Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Sole, Alain Destée, Jean-Michel Mayer, Bertrand Fontaine, Jérôme de Seze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stevanin, Josseline Kaplan, Jean-Michel Rozet, Alexis Brice, Alexandra Durr. Brain 2012
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Times Cited: 111
Times Cited
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Similarity
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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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston,[...]. Brain 2014
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Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
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SPG7 mutations are a common cause of undiagnosed ataxia.
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
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Multi-system neurological disease is common in patients with OPA1 mutations.
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali,[...]. Brain 2010
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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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Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
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Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau,[...]. Eur J Hum Genet 2016
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Patrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, Maria Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Henry Rivera, Jesús González de la Aleja, Rosanna Carroccia,[...]. Brain 2008
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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
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Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
F Brugman, H Scheffer, J H J Wokke, W M Nillesen, M de Visser, E Aronica, J H Veldink, L H van den Berg. Neurology 2008
F Brugman, H Scheffer, J H J Wokke, W M Nillesen, M de Visser, E Aronica, J H Veldink, L H van den Berg. Neurology 2008
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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, Joanna D Stewart, Langping He, Andrew M Schaefer, Philip G Griffiths, Kati Ahlqvist, Anu Suomalainen, Pascal Reynier,[...]. Brain 2008
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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Richard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, Alice M George, Rod A Lea, David Eccles, Stuart Mossman, Thomas Bird, Koen L van Gassen, Erik-Jan Kamsteeg,[...]. J Neurol 2013
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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Cécile Rouzier, Sylvie Bannwarth, Annabelle Chaussenot, Arnaud Chevrollier, Annie Verschueren, Nathalie Bonello-Palot, Konstantina Fragaki, Aline Cano, Jean Pouget, Jean-François Pellissier,[...]. Brain 2012
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Dominant optic atrophy.
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea. Orphanet J Rare Dis 2012
Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea. Orphanet J Rare Dis 2012
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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
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Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
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Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis. PLoS One 2014
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The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
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Functional evaluation of paraplegin mutations by a yeast complementation assay.
Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P Hamel, Guy Lenaers. Front Genet 2015
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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
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PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Matthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B Haack, Adriana Rebelo, Didier Hannequin, Tim M Strom, Holger Prokisch, Christoph Kernstock,[...]. Brain 2014
Matthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B Haack, Adriana Rebelo, Didier Hannequin, Tim M Strom, Holger Prokisch, Christoph Kernstock,[...]. Brain 2014
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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
Mark Nolden, Sarah Ehses, Mirko Koppen, Andrea Bernacchia, Elena I Rugarli, Thomas Langer. Cell 2005
11
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P H Kremer, Suzanna G M Frints, Wendy A G van Zelst-Stams, Paula Byrne, Susanne Otto,[...]. Brain 2008
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P H Kremer, Suzanna G M Frints, Wendy A G van Zelst-Stams, Paula Byrne, Susanne Otto,[...]. Brain 2008
11
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
Luigia Atorino, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, Giorgio Casari. J Cell Biol 2003
Luigia Atorino, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer, Giorgio Casari. J Cell Biol 2003
11
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
10
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin. J Neurol Sci 2012
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin. J Neurol Sci 2012
10
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
Fatima Ferreirinha, Angelo Quattrini, Marinella Pirozzi, Valentina Valsecchi, Giorgia Dina, Vania Broccoli, Alberto Auricchio, Fiorella Piemonte, Giulia Tozzi, Laura Gaeta,[...]. J Clin Invest 2004
Fatima Ferreirinha, Angelo Quattrini, Marinella Pirozzi, Valentina Valsecchi, Giorgia Dina, Vania Broccoli, Alberto Auricchio, Fiorella Piemonte, Giulia Tozzi, Laura Gaeta,[...]. J Clin Invest 2004
10
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L Loureiro, Maxime Boutry, Michael A Gonzalez, Julie Gauthier, Khalid H El-Hachimi, Christel Depienne, Marie-Paule Muriel,[...]. Am J Hum Genet 2014
Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L Loureiro, Maxime Boutry, Michael A Gonzalez, Julie Gauthier, Khalid H El-Hachimi, Christel Depienne, Marie-Paule Muriel,[...]. Am J Hum Genet 2014
18
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
10
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Janneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T de Bot, Bonnie Nijhof, Ilse I G M van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller,[...]. Am J Hum Genet 2012
Janneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T de Bot, Bonnie Nijhof, Ilse I G M van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller,[...]. Am J Hum Genet 2012
10
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
10
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
10
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
10
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche,[...]. Am J Hum Genet 2012
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche,[...]. Am J Hum Genet 2012
9
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
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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Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.
Sarah Ehses, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I Rugarli, Thomas Langer. J Cell Biol 2009
Sarah Ehses, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I Rugarli, Thomas Langer. J Cell Biol 2009
9
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.