillo-Fumero. Mov Disord 2009
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RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.
Haibin Xia, Qinwen Mao, Steven L Eliason, Scott Q Harper, Inês H Martins, Harry T Orr, Henry L Paulson, Linda Yang, Robert M Kotin, Beverly L Davidson. Nat Med 2004
Haibin Xia, Qinwen Mao, Steven L Eliason, Scott Q Harper, Inês H Martins, Harry T Orr, Henry L Paulson, Linda Yang, Robert M Kotin, Beverly L Davidson. Nat Med 2004
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Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
Nathalie Boddaert, Kim Hanh Le Quan Sang, Agnès Rötig, Anne Leroy-Willig, Serge Gallet, Francis Brunelle, Daniel Sidi, Jean-Christophe Thalabard, Arnold Munnich, Z Ioav Cabantchik. Blood 2007
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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
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Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
J Hübner, A Sprenger, C Klein, J Hagenah, H Rambold, C Zühlke, D Kömpf, A Rolfs, H Kimmig, C Helmchen. Neurology 2007
J Hübner, A Sprenger, C Klein, J Hagenah, H Rambold, C Zühlke, D Kömpf, A Rolfs, H Kimmig, C Helmchen. Neurology 2007
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Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
Caterina Mariotti, Dario Alpini, Roberto Fancellu, Paola Soliveri, Marina Grisoli, Sabrina Ravaglia, Carlo Lovati, Vincenza Fetoni, Giorgio Giaccone, Alessia Castucci,[...]. J Neurol 2007
Caterina Mariotti, Dario Alpini, Roberto Fancellu, Paola Soliveri, Marina Grisoli, Sabrina Ravaglia, Carlo Lovati, Vincenza Fetoni, Giorgio Giaccone, Alessia Castucci,[...]. J Neurol 2007
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Huntington's disease phenocopies are clinically and genetically heterogeneous.
Edward J Wild, Ese E Mudanohwo, Mary G Sweeney, Susanne A Schneider, Jon Beck, Kailash P Bhatia, Martin N Rossor, Mary B Davis, Sarah J Tabrizi. Mov Disord 2008
Edward J Wild, Ese E Mudanohwo, Mary G Sweeney, Susanne A Schneider, Jon Beck, Kailash P Bhatia, Martin N Rossor, Mary B Davis, Sarah J Tabrizi. Mov Disord 2008
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Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis.
J M López-Arlandis, J J Vílchez, F Palau, T Sevilla. Neuroepidemiology 1995
J M López-Arlandis, J J Vílchez, F Palau, T Sevilla. Neuroepidemiology 1995
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Abetalipoproteinemia: two case reports and literature review.
Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele. Orphanet J Rare Dis 2008
Rola Zamel, Razi Khan, Rebecca L Pollex, Robert A Hegele. Orphanet J Rare Dis 2008
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The wobbly child: an approach to inherited ataxias.
Genevieve Bernard, Michael Shevell. Semin Pediatr Neurol 2008
Genevieve Bernard, Michael Shevell. Semin Pediatr Neurol 2008
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Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency.
M Gironi, C Lamperti, R Nemni, M Moggio, G Comi, F R Guerini, P Ferrante, N Canal, A Naini, N Bresolin,[...]. Neurology 2004
M Gironi, C Lamperti, R Nemni, M Moggio, G Comi, F R Guerini, P Ferrante, N Canal, A Naini, N Bresolin,[...]. Neurology 2004
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Differential diagnosis of cerebellar atrophy in childhood.
Andrea Poretti, Nicole I Wolf, Eugen Boltshauser. Eur J Paediatr Neurol 2008
Andrea Poretti, Nicole I Wolf, Eugen Boltshauser. Eur J Paediatr Neurol 2008
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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
C M Quinzii, A G Kattah, A Naini, H O Akman, V K Mootha, S DiMauro, M Hirano. Neurology 2005
C M Quinzii, A G Kattah, A Naini, H O Akman, V K Mootha, S DiMauro, M Hirano. Neurology 2005
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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Klaus Gempel, Haluk Topaloglu, Beril Talim, Peter Schneiderat, Benedikt G H Schoser, Volkmar H Hans, Beatrix Pálmafy, Gulsev Kale, Aysegul Tokatli, Catarina Quinzii,[...]. Brain 2007
Klaus Gempel, Haluk Topaloglu, Beril Talim, Peter Schneiderat, Benedikt G H Schoser, Volkmar H Hans, Beatrix Pálmafy, Gulsev Kale, Aysegul Tokatli, Catarina Quinzii,[...]. Brain 2007
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Inborn errors of metabolism and motor disturbances in children.
A García-Cazorla, N I Wolf, M Serrano, B Pérez-Dueñas, M Pineda, J Campistol, E Fernández-Alvarez, J Colomer, S DiMauro, G F Hoffmann. J Inherit Metab Dis 2009
A García-Cazorla, N I Wolf, M Serrano, B Pérez-Dueñas, M Pineda, J Campistol, E Fernández-Alvarez, J Colomer, S DiMauro, G F Hoffmann. J Inherit Metab Dis 2009
6
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann, Markus Moser, Nico Breitbach-Faller, Sabine Rudnik-Schöneborn, Astrid Blaschek, Nicole I Wolf, Inga Harting,[...]. Nat Genet 2005
Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann, Markus Moser, Nico Breitbach-Faller, Sabine Rudnik-Schöneborn, Astrid Blaschek, Nicole I Wolf, Inga Harting,[...]. Nat Genet 2005
6
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.