Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera, Stefano Di Donato, Alfredo Brusco. Brain 2006
Times Cited: 86
Times Cited: 86
Times Cited
Times Co-cited
Similarity
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,[...]. Nat Genet 2010
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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
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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, G De Michele, A Filla, S Cocozza, R Marconi,[...]. Cell 1998
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Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L Margolis, Susan E Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan,[...]. Hum Mutat 2010
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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
Melanie A Knight, R J McKinlay Gardner, Melanie Bahlo, Tohru Matsuura, Judith A Dixon, Susan M Forrest, Elsdon Storey. Brain 2004
Melanie A Knight, R J McKinlay Gardner, Melanie Bahlo, Tohru Matsuura, Judith A Dixon, Susan M Forrest, Elsdon Storey. Brain 2004
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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
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Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
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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
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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
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The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.
Mark Nolden, Sarah Ehses, Mirko Koppen, Andrea Bernacchia, Elena I Rugarli, Thomas Langer. Cell 2005
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Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
D S Verbeek, B P van de Warrenburg, P Wesseling, P L Pearson, H P Kremer, R J Sinke. Brain 2004
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Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
Caterina Mariotti, Alfredo Brusco, Daniela Di Bella, Claudia Cagnoli, Marco Seri, Cinzia Gellera, Stefano Di Donato, Franco Taroni. Cerebellum 2008
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Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.
Francesca Maltecca, Raffaella Magnoni, Federica Cerri, Gregory A Cox, Angelo Quattrini, Giorgio Casari. J Neurosci 2009
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A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
Ming-Yi Chung, Yi-Chun Lu, Nai-Chia Cheng, Bing-Wen Soong. Brain 2003
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Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.
Mirko Koppen, Metodi D Metodiev, Giorgio Casari, Elena I Rugarli, Thomas Langer. Mol Cell Biol 2007
Mirko Koppen, Metodi D Metodiev, Giorgio Casari, Elena I Rugarli, Thomas Langer. Mol Cell Biol 2007
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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
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Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlke. Eur J Hum Genet 2010
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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
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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
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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
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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
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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
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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
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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley,[...]. PLoS Genet 2011
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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
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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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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
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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
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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
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A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
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Isabelle Vuillaume, David Devos, Susanna Schraen-Maschke, Christian Dina, Arnaud Lemainque, Francis Vasseur, Guy Bocquillon, Patrick Devos, Carole Kocinski, Christiane Marzys,[...]. Ann Neurol 2002
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Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Dineke S Verbeek, Jurgen H Schelhaas, Elly F Ippel, Frits A Beemer, Peter L Pearson, Richard J Sinke. Hum Genet 2002
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Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Giovanni Stevanin, Naima Bouslam, Stéphane Thobois, Hamid Azzedine, Lucas Ravaux, Anne Boland, Martin Schalling, Emmanuel Broussolle, Alexandra Dürr, Alexis Brice. Ann Neurol 2004
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Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Henry Houlden, Janel Johnson, Christopher Gardner-Thorpe, Tammaryn Lashley, Dena Hernandez, Paul Worth, Andrew B Singleton, David A Hilton, Janice Holton, Tamas Revesz,[...]. Nat Genet 2007
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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
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Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
Zoran Brkanac, Magali Fernandez, Mark Matsushita, Hilary Lipe, John Wolff, Thomas D Bird, Wendy H Raskind. Am J Med Genet 2002
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Molecular pathogenesis of spinocerebellar ataxias.
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A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.
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Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
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Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.
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Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
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Identification and characterization of AFG3L2, a novel paraplegin-related gene.
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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
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Clinical features and genetic analysis of a new form of spinocerebellar ataxia.
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
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A new autosomal dominant pure cerebellar ataxia.
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Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
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New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
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The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria.
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AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
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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.