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Times Cited: 226
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
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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.
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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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Alexandra Durr. Lancet Neurol 2010
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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
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Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
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Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
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Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
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Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
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Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
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Update on the Genetics of Spastic Paraplegias.
Maxime Boutry, Sara Morais, Giovanni Stevanin. Curr Neurol Neurosci Rep 2019
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
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International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology.
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Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
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Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.
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Spinocerebellar ataxia: an update.
Roisin Sullivan, Wai Yan Yau, Emer O'Connor, Henry Houlden. J Neurol 2019
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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
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Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
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Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models.
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Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
Raphael Machado de Castilhos, Gabriel Vasata Furtado, Tailise Conte Gheno, Paola Schaeffer, Aline Russo, Orlando Barsottini, José Luiz Pedroso, Diego Z Salarini, Fernando Regla Vargas, Maria Angélica de Faria Domingues de Lima,[...]. Cerebellum 2014
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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
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Hereditary spastic paraplegia: clinical principles and genetic advances.
John K Fink. Semin Neurol 2014
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Hereditary spastic paraplegia: More than an upper motor neuron disease.
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
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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
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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
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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
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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Tetsuo Ashizawa, Karla P Figueroa, Susan L Perlman, Christopher M Gomez, George R Wilmot, Jeremy D Schmahmann, Sarah H Ying, Theresa A Zesiewicz, Henry L Paulson, Vikram G Shakkottai,[...]. Orphanet J Rare Dis 2013
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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
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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
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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
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Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice.
Lodewijk J A Toonen, Frank Rigo, Haico van Attikum, Willeke M C van Roon-Mom. Mol Ther Nucleic Acids 2017
Lodewijk J A Toonen, Frank Rigo, Haico van Attikum, Willeke M C van Roon-Mom. Mol Ther Nucleic Acids 2017
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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
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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.