CureSCA-12

Research

Everything published on SCA-12

SCA-12 was identified in 1999. Since then 98 papers have carried it in their title. All of them are listed here, year by year, each linked to its source.

98

papers listed

1999–2026

years covered

60

journals and books

187

further related papers

The shape of the field

A quiet twenty years, then a sharp rise

For two decades after SCA-12 was named, a handful of papers appeared each year. Since 2021 that has changed markedly. For a condition this rare, a rising line is the most hopeful thing on this page.

0612 1 paper in 19990 papers in 20006 papers in 20012 papers in 20022 papers in 20033 papers in 20042 papers in 20050 papers in 20060 papers in 20072 papers in 20083 papers in 20094 papers in 20104 papers in 20112 papers in 20121 paper in 20134 papers in 20144 papers in 20154 papers in 20161 paper in 20172 papers in 20184 papers in 20191 paper in 202010 papers in 20215 papers in 20224 papers in 202312 papers in 20244 papers in 202511 papers in 2026 (year still in progress) 1211 199920052010201520202026
Papers per year whose title names SCA-12 or PPP2R2B. Select a column to jump to that year. 2026 is still in progress.

How understanding developed

3 turning points

The chart shows how much was published. This is the short version of what changed.

  1. 1999

    SCA-12 is first identified

    SCA-12 was described as a distinct form of spinocerebellar ataxia and linked to an expanded CAG repeat in the PPP2R2B gene on chromosome 5. This is what made it possible to identify SCA-12 specifically, rather than grouping it with other ataxias.

    Holmes et al., Nature Genetics, 1999

  2. 2000s

    Recognised as a significant cause of ataxia in India

    Reports from Indian centres established that SCA-12, while rare worldwide, accounts for a meaningful share of inherited ataxia diagnoses in parts of North India. Much of the clinical description of SCA-12 comes from this work.

    Srivastava et al., Annals of Neurology, 2001

  3. Today

    Clinical description continues to be refined

    Cohort studies and review articles continue to sharpen the picture of how SCA-12 presents, how it progresses, and how it differs from other ataxias. The full publication library below tracks what has been published, year by year.

The library

Every paper, year by year

Every paper indexed in PubMed whose title names SCA-12 or the PPP2R2B gene, newest first, compiled on 7 September 2026. Papers PubMed does not index are added by hand and marked as such. Listing a paper is not an endorsement of anything it discusses.

2026 11

  1. Abnormal Amyloidogenesis Identified in Plasma of Patients with Spinocerebellar Ataxia Type 12

    Banerjee R, Sengupta S, Rungta J et al. · Cerebellum (London, England)

  2. Characterizing cranial tremors in a case of spinocerebellar ataxia type 12: a unique positional tremor

    Jha S, Mukherjee A, Gohel AB et al. · Acta neurologica Belgica

  3. Establishment of four induced pluripotent stem cell lines (IGIBi028-A, IGIBi029-A, IGIBi030-A, and IGIBi031-A) from peripheral blood derived cells of Spinocerebellar ataxia Type 12 patients

    Ahmad I, Reza S, Singh N et al. · Stem cell research

  4. Machine Learning Aided Kinematic Profiling of Reaching Movements Separates Spinocerebellar Ataxia type 12 and Essential Tremor

    Bayen AB, Choudhury S, Majumdar S et al. · Cerebellum (London, England)

  5. Metabolic and Structural Insights of Cerebellar Dysfunction in Spinocerebellar Ataxia Type 12

    Pankaj P, Kumaran SS, Srivastava AK et al. · Magnetic resonance in chemistry : MRC

  6. Mitochondrial quality control gene expression in peripheral blood mononuclear cells of SCA12 patients

    Ansari S, Rungta J, Banerjee R et al. · Parkinsonism & related disorders

  7. PPP2R2B targets the JAK2-STAT3 signaling pathway to regulate ferroptosis in breast cancer cells

    Luo W, Yang M, Tan Y et al. · Biochemistry and cell biology = Biochimie et biologie cellulaire

  8. Propranolol for Tremors in Spinocerebellar Ataxia Type 12: A Randomized Clinical Trial

    Mohapatra P, Kumar Srivastava A, Garg D et al. · Movement disorders : official journal of the Movement Disorder Society

