Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
Times Cited: 243
Times Cited: 243
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
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
19
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
18
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
John K Fink. Acta Neuropathol 2013
14
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
15
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
14
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
13
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
15
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
12
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
18
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
12
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
25
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
25
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
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
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
23
Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.
Jillian Friedrich, Holly B Kordasiewicz, Brennon O'Callaghan, Hillary P Handler, Carmen Wagener, Lisa Duvick, Eric E Swayze, Orion Rainwater, Bente Hofstra, Michael Benneyworth,[...]. JCI Insight 2018
Jillian Friedrich, Holly B Kordasiewicz, Brennon O'Callaghan, Hillary P Handler, Carmen Wagener, Lisa Duvick, Eric E Swayze, Orion Rainwater, Bente Hofstra, Michael Benneyworth,[...]. JCI Insight 2018
25
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
17
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
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
9
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
9
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghbi. Nat Genet 1993
H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghbi. Nat Genet 1993
9
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.
Chenchen Niu, Thazah P Prakash, Aneeza Kim, John L Quach, Laryssa A Huryn, Yuechen Yang, Edith Lopez, Ali Jazayeri, Gene Hung, Bryce L Sopher,[...]. Sci Transl Med 2018
Chenchen Niu, Thazah P Prakash, Aneeza Kim, John L Quach, Laryssa A Huryn, Yuechen Yang, Edith Lopez, Ali Jazayeri, Gene Hung, Bryce L Sopher,[...]. Sci Transl Med 2018
28
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
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
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
25
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Deller. Prog Neurobiol 2013
Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Deller. Prog Neurobiol 2013
8
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
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
8
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.
P Trouillas, T Takayanagi, M Hallett, R D Currier, S H Subramony, K Wessel, A Bryer, H C Diener, S Massaquoi, C M Gomez,[...]. J Neurol Sci 1997
P Trouillas, T Takayanagi, M Hallett, R D Currier, S H Subramony, K Wessel, A Bryer, H C Diener, S Massaquoi, C M Gomez,[...]. J Neurol Sci 1997
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
32
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
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
B P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, H Scheffer, E R Brunt, P F Ippel, J A Maat-Kievit, D Dooijes, N C Notermans, D Lindhout,[...]. Neurology 2002
B P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, H Scheffer, E R Brunt, P F Ippel, J A Maat-Kievit, D Dooijes, N C Notermans, D Lindhout,[...]. Neurology 2002
8
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
11
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
Giovanna De Michele, Maria Lieto, Daniele Galatolo, Elena Salvatore, Sirio Cocozza, Melissa Barghigiani, Alessandra Tessa, Jacopo Baldacci, Sabina Pappatà, Alessandro Filla,[...]. Parkinsonism Relat Disord 2019
Giovanna De Michele, Maria Lieto, Daniele Galatolo, Elena Salvatore, Sirio Cocozza, Melissa Barghigiani, Alessandra Tessa, Jacopo Baldacci, Sabina Pappatà, Alessandro Filla,[...]. Parkinsonism Relat Disord 2019
30
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
20
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
10
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, Peter Bauer, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Anna Sulek, Alexandra Durr, Perrine Charles,[...]. Lancet Neurol 2013
Heike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, Peter Bauer, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Anna Sulek, Alexandra Durr, Perrine Charles,[...]. Lancet Neurol 2013
7
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
7
Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
7
The cerebellar cognitive affective/Schmahmann syndrome scale.
Franziska Hoche, Xavier Guell, Mark G Vangel, Janet C Sherman, Jeremy D Schmahmann. Brain 2018
Franziska Hoche, Xavier Guell, Mark G Vangel, Janet C Sherman, Jeremy D Schmahmann. Brain 2018
7
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
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
H L Paulson, M K Perez, Y Trottier, J Q Trojanowski, S H Subramony, S S Das, P Vig, J L Mandel, K H Fischbeck, R N Pittman. Neuron 1997
H L Paulson, M K Perez, Y Trottier, J Q Trojanowski, S H Subramony, S S Das, P Vig, J L Mandel, K H Fischbeck, R N Pittman. Neuron 1997
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
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi,[...]. Nat Genet 1996
K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi,[...]. Nat Genet 1996
7
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
9
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
7
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
7
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
26
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.