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Abbreviation : SCA
Long Form : spinocerebellar ataxia
No. Year Title Co-occurring Abbreviation
2019 Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades. ---
2019 Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia. ERD
2019 Estimation of skeletal muscle mass in patients with spinocerebellar ataxia type 3 and 10. ---
2019 Facial grimacing and clinical correlates in spinocerebellar ataxia type 3. FG, OMD, SCA3
2019 Guidelines on the diagnosis and management of the progressive ataxias. FRDA, G-I-N, HCPs
2019 Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient. IOP, SCA1
2019 Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy. ---
2019 Nerve ultrasound as a diagnostic tool for sensory neuronopathy in spinocerebellar ataxia syndrome. CANVAS, ROC, SCA2
2019 Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. ALS, ATL1, HSPs, MLPA, NGS, VUS
10  2019 Predictive equations for muscle mass in patients with spinocerebellar ataxia. BIA
11  2019 Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia: A Pilot Randomized Controlled Trial. rTMS, SARA, TUG
12  2019 Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models. CHM, G. uralensis, NFYA, Nrf2, P. lactiflora, PGC-1alpha, SCA17, SG-Tang, TBP
13  2019 Spinocerebellar ataxia: an update. ---
14  2018 A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review. CACNA1G, MRI, SCA42
15  2018 A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. CAs, HCBS, PMH
16  2018 A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. AR
17  2018 Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy. MSA
18  2018 Assessment of Sleep Spindle Density among Genetically Positive Spinocerebellar Ataxias Types 1, 2, and 3 Patients. SS, SSDs
19  2018 Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes. DTI, FBA
20  2018 Ca2+ signaling and spinocerebellar ataxia. PCs
21  2018 Can pre-screening vestibulocerebellar involvement followed by targeted training improve the outcomes of balance in cerebellar ataxia? CA, cSVV, SVV
22  2018 CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. HSP
23  2018 Cerebellar transcranial magnetic stimulation facilitates excitability of spinal reflex, but does not affect cerebellar inhibition and facilitation in spinocerebellar ataxia. CBI, CSpF, TMS
24  2018 Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. ---
25  2018 Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia. ---
26  2018 d-Cysteine promotes dendritic development in primary cultured cerebellar Purkinje cells via hydrogen sulfide production. DAO, PCs
27  2018 Diagnosis of polyglutamine spinocerebellar ataxias by polymerase chain reaction amplification and Sanger sequencing. PCR
28  2018 DNAJ Proteins in neurodegeneration: essential and protective factors. ALS, FTD
29  2018 Evaluation of Various Movement Disorders in Patients of Genetically Proven Spinocerebellar Ataxia: A Study from a Tertiary Care Center in Northern India. ---
30  2018 Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. FMR1, FXTAS, NGS
31  2018 Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements. CCFS, FRDA, SARA
32  2018 Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA). NGS, NSD1, WES
33  2018 Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients. DRPLA, HD, MSA
34  2018 Neuronal activity and outcomes from thalamic surgery for spinocerebellar ataxia. DBS, ET, VIM
35  2018 Optokinetic nystagmus in patients with SCA: A bedside test for oculomotor dysfunction grading. ICARS, OKN
36  2018 Partial Body Weight-Supported Treadmill Training in Spinocerebellar Ataxia. BWS
37  2018 Proteolysis: a double-edged sword for the development of amyloidoses. ALS, HD
38  2018 Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease. MJD, MSCs
39  2018 Self-Organized Cerebellar Tissue from Human Pluripotent Stem Cells and Disease Modeling with Patient-Derived iPSCs. hPSCs, iPSCs
40  2018 Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation. MJD, SCA3
41  2018 Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ---
42  2018 Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis. ---
43  2018 Spinocerebellar Ataxia Type 17 (SCA17). SCA17, SCA17, TBP
44  2018 Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. IRES, ORF
45  2018 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. array-CGH, CNVs, DSD, SNVs
46  2018 Transcriptional Dysregulation and Post-translational Modifications in Polyglutamine Diseases: From Pathogenesis to Potential Therapeutic Strategies. DRPLA, HD, SBMA
47  2018 Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1. ---
48  2018 [Clinical features of 63 patients with ataxia]. MSA-C
49  2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. ---
50  2017 Caffeine alleviates progressive motor deficits in a transgenic mouse model of spinocerebellar ataxia. MJD
51  2017 Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice. DRG, ITPR1