  9. Spinocerebellar ataxia type 12 in a 52-year-old female

    Bose R, Smith A · The New Zealand medical journal

  10. Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features

    Rafiei MA, Sadeghzadeh S, Salari M et al. · Neuro-degenerative diseases · Review

  11. TBX1 suppresses colorectal cancer cells via PPP2R2B-mediated inhibition of MAPK/ERK and PI3K/AKT pathways

    Zhao M, Wang J, Xie JY et al. · Cellular signalling

2025 4

  1. CAG Repeat Instability and Region-Specific Gene Expression Changes in the SCA12 Brain

    Parthaje S, Janardhanan M, Paul P et al. · Cerebellum (London, England)

  2. De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

    Sandal P, Jong CJ, Merrill RA et al. · Human molecular genetics

  3. Posterior Subthalamic Area Deep Brain Stimulation Combined with Spinal Cord Stimulation in a Patient with Spinocerebellar Ataxia Type 12

    Shen R, Zhou Z, Lin Z et al. · Movement disorders clinical practice

  4. PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis

    Li N, Hou H, Su D et al. · Autophagy

2024 12

  1. Abnormal cortical excitability in patients with spinocerebellar ataxia type 12

    Bhattacharya A, Stezin A, Kamble N et al. · Parkinsonism & related disorders

  2. Bilateral Deep Brain Stimulation of Posterior Subthalamic Area in Patient with Spinocerebellar Ataxia Type 12

    Sun YM, Lang LQ, Zhou XY et al. · Movement disorders clinical practice

  3. Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor

    Luo W, Zheng X, Lin Z et al. · Tremor and other hyperkinetic movements (New York, N.Y.)

  4. Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

    Shen D, Kang S · Biology direct

  5. Correction: Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway

    Shen D, Kang S · Biology direct

  6. Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing

    Liu HB, Dong T, Deng L et al. · Stem cell research

  7. Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

    Zahra S, Kapoor H, Ahmad I et al. · Stem cell research

  8. Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis

    Agrawal S, Agrawal RK, Kumaran SS et al. · Cerebral cortex (New York, N.Y. : 1991)

  9. Non-motor symptoms in patients with Spinocerebellar ataxia type 12

    Basu P, Choudhury S, Mondal SS et al. · Frontiers in neurology

  10. Nuclear translocation of ISG15 regulated by PPP2R2B inhibits cisplatin resistance of bladder cancer

    Huang G, Liu J, Yu A et al. · Cellular and molecular life sciences : CMLS

  11. Role of Bβ1 overexpression in the pathogenesis of SCA12

    Zhou C, Tang F, Dong T et al. · Movement disorders : official journal of the Movement Disorder Society

  12. Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B-Related Spinocerebellar Ataxia

    Neo S, Magrinelli F, Cordivari C et al. · Movement disorders clinical practice

2023 4

  1. Bidirectional transcription at the PPP2R2B gene locus in spinocerebellar ataxia type 12

    Zhou C, Liu HB, Bakhsh FJ et al. · bioRxiv : the preprint server for biology

  2. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12

    Zhou C, Liu HB, Jahanbakhsh F et al. · Movement disorders : official journal of the Movement Disorder Society

  3. HOXC6 drives a therapeutically targetable pancreatic cancer growth and metastasis pathway by regulating MSK1 and PPP2R2B

    Malvi P, Chava S, Cai G et al. · Cell reports. Medicine

  4. PSP-Like Phenotype in Genetically Confirmed SCA12

    Chatterpal P, Radhakrishnan DM, Garg A et al. · Movement disorders clinical practice

2022 5

  1. Clinical and Preclinical Neuroimaging Changes in Spinocerebellar Ataxia Type 12: A Study of Three Chinese Pedigrees

    Yao T, Qiao H, Sun J et al. · European neurology

  2. Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

    Ganaraja VH, Holla VV, Stezin A et al. · Tremor and other hyperkinetic movements (New York, N.Y.)

