Research graph
References from Gene therapy in spinocerebellar ataxia (SCA). Local targets link to admitted publications; unresolved targets remain external evidence.
RNAi therapeutics: principles, prospects and challenges
10.1016/j.addr.2007.03.005 · 2007 · External reference
RNA interference: biology, mechanism, and applications
10.1128/mmbr.67.4.657-685.2003 · 2003 · External reference
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29
10.1073/pnas.1811129115 · 2018 · External reference
Effect of stem cell treatment on functional recovery of spinocerebellar ataxia: systematic review and meta-analysis
10.1186/s40673-021-00130-8 · 2021 · External reference
Use of riluzole for the treatment of hereditary ataxias: a systematic review
10.3390/brainsci12081040 · 2022 · External reference
Evidence of a common founder for SCA12 in the Indian population
10.1046/j.1529-8817.2005.00173.x · 2005 · External reference
Cerebellar ataxia and intrathecal baclofen therapy: focus on patients’ experiences
10.1371/journal.pone.0180054 · 2017 · External reference
The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
10.1038/ejhg.2009.215 · 2010 · External reference
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
10.1016/j.scr.2024.103462 · 2024 · External reference
Unresolved reference
2019 · External reference
Unresolved reference
2011 · External reference
A chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1
10.1002/mds.28355 · 2021 · External reference
Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice
10.1016/j.omtm.2022.04.004 · 2022 · External reference
Advances in CRISPR therapeutics
10.1038/s41581-022-00636-2 · 2023 · External reference
Unresolved reference
2005 · External reference
Endoplasmic reticulum stress: molecular mechanism and therapeutic targets
10.1038/s41392-023-01570-w · 2023 · External reference
Rehabilitation in patients with cerebellar ataxias
10.1590/0004-282x-anp-2021-0065 · 2022 · External reference
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
10.1016/s1474-4422(21)00457-9 · 2022 · External reference
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
10.1016/j.ejpn.2013.10.006 · 2014 · External reference
Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances
10.3389/fnins.2024.1422442 · 2024 · External reference
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
10.1093/brain/awu202 · 2014 · External reference
Spinocerebellar ataxia type 5
10.1016/b978-0-444-51892-7.00028-0 · 2012 · External reference
Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease
10.1038/mt.2013.144 · 2013 · External reference
Spinocerebellum ataxia type 6: molecular mechanisms and calcium channel genetics
10.1007/978-3-319-71779-1_7 · 2018 · External reference
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner
10.1007/s00018-015-1894-2 · 2015 · External reference
Molecular pathogenesis of spinocerebellar ataxias
10.1093/brain/awl081 · 2006 · External reference
Isolated palatal tremor as unique clinical manifestation of SCA 18 due to a new mutation of IFRD1
10.1016/j.parkreldis.2017.05.026 · 2017 · External reference
Molecular mechanisms and therapeutics for spinocerebellar ataxia type 2
10.1007/s13311-019-00777-6 · 2019 · External reference
Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons
10.1016/j.omtn.2024.102317 · 2024 · External reference
Overexpression of FKH-2/FOXG1 is neuroprotective in a C. elegans model of Machado-Joseph disease
10.1016/j.expneurol.2020.113544 · 2021 · External reference
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
10.1007/s12311-023-01540-6 · 2024 · External reference
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2
10.1001/archneurol.2009.291 · 2010 · External reference
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1
1996 · External reference
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
10.1186/1750-1172-8-14 · 2013 · External reference
Current and emerging treatment modalities for spinocerebellar ataxias
10.1080/14737175.2022.2029703 · 2022 · External reference
Piperine ameliorates SCA17 neuropathology by reducing ER stress
10.1186/s13024-018-0236-x · 2018 · External reference
RNA interference
10.1038/418244a · 2002 · External reference
Allele-specific targeting of mutant ataxin-3 by antisense oligonucleotides in SCA3-iPSC-derived neurons
10.1016/j.omtn.2021.11.015 · 2022 · External reference
CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells
10.1038/s41398-021-01605-2 · 2021 · External reference
