C J McDermott, R K Dayaratne, J Tomkins, M E Lusher, J C Lindsey, M A Johnson, G Casari, D M Turnbull, K Bushby, P J Shaw. Neurology 2001
Times Cited: 62
Times Cited: 62
Times Cited
Times Co-cited
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
G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, G De Michele, A Filla, S Cocozza, R Marconi,[...]. Cell 1998
75
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
41
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
N Elleuch, C Depienne, A Benomar, A M Ouvrard Hernandez, X Ferrer, B Fontaine, D Grid, C M E Tallaksen, R Zemmouri, G Stevanin,[...]. Neurology 2006
N Elleuch, C Depienne, A Benomar, A M Ouvrard Hernandez, X Ferrer, B Fontaine, D Grid, C M E Tallaksen, R Zemmouri, G Stevanin,[...]. Neurology 2006
41
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D'Angelo, Giovanni Meola, Andrea Martinuzzi,[...]. Hum Mutat 2008
Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D'Angelo, Giovanni Meola, Andrea Martinuzzi,[...]. Hum Mutat 2008
37
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
37
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
35
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza. Am J Hum Genet 1998
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza. Am J Hum Genet 1998
30
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
30
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, A I Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante,[...]. Clin Genet 2013
E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, A I Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante,[...]. Clin Genet 2013
29
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
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
29
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
27
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
42
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Heema Patel, Harold Cross, Christos Proukakis, Ruth Hershberger, Peer Bork, Francesca D Ciccarelli, Michael A Patton, Victor A McKusick, Andrew H Crosby. Nat Genet 2002
Heema Patel, Harold Cross, Christos Proukakis, Ruth Hershberger, Peer Bork, Francesca D Ciccarelli, Michael A Patton, Victor A McKusick, Andrew H Crosby. Nat Genet 2002
24
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
T Warnecke, T Duning, A Schwan, H Lohmann, J T Epplen, P Young. Neurology 2007
T Warnecke, T Duning, A Schwan, H Lohmann, J T Epplen, P Young. Neurology 2007
34
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
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
24
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
22
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu-Rebeix, Costa Georgopoulos, Debbie Ang, Marit Nyholm Nielsen, Claire-Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen,[...]. Am J Hum Genet 2002
Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu-Rebeix, Costa Georgopoulos, Debbie Ang, Marit Nyholm Nielsen, Claire-Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen,[...]. Am J Hum Genet 2002
20
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
20
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
Evan Reid, Mark Kloos, Allison Ashley-Koch, Lori Hughes, Simon Bevan, Ingrid K Svenson, Felicia Lennon Graham, Perry C Gaskell, Andrew Dearlove, Margaret A Pericak-Vance,[...]. Am J Hum Genet 2002
Evan Reid, Mark Kloos, Allison Ashley-Koch, Lori Hughes, Simon Bevan, Ingrid K Svenson, Felicia Lennon Graham, Perry C Gaskell, Andrew Dearlove, Margaret A Pericak-Vance,[...]. Am J Hum Genet 2002
19
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
Michael A Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A Patton, Andrew H Crosby. Am J Hum Genet 2003
Michael A Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A Patton, Andrew H Crosby. Am J Hum Genet 2003
19
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Charalampos Tzoulis, Paola S Denora, Filippo M Santorelli, Laurence A Bindoff. J Neurol 2008
Charalampos Tzoulis, Paola S Denora, Filippo M Santorelli, Laurence A Bindoff. J Neurol 2008
66
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
P Saugier-Veber, A Munnich, D Bonneau, J M Rozet, M Le Merrer, R Gil, O Boespflug-Tanguy. Nat Genet 1994
P Saugier-Veber, A Munnich, D Bonneau, J M Rozet, M Le Merrer, R Gil, O Boespflug-Tanguy. Nat Genet 1994
17
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
M Jouet, A Rosenthal, G Armstrong, J MacFarlane, R Stevenson, J Paterson, A Metzenberg, V Ionasescu, K Temple, S Kenwrick. Nat Genet 1994
M Jouet, A Rosenthal, G Armstrong, J MacFarlane, R Stevenson, J Paterson, A Metzenberg, V Ionasescu, K Temple, S Kenwrick. Nat Genet 1994
17
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
X Zhao, D Alvarado, S Rainier, R Lemons, P Hedera, C H Weber, T Tukel, M Apak, T Heiman-Patterson, L Ming,[...]. Nat Genet 2001
X Zhao, D Alvarado, S Rainier, R Lemons, P Hedera, C H Weber, T Tukel, M Apak, T Heiman-Patterson, L Ming,[...]. Nat Genet 2001
17
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Christian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A Reed, Ines Dierick, Nathalie Verpoorten,[...]. Nat Genet 2004
Christian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, Heema Patel, Erwin Petek, Gerd Hörl, Roland Malli, Johanna A Reed, Ines Dierick, Nathalie Verpoorten,[...]. Nat Genet 2004
17
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
17
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
17
Hereditary spastic paraparesis: a review of new developments.