  3. Magnetic Resonance Imaging-Guided Focused Ultrasound Thalamotomy in Spinocerebellar Ataxia Type 12

    Purrer V, Upadhyay N, Pieper CC et al. · Movement disorders : official journal of the Movement Disorder Society

  4. Spinocerebellar Ataxia 12 Patients have better Quality of Life than Spinocerebellar Ataxia 1 and 2

    Dabla S, Garg D, Aggarwal R et al. · Annals of Indian Academy of Neurology

  5. Study of 2D Feature Extraction Techniques for Classification of Spinocerebellar Ataxia Type 12 (SCA12)

    Agrawal S, Kumaran SS, Srivastava AK et al. · Studies in health technology and informatics

2021 10

  1. A longitudinal quantitative analysis of gait in patients with SCA-12

    Siddique U, Choudhury S, Chatterjee K et al. · Clinical parkinsonism & related disorders

  2. Associations between polymorphisms of SLC22A7, NGFR, ARNTL and PPP2R2B genes and Milk production traits in Chinese Holstein

    Jia R, Fu Y, Xu L et al. · BMC genomic data

  3. Asymmetry of Tremor in Spinocerebellar Ataxia 12- Exception or Rule?

    Bhansali S, Choudhury S, Siddique U et al. · Movement disorders clinical practice

  4. Cognitive impairment in spinocerebellar ataxia type 12

    Agarwal A, Kaur H, Agarwal A et al. · Parkinsonism & related disorders

  5. Commentary: Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

    Lang AE, Bhattad S, Rawat CS et al. · Movement disorders clinical practice

  6. Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing

    Feng H, Li Q, Margolis RL et al. · Stem cell research

  7. Impact of SARS-CoV-2 Infection in Spinocerebellar Ataxia 12 Patients

    Singh I, Swarup V, Shakya S et al. · Movement disorders : official journal of the Movement Disorder Society

  8. Monochorea of the Upper Limb in a Patient with Spinocerebellar Ataxia Type 12

    Bhattad S, Rawat CS, Pandey S · Movement disorders clinical practice

  9. PPP2R2B downregulation is associated with immune evasion and predicts poor clinical outcomes in triple-negative breast cancer

    Li Z, Li Y, Wang X et al. · Cancer cell international

  10. Spinocerebellar Ataxia Type 12 with an Atypical Ethnicity: A Report of 2 Families

    Holla VV, Prasad S, Kamble N et al. · Annals of Indian Academy of Neurology

2020 1

  1. Variants in PPP2R2B and IGF2BP3 are associated with higher tau deposition

    Ramanan VK, Wang X, Przybelski SA et al. · Brain communications

2019 4

  1. Abnormal DaTSCAN and Atypical Parkinsonism in SCA12

    Latorre A, Del Gamba C, Menozzi E et al. · Movement disorders clinical practice

  2. PPP2R2B hypermethylation causes acquired apoptosis deficiency in systemic autoimmune diseases

    Madera-Salcedo IK, Sánchez-Hernández BE, Svyryd Y et al. · JCI insight

  3. Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

    Rossi J, Cavallieri F, Giovannini G et al. · Neurogenetics

  4. Spinocerebellar Ataxia Type 12: An Update

    Annals of Movement Disorders · Review · Added by hand

2018 2

  1. Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India

    Choudhury S, Chatterjee S, Chatterjee K et al. · Movement disorders clinical practice

  2. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

    Aydin G, Dekomien G, Hoffjan S et al. · BMC neurology

2017 1

  1. Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B

    Srivastava AK, Takkar A, Garg A et al. · Brain : a journal of neurology

2016 4

  1. Exploration of CAG triplet repeat in nontranslated region of SCA12 gene

    Lone WG, Khan IA, Poornima S et al. · Journal of genetics

  2. Huntington's disease-like presentation in Spinocerebellar ataxia type 12

    Groppo E, Armaroli A, Selvatici R et al. · Movement disorders : official journal of the Movement Disorder Society

  3. Spinocerebellar ataxia type 12: clues to pathogenesis

    Cohen RL, Margolis RL · Current opinion in neurology · Review

  4. Wnt pathway antagonists, SFRP1, SFRP2, SOX17, and PPP2R2B, are methylated in gliomas and SFRP1 methylation predicts shorter survival

    Majchrzak-Celińska A, Słocińska M, Barciszewska AM et al. · Journal of applied genetics

