A citation-based method for searching scientific literature

C Mancini, E Giorgio, A Rubegni, L Pradotto, S Bagnoli, E Rubino, P Prontera, S Cavalieri, E Di Gregorio, M Ferrero, E Pozzi, E Riberi, P Ferrero, P Nigro, A Mauro, M Zibetti, A Tessa, M Barghigiani, A Antenora, F Sirchia, S Piacentini, G Silvestri, G De Michele, A Filla, L Orsi, F M Santorelli, A Brusco. Eur J Neurol 2019
Times Cited: 9







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



Times Cited
  Times     Co-cited
Similarity


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
32
55

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
103
55

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
77
55

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
600
55

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
263
44

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.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
44

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
65
44

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
31
44

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
110
44

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
110
33

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti,[...]. Brain 2017
50
33

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
79
33


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
191
33

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, Paola Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E Elia,[...]. Hum Mutat 2018
17
33


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
68
33

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
133
33

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
67
33

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Channa A Hewamadduma, Nigel Hoggard, Ronan O'Malley, Megan K Robinson, Nick J Beauchamp, Ruta Segamogaite, Jo Martindale, Tobias Rodgers, Ganesh Rao, Ptolemaios Sarrigiannis,[...]. Neurol Genet 2018
26
33

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
61
33

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
36
33

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
62
33

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez, Raúl Barahona-Hernando, Germán Morís, María García-Barcina, Jon Infante, Miren Zulaica, Uxoa Fernández-Pelayo, Mikel Muñoz-Oreja,[...]. Mov Disord 2019
19
33

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Edgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate, Raquel Ramos-Martín, Miren Zulaica, Laura Planas-Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain,[...]. Ann Clin Transl Neurol 2020
7
42

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule, Bart P C van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G Hamer, Jonathan Baets, Mathieu Anheim,[...]. Neurology 2019
23
33

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico. J Neurol Sci 2017
9
22

Innovative genomic collaboration using the GENESIS (GEM.app) platform.
Michael Gonzalez, Marni J Falk, Xiaowu Gai, Richard Postrel, Rebecca Schüle, Stephan Zuchner. Hum Mutat 2015
60
22

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
328
22

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft. PLoS One 2017
32
22


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
22

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Andrea Martinuzzi, Domenico Montanaro, Marinela Vavla, Gabriella Paparella, Paolo Bonanni, Olimpia Musumeci, Erika Brighina, Hana Hlavata, Giuseppe Rossi, Gayane Aghakhanyan,[...]. PLoS One 2016
17
22

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
A Tessa, R Battini, A Rubegni, E Storti, C Marini, D Galatolo, R Pasquariello, F M Santorelli. Eur J Neurol 2016
19
22

Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
46
22

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
95
22

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Kishore R Kumar, Nicholas F Blair, Himesha Vandebona, Christina Liang, Karl Ng, David M Sharpe, Anne Grünewald, Uta Gölnitz, Viatcheslav Saviouk, Arndt Rolfs,[...]. J Neurol 2013
36
22

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
145
22

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima,[...]. J Hum Genet 2015
31
22

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo,[...]. Brain 2018
43
22

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles,[...]. Lancet Neurol 2015
116
22

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
66
22

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
372
22

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Dietmar R Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik. Int J Mol Sci 2015
12
22

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo,[...]. Brain 2017
56
22

Scale for the assessment and rating of ataxia: development of a new clinical scale.
T Schmitz-Hübsch, S Tezenas du Montcel, L Baliko, J Berciano, S Boesch, C Depondt, P Giunti, C Globas, J Infante, J-S Kang,[...]. Neurology 2006
941
22

m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.
Maria Patron, Hans-Georg Sprenger, Thomas Langer. Cell Res 2018
45
22

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles,[...]. J Neurol 2018
14
22

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
Santhanam Shanmughapriya, Sudarsan Rajan, Nicholas E Hoffman, Andrew M Higgins, Dhanendra Tomar, Neeharika Nemani, Kevin J Hines, Dylan J Smith, Akito Eguchi, Sandhya Vallem,[...]. Mol Cell 2015
110
22

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.
José Luiz Pedroso, Thiago Cardoso Vale, Fabiana Lucas Bueno, Victor Hugo Rocha Marussi, Lázaro Luís Faria do Amaral, Marcondes C França, Orlando G Barsottini. Parkinsonism Relat Disord 2018
11
22


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.