Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
Times Cited: 286
Times Cited: 286
Times Cited
Times Co-cited
Similarity
Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
21
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
21
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
John K Fink. Acta Neuropathol 2013
19
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
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
18
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: 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
21
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
28
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
14
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
26
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
13
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
13
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
13
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
12
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
12
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
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
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
13
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira,[...]. JAMA Neurol 2013
Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira,[...]. JAMA Neurol 2013
15
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
11
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
17
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
27
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
16
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
9
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
9
Spinocerebellar ataxia: an update.
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
13
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
David Genis, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Laura de Jorge, Eva López, Berta Campos, Elena Lorenzo, Raúl Tonda,[...]. Neurology 2018
David Genis, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Laura de Jorge, Eva López, Berta Campos, Elena Lorenzo, Raúl Tonda,[...]. Neurology 2018
16
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini,[...]. Front Neurol 2018
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini,[...]. Front Neurol 2018
22
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis,[...]. Nature 2017
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis,[...]. Nature 2017
8
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
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
28
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
19
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
8
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
Steven Havlicek, Zacharias Kohl, Himanshu K Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C N Marchetto,[...]. Hum Mol Genet 2014
Steven Havlicek, Zacharias Kohl, Himanshu K Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C N Marchetto,[...]. Hum Mol Genet 2014
10
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
8
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà,[...]. Eur J Neurol 2020
M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, S Cocozza, G Pontillo, R Trovato, F Saccà,[...]. Eur J Neurol 2020
26
Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice.
Hayley S McLoughlin, Lauren R Moore, Ravi Chopra, Robert Komlo, Megan McKenzie, Kate G Blumenstein, Hien Zhao, Holly B Kordasiewicz, Vikram G Shakkottai, Henry L Paulson. Ann Neurol 2018
Hayley S McLoughlin, Lauren R Moore, Ravi Chopra, Robert Komlo, Megan McKenzie, Kate G Blumenstein, Hien Zhao, Holly B Kordasiewicz, Vikram G Shakkottai, Henry L Paulson. Ann Neurol 2018
9
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
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
21
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
7
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
8
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
Joanna M Solowska, James Y Garbern, Peter W Baas. Hum Mol Genet 2010
Joanna M Solowska, James Y Garbern, Peter W Baas. Hum Mol Genet 2010
15
Spinocerebellar ataxias: prospects and challenges for therapy development.
Tetsuo Ashizawa, Gülin Öz, Henry L Paulson. Nat Rev Neurol 2018
Tetsuo Ashizawa, Gülin Öz, Henry L Paulson. Nat Rev Neurol 2018
8
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli. Neurogenetics 2018
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli. Neurogenetics 2018
24
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
16
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
29
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
7
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli,[...]. Lancet Neurol 2015
Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli,[...]. Lancet Neurol 2015
7
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.
Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau,[...]. Cerebellum 2019
Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau,[...]. Cerebellum 2019
15
Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.
Giulia Coarelli, Alexis Brice, Alexandra Durr. F1000Res 2018
Giulia Coarelli, Alexis Brice, Alexandra Durr. F1000Res 2018
24
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
8
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.