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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, Claudia Crimella, Francesca Redaelli, Chris Panzeri, Alessandra Renieri, Giacomo Pietro Comi, Anna Carla Turconi, Nereo Bresolin, Maria Teresa Bassi. Hum Mutat 2008
Times Cited: 69






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List of co-cited articles
572 articles co-cited >1



Times Cited
  Times     Co-cited
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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
607
44
63

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
82
31
44

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
67
31
46

Classification of the hereditary ataxias and paraplegias.
A E Harding. Lancet 1983
721
26
37

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
67
26
38

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
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
62
23
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
193
22
31

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
73
21
30

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
279
19
27

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
138
18
26

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
210
17
24

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
355
17
24

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
82
17
24

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
163
16
23

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
43
16
37

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
112
16
23

Functional evaluation of paraplegin mutations by a yeast complementation assay.
Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U Mannan. Hum Mutat 2010
38
15
39

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez,[...]. Am J Hum Genet 2008
139
14
20

Hereditary spastic paraplegias: an update.
Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2007
151
14
20

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
226
14
20

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
111
14
20

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
101
13
18

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
272
12
17

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
129
12
17

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
18
12
66

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
128
12
17

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
216
12
17

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
33
12
36

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
245
11
15

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
M Namekawa, P Ribai, I Nelson, S Forlani, F Fellmann, C Goizet, C Depienne, G Stevanin, M Ruberg, A Dürr,[...]. Neurology 2006
82
11
15

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Maria K Tsaousidou, Karim Ouahchi, Tom T Warner, Yi Yang, Michael A Simpson, Nigel G Laing, Philip A Wilkinson, Ricardo E Madrid, Heema Patel, Faycal Hentati,[...]. Am J Hum Genet 2008
121
11
15

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
C Beetz, A O H Nygren, J Schickel, M Auer-Grumbach, K Bürk, G Heide, J Kassubek, S Klimpe, T Klopstock, F Kreuz,[...]. Neurology 2006
107
11
15

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
151
11
15

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
118
11
15

Neuropathy target esterase gene mutations cause motor neuron disease.
Shirley Rainier, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, Rudy J Richardson, James W Albers, Nori Matsunami,[...]. Am J Hum Genet 2008
158
11
15

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg,[...]. J Med Genet 2007
87
10
14

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, A Durr. J Med Genet 2006
70
10
14

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Paul N Valdmanis, Inge A Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A Dion, Pierre Drapeau,[...]. Am J Hum Genet 2007
130
10
14

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, Véronique Paquis, Christel Depienne, Alexandra Durr,[...]. Hum Mutat 2009
92
10
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
20
10
50

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
66
10
15

Hereditary spastic paraplegias: membrane traffic and the motor pathway.
Craig Blackstone, Cahir J O'Kane, Evan Reid. Nat Rev Neurosci 2011
207
9
13

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
277
9
13

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
33
9
27

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Ute Hehr, Peter Bauer, Beate Winner, Rebecca Schule, Akguen Olmez, Wolfgang Koehler, Goekhan Uyanik, Anna Engel, Daniela Lenz, Andrea Seibel,[...]. Ann Neurol 2007
87
8
11

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.
P McMonagle, S Webb, M Hutchinson. J Neurol Neurosurg Psychiatry 2002
48
8
16

Hereditary spastic paraplegia.
John K Fink. Curr Neurol Neurosci Rep 2006
190
8
11

The hereditary spastic paraplegia protein spartin localises to mitochondria.
JianPing Lu, Faiza Rashid, Paula C Byrne. J Neurochem 2006
37
8
21

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Alexandra Dürr, Agnès Camuzat, Emilie Colin, Chantal Tallaksen, Didier Hannequin, Paula Coutinho, Bertrand Fontaine, Annick Rossi, Roger Gil, Christophe Rousselle,[...]. Arch Neurol 2004
80
8
11

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
J M Polo, J Calleja, O Combarros, J Berciano. Brain 1991
131
8
11


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.

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