Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
Times Cited: 108
Times Cited: 108
Times Cited
Times Co-cited
Similarity
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
31
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
John K Fink. Acta Neuropathol 2013
25
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
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
22
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
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
18
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
S Klebe, G Stevanin, C Depienne. Rev Neurol (Paris) 2015
S Klebe, G Stevanin, C Depienne. Rev Neurol (Paris) 2015
17
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Christelle Tesson, Jeanette Koht, Giovanni Stevanin. Hum Genet 2015
Christelle Tesson, Jeanette Koht, Giovanni Stevanin. Hum Genet 2015
20
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
16
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
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
16
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
14
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
14
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
13
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
11
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
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
18
Hereditary spastic paraplegia: More than an upper motor neuron disease.
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
23
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso,[...]. Eur J Hum Genet 2017
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso,[...]. Eur J Hum Genet 2017
23
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
9
Update on the Genetics of Spastic Paraplegias.
Maxime Boutry, Sara Morais, Giovanni Stevanin. Curr Neurol Neurosci Rep 2019
Maxime Boutry, Sara Morais, Giovanni Stevanin. Curr Neurol Neurosci Rep 2019
18
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
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
8
Hereditary spastic paraplegias: membrane traffic and the motor pathway.
Craig Blackstone, Cahir J O'Kane, Evan Reid. Nat Rev Neurosci 2011
Craig Blackstone, Cahir J O'Kane, Evan Reid. Nat Rev Neurosci 2011
8
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
8
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen,[...]. Brain 2018
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen,[...]. Brain 2018
21
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
10
Hereditary spastic paraplegia: clinical principles and genetic advances.
John K Fink. Semin Neurol 2014
John K Fink. Semin Neurol 2014
11
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
7
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
7
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
Ute Hehr, Peter Bauer, Beate Winner, Rebecca Schule, Akguen Olmez, Wolfgang Koehler, Goekhan Uyanik, Anna Engel, Daniela Lenz, Andrea Seibel,[...]. Ann Neurol 2007
8
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
7
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Matthis Synofzik, Rebecca Schüle. Mov Disord 2017
Matthis Synofzik, Rebecca Schüle. Mov Disord 2017
8
Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
13
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Joanna M Solowska, Peter W Baas. Brain 2015
Joanna M Solowska, Peter W Baas. Brain 2015
7
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
6
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B Laurent, Daniel Rochefort, Dan Spiegelman,[...]. Am J Hum Genet 2016
Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B Laurent, Daniel Rochefort, Dan Spiegelman,[...]. Am J Hum Genet 2016
9
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, Janel O Johnson, Camilo Toro, Katherine V Bricceno, Carlo Rinaldi, Katherine G Meilleur, Modibo Sangaré, Oumarou Diallo,[...]. Hum Mutat 2013
Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, Janel O Johnson, Camilo Toro, Katherine V Bricceno, Carlo Rinaldi, Katherine G Meilleur, Modibo Sangaré, Oumarou Diallo,[...]. Hum Mutat 2013
10
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
6
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
6
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
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
6
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L Loureiro, Michael A Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner,[...]. Am J Hum Genet 2013
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L Loureiro, Michael A Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner,[...]. Am J Hum Genet 2013
6
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
9
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A Sibtain, Helena Maier, Reza Sharifi, Michael A Patton, Wafa Bashir,[...]. Hum Mutat 2010
Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A Sibtain, Helena Maier, Reza Sharifi, Michael A Patton, Wafa Bashir,[...]. Hum Mutat 2010
6
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Amir Boukhris, Rebecca Schule, José L Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F Acosta Lebrigio,[...]. Am J Hum Genet 2013
Amir Boukhris, Rebecca Schule, José L Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F Acosta Lebrigio,[...]. Am J Hum Genet 2013
6
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.
Rachel Allison, James R Edgar, Guy Pearson, Tania Rizo, Timothy Newton, Sven Günther, Fiamma Berner, Jennifer Hague, James W Connell, Jürgen Winkler,[...]. J Cell Biol 2017
Rachel Allison, James R Edgar, Guy Pearson, Tania Rizo, Timothy Newton, Sven Günther, Fiamma Berner, Jennifer Hague, James W Connell, Jürgen Winkler,[...]. J Cell Biol 2017
6
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang,[...]. Mol Neurodegener 2018
En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang,[...]. Mol Neurodegener 2018
13
Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.
Felipe Franco da Graça, Thiago Junqueira Ribeiro de Rezende, Luiz Felipe Rocha Vasconcellos, José Luiz Pedroso, Orlando Graziani P Barsottini, Marcondes C França. Front Neurol 2019
Felipe Franco da Graça, Thiago Junqueira Ribeiro de Rezende, Luiz Felipe Rocha Vasconcellos, José Luiz Pedroso, Orlando Graziani P Barsottini, Marcondes C França. Front Neurol 2019
20
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
6
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Maryam Erfanian Omidvar, Shahram Torkamandi, Somaye Rezaei, Behnam Alipoor, Mir Davood Omrani, Hossein Darvish, Hamid Ghaedi. J Neurol 2021
Maryam Erfanian Omidvar, Shahram Torkamandi, Somaye Rezaei, Behnam Alipoor, Mir Davood Omrani, Hossein Darvish, Hamid Ghaedi. J Neurol 2021
25
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.