Research progress and limitation analysis of RNA interference in Haemonchus contortus in China
10.3389/fvets.2023.1079676 · 2023 · External reference
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
10.1186/1750-1172-7-67 · 2012 · External reference
Insight into spinocerebellar ataxia type 31 (SCA31) from drosophila model
10.3389/fnins.2021.648133 · 2021 · External reference
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
10.1136/jmg.2007.053942 · 2008 · External reference
Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
10.1002/acn3.51875 · 2023 · External reference
Molecular pathogenesis of spinocerebellar ataxia type 1 disease
10.1007/s10059-009-0095-y · 2009 · External reference
RNAi or overexpression: alternative therapies for spinocerebellar ataxia type 1
10.1016/j.nbd.2013.04.003 · 2013 · External reference
Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy
10.1038/mt.2013.279 · 2014 · External reference
Translating RNAi therapy for Spinocerebellar Ataxia 1 to the clinic
10.1016/s1525-0016(16)33391-3 · 2016 · External reference
Spinocerebellar ataxia
10.1038/s41572-019-0074-3 · 2019 · External reference
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
10.1093/hmg/ddn283 · 2008 · External reference
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
10.1016/j.ajhg.2011.05.015 · 2011 · External reference
The pathogenesis of spinocerebellar ataxia
10.1080/14734220510007950 · 2005 · External reference
Successes and challenges in clinical gene therapy
10.1038/s41434-023-00390-5 · 2023 · External reference
Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression
10.1016/j.omtn.2019.12.012 · 2020 · External reference
Suppression of mutant protein expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide
10.1016/j.omtn.2019.07.004 · 2019 · External reference
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders
10.1038/s43856-023-00419-1 · 2024 · External reference
The Mechanisms of Nuclear Proteotoxicity in Polyglutamine Spinocerebellar Ataxias
10.3389/fnins.2020.00489 · 2020 · External reference
CRISPR/Cas9 therapeutics: progress and prospects
2023 · External reference
Current developments of gene therapy in human diseases
10.1002/mco2.645 · 2024 · External reference
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: video Documentation of a German Family
10.1002/mdc3.13717 · 2023 · External reference
Machado-Joseph disease and other rare spinocerebellar ataxias
10.1007/978-1-4614-0653-2_14 · 2012 · External reference
Unresolved reference
External reference
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs
10.1016/j.omtn.2017.06.017 · 2017 · External reference
Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice
10.1002/ana.26713 · 2023 · External reference
CRISPR-Cas9-directed gene therapy for spinocerebellar ataxia type 1
10.1016/j.omtn.2024.102377 · 2024 · External reference
Spinocerebellar ataxia type 3: response to levodopa infusion in two cases
10.1007/s10072-022-05962-8 · 2022 · External reference
Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models
10.1016/j.omtn.2017.04.005 · 2017 · External reference
Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line
10.1016/j.scr.2019.101504 · 2019 · External reference
Tremor in Spinocerebellar Ataxia: a Scoping Review
10.5334/tohm.911 · 2024 · External reference
Spinocerebellar ataxias (SCAs) caused by common mutations
10.1007/s10048-021-00662-5 · 2021 · External reference
The efficacy of primidone in reducing severe cerebellar tremors in patients with multiple sclerosis
10.1097/wnf.0b013e31826249bb · 2012 · External reference
Current concepts in the treatment of hereditary ataxias
10.1590/0004-282x20160038 · 2016 · External reference
Antisense Oligonucleotide Therapeutic Approach for Suppression of Ataxin-1 Expression: a Safety Assessment
10.1016/j.omtn.2020.07.030 · 2020 · External reference
Unresolved reference
External reference
Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias
10.1016/j.nrl.2015.06.004 · 2017 · External reference
Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells
10.1038/s41598-022-24299-y · 2022 · External reference
Unresolved reference
External reference
siRNA, miRNA, and shRNA: in vivo Applications
10.1177/154405910808701109 · 2008 · External reference
RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration
10.1371/journal.pone.0095362 · 2014 · External reference
Antisense oligonucleotides: the next frontier for treatment of neurological disorders
10.1038/nrneurol.2017.148 · 2018 · External reference
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