2015 4

  1. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

    Choubtum L, Witoonpanich P, Hanchaiphiboolkul S et al. · BMC neurology

  2. Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12

    Dong Y, Wu JJ, Wu ZY · Parkinsonism & related disorders

  3. Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

    O'Hearn EE, Hwang HS, Holmes SE et al. · Movement disorders : official journal of the Movement Disorder Society

  4. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12

    Hu T, Zhao B, Wei QQ et al. · Journal of the neurological sciences

2014 4

  1. Diffusion tensor imaging of spinocerebellar ataxia type 12

    Li H, Ma J, Zhang X · Medical science monitor : international medical journal of experimental and clinical research

  2. Dystonic Tremor and Spasmodic Dysphonia in Spinocerebellar Ataxia Type 12

    Ganos C, Saifee TA, Kassavetis P et al. · Movement disorders clinical practice

  3. Identification of FXTAS presenting with SCA 12 like phenotype in India

    Faruq M, Srivastava AK, Suroliya V et al. · Parkinsonism & related disorders

  4. Tremor in Spinocerebellar Ataxia Type 12

    Kalia LV, Rockman-Greenberg C, Borys A et al. · Movement disorders clinical practice

2013 1

  1. Differential autophagic cell death under stress with ectopic cytoplasmic and mitochondrial-specific PPP2R2B in human neuroblastoma cells

    Fang K, Li HF, Hsieh CH et al. · Apoptosis : an international journal on programmed cell death

2012 2

  1. Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12

    Swarup V, Srivastava AK, Rajeswari MR · Neuroscience research

  2. Spinocerebellar ataxia type 12

    O'Hearn E, Holmes SE, Margolis RL · Handbook of clinical neurology · Review

2011 4

  1. [Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12]

    LI HT, LEI J, MA JH et al. · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  2. A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrence

    Vazquez A, Kulkarni D, Grochola LF et al. · International journal of cancer

  3. Association between CAG repeat length in the PPP2R2B gene and Alzheimer disease in the Japanese population

    Kimura R, Morihara T, Kudo T et al. · Neuroscience letters

  4. Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)

    Wang YC, Lee CM, Lee LC et al. · The Journal of biological chemistry

2010 4

  1. Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer

    Muggerud AA, Rønneberg JA, Wärnberg F et al. · Breast cancer research : BCR

  2. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12

    Sato K, Yabe I, Fukuda Y et al. · Archives of neurology

  3. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

    Brussino A, Graziano C, Giobbe D et al. · Movement disorders : official journal of the Movement Disorder Society

  4. The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression

    Lin CH, Chen CM, Hou YT et al. · Human genetics

2009 3

  1. Oxidative stress promotes autophagic cell death in human neuroblastoma cells with ectopic transfer of mitochondrial PPP2R2B (Bbeta2)

    Cheng WT, Guo ZX, Lin CA et al. · BMC cell biology

  2. PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications

    Chen CM, Hou YT, Liu JY et al. · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

  3. Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study

    Bahl S, Ahmed I, Mukerji M · Journal of genetics

2008 2

  1. Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients

    Cho JW, Kim SY, Park SS et al. · The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

  2. The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

    Dagda RK, Merrill RA, Cribbs JT et al. · The Journal of biological chemistry

2005 2

  1. Evidence of a common founder for SCA12 in the Indian population

    Bahl S, Virdi K, Mittal U et al. · Annals of human genetics

  2. Mapping of the PPP2R2B gene to canine chromosome 2q4.3 by fluorescence in situ hybridization and confirmation by radiation hybrid mapping

    Kuiper H, Drögemüller C, Guyon R et al. · Animal genetics

2004 3

  1. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease

    Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF et al. · Journal of neurology, neurosurgery, and psychiatry

  2. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

    Cagnoli C, Michielotto C, Matsuura T et al. · The Journal of molecular diagnostics : JMD

  3. Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group

    Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M et al. · Journal of applied genetics

2003 2

  1. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia

    Laurent C, Niehaus D, Bauché S et al. · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

  2. Why is SCA12 different from other SCAs?

    Holmes SE, O'Hearn E, Margolis RL · Cytogenetic and genome research · Review

2002 2

  1. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions

    Brusco A, Cagnoli C, Franco A et al. · Journal of neurology

  2. Familial essential tremor is not associated with SCA-12 mutation in southern Italy

    Nicoletti G, Annesi G, Carrideo S et al. · Movement disorders : official journal of the Movement Disorder Society