C McDermott, K White, K Bushby, P Shaw. J Neurol Neurosurg Psychiatry 2000
C McDermott, K White, K Bushby, P Shaw. J Neurol Neurosurg Psychiatry 2000
16
The extent of axonal loss in the long tracts in hereditary spastic paraplegia.
G C Deluca, G C Ebers, M M Esiri. Neuropathol Appl Neurobiol 2004
G C Deluca, G C Ebers, M M Esiri. Neuropathol Appl Neurobiol 2004
16
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
N A Schlipf, R Schüle, S Klimpe, K N Karle, M Synofzik, J Schicks, O Riess, Ludger Schöls, P Bauer. Clin Genet 2011
N A Schlipf, R Schüle, S Klimpe, K N Karle, M Synofzik, J Schicks, O Riess, Ludger Schöls, P Bauer. Clin Genet 2011
30
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
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
16
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
G Vazza, M Zortea, F Boaretto, G F Micaglio, V Sartori, M L Mostacciuolo. Am J Hum Genet 2000
G Vazza, M Zortea, F Boaretto, G F Micaglio, V Sartori, M L Mostacciuolo. Am J Hum Genet 2000
18
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D Nicholls, John K Fink. Am J Hum Genet 2003
Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D Nicholls, John K Fink. Am J Hum Genet 2003
14
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A Nance, Perry C Gaskell, Jeffery M Vance, Allison E Ashley-Koch, Margaret A Pericak-Vance. Am J Hum Genet 2006
Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A Nance, Perry C Gaskell, Jeffery M Vance, Allison E Ashley-Koch, Margaret A Pericak-Vance. Am J Hum Genet 2006
14
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Tobias Warnecke, Thomas Duning, Anja Schirmacher, Siawoosh Mohammadi, Wolfram Schwindt, Hubertus Lohmann, Rainer Dziewas, Michael Deppe, E Bernd Ringelstein, Peter Young. Mov Disord 2010
Tobias Warnecke, Thomas Duning, Anja Schirmacher, Siawoosh Mohammadi, Wolfram Schwindt, Hubertus Lohmann, Rainer Dziewas, Michael Deppe, E Bernd Ringelstein, Peter Young. Mov Disord 2010
45
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
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
27
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
A E Harding. J Neurol Neurosurg Psychiatry 1981
A E Harding. J Neurol Neurosurg Psychiatry 1981
12
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Alessia Errico, Andrea Ballabio, Elena I Rugarli. Hum Mol Genet 2002
Alessia Errico, Andrea Ballabio, Elena I Rugarli. Hum Mol Genet 2002
12
Investigation of mitochondrial function in hereditary spastic paraparesis.
C J McDermott, R W Taylor, C Hayes, M Johnson, K M D Bushby, D M Turnbull, P J Shaw. Neuroreport 2003
C J McDermott, R W Taylor, C Hayes, M Johnson, K M D Bushby, D M Turnbull, P J Shaw. Neuroreport 2003
34
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
E Reid. J Med Genet 2003
E Reid. J Med Genet 2003
12
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
12
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
12
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
12
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
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
12
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
12
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
K D White, P G Ince, M Lusher, J Lindsey, M Cookson, R Bashir, P J Shaw, K M Bushby. Neurology 2000
K D White, P G Ince, M Lusher, J Lindsey, M Cookson, R Bashir, P J Shaw, K M Bushby. Neurology 2000
11
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.
C A Hughes, P C Byrne, S Webb, P McMonagle, V Patterson, M Hutchinson, N A Parfrey. Neurology 2001
C A Hughes, P C Byrne, S Webb, P McMonagle, V Patterson, M Hutchinson, N A Parfrey. Neurology 2001
15
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
J M Polo, J Calleja, O Combarros, J Berciano. Brain 1991
J M Polo, J Calleja, O Combarros, J Berciano. Brain 1991
11
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
C Settasatian, S A Whitmore, J Crawford, R L Bilton, A M Cleton-Jansen, G R Sutherland, D F Callen. Hum Genet 1999
C Settasatian, S A Whitmore, J Crawford, R L Bilton, A M Cleton-Jansen, G R Sutherland, D F Callen. Hum Genet 1999
31
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.