10.1159/000358801 · 2014 · External reference
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: novel Genetic Causes and New Diagnostic Approaches
10.1007/s12311-024-01703-z · 2024 · External reference
Gene therapy: comprehensive overview and therapeutic applications
10.1016/j.lfs.2022.120375 · 2022 · External reference
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
10.1016/s1474-4422(04)00737-9 · 2004 · External reference
ASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice
10.1016/j.ymthe.2024.02.033 · 2024 · External reference
Treatment Of Spinocerebellar Ataxia Type 2 (SCA2) with MOE Antisense Oligonucleotides (S47.006)
10.1212/wnl.82.10_supplement.s47.006 · 2014 · External reference
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
10.1038/nature22044 · 2017 · External reference
Spinocerebellar ataxia type 2
10.1007/978-3-319-71779-1_8 · 2018 · External reference
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
10.1016/j.ajhg.2017.06.007 · 2017 · External reference
CRISPR/Cas9-mediated genetic correction reverses spinocerebellar ataxia 3 disease-associated phenotypes in differentiated cerebellar neurons
10.1093/lifemedi/lnac020 · 2022 · External reference
Unresolved reference
2001 · External reference
Spinocerebellar ataxia: an update
10.1007/s00415-018-9076-4 · 2019 · External reference
Antisense Oligonucleotide Therapy for Spinocerebellar Ataxias: good News for Terrible Diseases
10.1002/mdc3.12627 · 2018 · External reference
Cervical Dystonia—A Rare Presentation of Spinocerebellar Ataxia Type 35
10.1007/s12098-022-04158-4 · 2022 · External reference
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice
10.1016/j.omtn.2017.06.019 · 2017 · External reference
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
10.1016/j.xhgg.2022.100137 · 2022 · External reference
Spinocerebellar ataxias in Asia: prevalence, phenotypes and management
10.1016/j.parkreldis.2021.10.023 · 2021 · External reference
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
10.1093/brain/awh276 · 2004 · External reference
Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice
10.1016/s0022-510x(00)00262-8 · 2000 · External reference
CRISPR technology: a decade of genome editing is only the beginning
10.1126/science.add8643 · 2023 · External reference
Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)
10.1074/jbc.m110.160697 · 2011 · External reference
Unresolved reference
External reference
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
10.1186/1750-1172-6-33 · 2011 · External reference
Coenzyme Q10 Supplementation Increases Removal of the ATXN3 Polyglutamine Repeat, Reducing Cerebellar Degeneration and Improving Motor Dysfunction in Murine Spinocerebellar Ataxia Type 3
10.3390/nu14173593 · 2022 · External reference
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia
10.1038/nm1076 · 2004 · External reference
CRISPR/Cas: advances, Limitations, and Applications for Precision Cancer Research
2021 · External reference
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4
10.1016/j.jlr.2021.100030 · 2021 · External reference
A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3
10.1212/wnl.0b013e318247cc7a · 2012 · External reference
Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice
10.1096/fj.202101356r · 2021 · External reference
Propranolol Modulates Cerebellar Circuit Activity and Reduces Tremor
10.3390/cells11233889 · 2022 · External reference
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
10.1038/sj.ejhg.5201018 · 2003 · External reference
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2
10.1001/archneurol.2009.291 · ExternalCitation · doi-reference
Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
10.1002/acn3.51875 · ExternalCitation · doi-reference
Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice
10.1002/ana.26713 · ExternalCitation · doi-reference
Current developments of gene therapy in human diseases
10.1002/mco2.645 · ExternalCitation · doi-reference
Antisense Oligonucleotide Therapy for Spinocerebellar Ataxias: good News for Terrible Diseases
10.1002/mdc3.12627 · ExternalCitation · doi-reference
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: video Documentation of a German Family
10.1002/mdc3.13717 · ExternalCitation · doi-reference
A chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1
10.1002/mds.28355 · ExternalCitation · doi-reference
Machado-Joseph disease and other rare spinocerebellar ataxias
10.1007/978-1-4614-0653-2_14 · ExternalCitation · doi-reference