52  2017 Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients. fMRI, HCs, MRI
53  2017 Clinical features of Chinese patients with Gerstmann-Straussler-Scheinker identified by targeted next-generation sequencing. GSS
54  2017 Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. DRPLA
55  2017 Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. 18F-FDG PET, ANT, ANTV, CCD, DN, MSA-C
56  2017 Early strong intrathecal inflammation in cerebellar type multiple system atrophy by cerebrospinal fluid cytokine/chemokine profiles: a case control study. CSF, GM-CSF, HCBS, IL, MCP-1, MIP, MSA-C, OND
57  2017 Ethical considerations in presymptomatic diagnosis of autosomal dominant spinocerebellar ataxias. PSD
58  2017 Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort. DRPLA, MSA-C
59  2017 Health-related quality of life in patients with spinocerebellar ataxia. HRQoL
60  2017 Human Olfactory Ensheathing Cell Transplantation Improves Motor Function in a Mouse Model of Type 3 Spinocerebellar Ataxia. hOECs, RyR, SCA3
61  2017 Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. PKCgamma, SCA14
62  2017 Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases. ALS, CMT, EALS, HSP, LSDs, MSA, PD
63  2017 Low cancer prevalence in polyglutamine expansion diseases. CI, HD, SIR
64  2017 Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31. NMOSD
65  2017 Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study. ---
66  2017 Operation of a P300-based brain-computer interface by patients with spinocerebellar ataxia. BCI
67  2017 Principal component analysis for ataxic gait using a triaxial accelerometer. MSA-C, PCA, PCS, SARA
68  2017 Rescue of ATXN3 neuronal toxicity in Caenorhabditiselegans by chemical modification of endoplasmic reticulum stress. ER, MJD, SCA3, UPRER
69  2017 SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. FDG-PET, SCA28
70  2017 SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. SCA42
71  2017 Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders. BD-PCR, FRDA, PCR, TRDs
72  2017 Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration. ---
73  2017 Stratification of disease progression in a broad spectrum of degenerative cerebellar ataxias with a clustering method using MRI-based atrophy rates of brain structures. Adx, CCA, ICARS, MRI, Vdx
74  2017 Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions. DM1, HD, STRs
75  2017 The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review. ALS, CMT, HSP, NGS, PD
76  2016 A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7. INAS, SARA
77  2016 Automated cerebellar lobule segmentation with application to cerebellar structural analysis in cerebellar disease. ---
78  2016 Azadiradione ameliorates polyglutamine expansion disease in Drosophila by potentiating DNA binding activity of heat shock factor 1. AZD, HSF1, NDs
79  2016 C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China. ALS, FTD
80  2016 Clinical trial perspective for adult and juvenile Huntington's disease using genetically-engineered mesenchymal stem cells. ALS, BDNF, HD, MSC
81  2016 Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy. DRPLA, MJD, SCD
82  2016 Depression as the Primary Cause of Insomnia and Excessive Daytime Sleepiness in a Family with Multiple Cases of Spinocerebellar Ataxia. EDS
83  2016 Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6. FA
84  2016 Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. GWAS, JRT, LOA, PRT
85  2016 Heat shock proteins as potential targets for protective strategies in neurodegeneration. HSPs
86  2016 In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model. CHZ, i.p, PCs
87  2016 Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy. AR, ENMC, SBMA
88  2016 Leukocyte glucocerebrosidase and beta-hexosaminidase activity in sporadic and genetic Parkinson disease. PBLs, sPD
89  2016 Modulation, Plasticity and Pathophysiology of the Parallel Fiber-Purkinje Cell Synapse. AMPA, LTD, LTP, PF-PC
90  2016 NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation. MJD, NREM, PLMSi, PSG, REM, RLS, SCA3
91  2016 Pain in Neurodegenerative Disease: Current Knowledge and Future Perspectives. AD, HD, MND, PD, SMA
92  2016 Peripheral arterial endothelial dysfunction of neurodegenerative diseases. ALS, FRS-R, H-Y, IRI, MIBG, MSA, PD, PSP, RHI, TG
93  2016 Spinocerebellar ataxia type 36 in the Han Chinese. ALS, NOP56, SCA36
94  2016 Spinocerebellar ataxia: relationship between phenotype and genotype - a review. ---
95  2016 Trial-to-trial Adaptation: Parsing out the Roles of Cerebellum and BG in Predictive Motor Timing. ---
96  2016 Vestibulo-ocular reflex dynamics withhead-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 andFriedreich ataxia. FA, VOR
97  2016 Writer's cramp in spinocerebellar ataxia Type 1. SCA1
98  2015 A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. iPSCs
99  2015 A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. SCAs
100  2015 A review of 18p deletions. FSHD