Spinocerebellum ataxia type 6: molecular mechanisms and calcium channel genetics
10.1007/978-3-319-71779-1_7 · ExternalCitation · doi-reference
Spinocerebellar ataxia type 2
10.1007/978-3-319-71779-1_8 · ExternalCitation · doi-reference
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner
10.1007/s00018-015-1894-2 · ExternalCitation · doi-reference
Spinocerebellar ataxia: an update
10.1007/s00415-018-9076-4 · ExternalCitation · doi-reference
Spinocerebellar ataxias (SCAs) caused by common mutations
10.1007/s10048-021-00662-5 · ExternalCitation · doi-reference
Molecular pathogenesis of spinocerebellar ataxia type 1 disease
10.1007/s10059-009-0095-y · ExternalCitation · doi-reference
Spinocerebellar ataxia type 3: response to levodopa infusion in two cases
10.1007/s10072-022-05962-8 · ExternalCitation · doi-reference
Cervical Dystonia—A Rare Presentation of Spinocerebellar Ataxia Type 35
10.1007/s12098-022-04158-4 · ExternalCitation · doi-reference
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
10.1007/s12311-023-01540-6 · ExternalCitation · doi-reference
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: novel Genetic Causes and New Diagnostic Approaches
10.1007/s12311-024-01703-z · ExternalCitation · doi-reference
Molecular mechanisms and therapeutics for spinocerebellar ataxia type 2
10.1007/s13311-019-00777-6 · ExternalCitation · doi-reference
Spinocerebellar ataxia type 5
10.1016/b978-0-444-51892-7.00028-0 · ExternalCitation · doi-reference
RNAi therapeutics: principles, prospects and challenges
10.1016/j.addr.2007.03.005 · ExternalCitation · doi-reference
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
10.1016/j.ajhg.2011.05.015 · ExternalCitation · doi-reference
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
10.1016/j.ajhg.2017.06.007 · ExternalCitation · doi-reference
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
10.1016/j.ejpn.2013.10.006 · ExternalCitation · doi-reference
Overexpression of FKH-2/FOXG1 is neuroprotective in a C. elegans model of Machado-Joseph disease
10.1016/j.expneurol.2020.113544 · ExternalCitation · doi-reference
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4
10.1016/j.jlr.2021.100030 · ExternalCitation · doi-reference
Gene therapy: comprehensive overview and therapeutic applications
10.1016/j.lfs.2022.120375 · ExternalCitation · doi-reference
RNAi or overexpression: alternative therapies for spinocerebellar ataxia type 1
10.1016/j.nbd.2013.04.003 · ExternalCitation · doi-reference
Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias
10.1016/j.nrl.2015.06.004 · ExternalCitation · doi-reference
Combined overexpression of ATXN1L and mutant ATXN1 knockdown by AAV rescue motor phenotypes and gene signatures in SCA1 mice
10.1016/j.omtm.2022.04.004 · ExternalCitation · doi-reference
Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models
10.1016/j.omtn.2017.04.005 · ExternalCitation · doi-reference
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs
10.1016/j.omtn.2017.06.017 · ExternalCitation · doi-reference
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice
10.1016/j.omtn.2017.06.019 · ExternalCitation · doi-reference
Suppression of mutant protein expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide
10.1016/j.omtn.2019.07.004 · ExternalCitation · doi-reference
Universal RNAi Triggers for the Specific Inhibition of Mutant Huntingtin, Atrophin-1, Ataxin-3, and Ataxin-7 Expression
10.1016/j.omtn.2019.12.012 · ExternalCitation · doi-reference
Antisense Oligonucleotide Therapeutic Approach for Suppression of Ataxin-1 Expression: a Safety Assessment
10.1016/j.omtn.2020.07.030 · ExternalCitation · doi-reference
Allele-specific targeting of mutant ataxin-3 by antisense oligonucleotides in SCA3-iPSC-derived neurons
10.1016/j.omtn.2021.11.015 · ExternalCitation · doi-reference
Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons
10.1016/j.omtn.2024.102317 · ExternalCitation · doi-reference
CRISPR-Cas9-directed gene therapy for spinocerebellar ataxia type 1
10.1016/j.omtn.2024.102377 · ExternalCitation · doi-reference
Isolated palatal tremor as unique clinical manifestation of SCA 18 due to a new mutation of IFRD1
10.1016/j.parkreldis.2017.05.026 · ExternalCitation · doi-reference
Spinocerebellar ataxias in Asia: prevalence, phenotypes and management
10.1016/j.parkreldis.2021.10.023 · ExternalCitation · doi-reference
Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line
10.1016/j.scr.2019.101504 · ExternalCitation · doi-reference
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7
10.1016/j.scr.2024.103462 · ExternalCitation · doi-reference
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
10.1016/j.xhgg.2022.100137 · ExternalCitation · doi-reference
ASOs are an effective treatment for disease-associated oligodendrocyte signatures in premanifest and symptomatic SCA3 mice
10.1016/j.ymthe.2024.02.033 · ExternalCitation · doi-reference
Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice
10.1016/s0022-510x(00)00262-8 · ExternalCitation · doi-reference
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
10.1016/s1474-4422(04)00737-9 · ExternalCitation · doi-reference
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
10.1016/s1474-4422(21)00457-9 · ExternalCitation · doi-reference
Translating RNAi therapy for Spinocerebellar Ataxia 1 to the clinic
10.1016/s1525-0016(16)33391-3 · ExternalCitation · doi-reference
RNA interference
10.1038/418244a · ExternalCitation · doi-reference
The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
10.1038/ejhg.2009.215 · ExternalCitation · doi-reference
Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease
10.1038/mt.2013.144 · ExternalCitation · doi-reference
Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy
10.1038/mt.2013.279 · ExternalCitation · doi-reference
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
10.1038/nature22044 · ExternalCitation · doi-reference
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia
10.1038/nm1076 · ExternalCitation · doi-reference
Antisense oligonucleotides: the next frontier for treatment of neurological disorders
10.1038/nrneurol.2017.148 · ExternalCitation · doi-reference
Endoplasmic reticulum stress: molecular mechanism and therapeutic targets
10.1038/s41392-023-01570-w · ExternalCitation · doi-reference
CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells
10.1038/s41398-021-01605-2 · ExternalCitation · doi-reference
Successes and challenges in clinical gene therapy
10.1038/s41434-023-00390-5 · ExternalCitation · doi-reference
Spinocerebellar ataxia
10.1038/s41572-019-0074-3 · ExternalCitation · doi-reference
Advances in CRISPR therapeutics
10.1038/s41581-022-00636-2 · ExternalCitation · doi-reference
Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells
10.1038/s41598-022-24299-y · ExternalCitation · doi-reference
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders
10.1038/s43856-023-00419-1 · ExternalCitation · doi-reference
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
10.1038/sj.ejhg.5201018 · ExternalCitation · doi-reference
Evidence of a common founder for SCA12 in the Indian population
10.1046/j.1529-8817.2005.00173.x · ExternalCitation · doi-reference
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29
10.1073/pnas.1811129115 · ExternalCitation · doi-reference
Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)
10.1074/jbc.m110.160697 · ExternalCitation · doi-reference
The pathogenesis of spinocerebellar ataxia
10.1080/14734220510007950 · ExternalCitation · doi-reference
Current and emerging treatment modalities for spinocerebellar ataxias
10.1080/14737175.2022.2029703 · ExternalCitation · doi-reference
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
10.1093/brain/awh276 · ExternalCitation · doi-reference
Molecular pathogenesis of spinocerebellar ataxias
10.1093/brain/awl081 · ExternalCitation · doi-reference
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
10.1093/brain/awu202 · ExternalCitation · doi-reference
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
10.1093/hmg/ddn283 · ExternalCitation · doi-reference
CRISPR/Cas9-mediated genetic correction reverses spinocerebellar ataxia 3 disease-associated phenotypes in differentiated cerebellar neurons
10.1093/lifemedi/lnac020 · ExternalCitation · doi-reference
Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice
10.1096/fj.202101356r · ExternalCitation · doi-reference
The efficacy of primidone in reducing severe cerebellar tremors in patients with multiple sclerosis
10.1097/wnf.0b013e31826249bb · ExternalCitation · doi-reference
CRISPR technology: a decade of genome editing is only the beginning
10.1126/science.add8643 · ExternalCitation · doi-reference
RNA interference: biology, mechanism, and applications
10.1128/mmbr.67.4.657-685.2003 · ExternalCitation · doi-reference
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
10.1136/jmg.2007.053942 · ExternalCitation · doi-reference
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
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