2001 6

  1. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

    Srivastava AK, Choudhry S, Gopinath MS et al. · Annals of neurology

  2. SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion

    O'Hearn E, Holmes SE, Calvert PC et al. · Neurology

  3. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

    Fujigasaki H, Verma IC, Camuzat A et al. · Annals of neurology

  4. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia

    Holmes SE, Hearn EO, Ross CA et al. · Brain research bulletin · Review

  5. Spinocerebellar ataxia type 12 is rare in the United Kingdom

    Worth PF, Wood NW · Neurology

  6. The SCA12 mutation as a rare cause of spinocerebellar ataxia

    Cholfin JA, Sobrido MJ, Perlman S et al. · Archives of neurology

1999 1

  1. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12

    Holmes SE, O'Hearn EE, McInnis MG et al. · Nature genetics

Wider reading

Related papers

The same search returns 187 further papers whose titles name neither SCA-12 nor PPP2R2B. Some study the gene in other diseases; some mention SCA-12 once, in a list of ataxias. They are kept for completeness, but SCA-12 is not their subject.

Show all 187 related papers

2026 11

  1. A multiomics Mendelian randomization study on PANoptosis-related genes and gastric cancer risk

    Wang Y, Xia Y, Weng L et al. · The Journal of international medical research

  2. Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study

    Hu Z, Yan QQ, Wan JJ et al. · Movement disorders : official journal of the Movement Disorder Society

  3. Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias

    Scriba CK, Folland C, Black M et al. · Brain communications

  4. Development history, genomic diversity, population structure, and selection signatures in worldwide Boer goat populations

    Retief A, Brito LF, Visser C · Animal : an international journal of animal bioscience

  5. Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice

    Romano LE, Tsukagoshi S, Davey-Osuch EE et al. · Life science alliance

  6. Non-Huntington's disease chorea: an expanding universe with acquired causes

    Cardoso F, Maia D, Maciel R et al. · Brain : a journal of neurology · Review

  7. Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study

    Lin J, Wang YL, Qu Y et al. · Neurology. Genetics

  8. Short tandem repeat expansions in patients with neurodegenerative dementia

    Zhu Y, Xiao X, Liu Y et al. · EBioMedicine

  9. Spinocerebellar ataxia with mixed tremor and hippocampal atrophy: case report and literature review

    Wang X, Zhou B, Guo Z et al. · Frontiers in neuroscience

  10. Transcriptome analysis of cacao reveals differentially expressed genes associated with resistance to Phytophthora palmivora

    Izzah NK, Jayakodi M, Lee SC et al. · 3 Biotech

  11. WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review

    Sapuppo A, Rizzo R, Fusto G et al. · Current issues in molecular biology

2025 9

  1. A Review of Spinocerebellar Ataxias in Taiwan

    Lee CJ, Liu CS · Acta neurologica Taiwanica · Review

  2. Assessment of chromatin remodeling of acute myeloid leukemia cells treated with gilteritinib: a case report

    Mori J, Sawada T, Nojiri K et al. · Journal of medical case reports

  3. CRX is an intrinsic suppressor of epithelial‒mesenchymal transition in retinal pigment epithelial cells: a promising therapeutic avenue for subretinal fibrosis

    Li D, Ou Q, Gao F et al. · Cell death & disease

  4. Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia

    Yau WY, Sullivan R, O'Connor E et al. · Brain communications

  5. Mechanism of β-Catenin in Pulmonary Fibrosis Following SARS-CoV-2 Infection

    Jiang M, Hou J, Chai Q et al. · Cells

  6. Mechanistic insights into the therapeutic effects on liver fibrosis in Wilson's disease: a transcriptomic and network pharmacology-based approach

    Ma Y, Pu Y, Chen H et al. · Frontiers in medicine

  7. Predicting bevacizumab efficacy: the emerging role of ACTL6B in colorectal cancer

    Weng X, Zhu J, Zhou X · Journal of gastrointestinal oncology

  8. Transcriptome associated with single-cell analysis reveal the role of S-palmitoylation in coronary artery disease

    Xing Y, Lin X · Scientific reports

  9. Whole transcriptome analysis and construction of gene regulatory networks of granulosa cells from patients with polycystic ovary syndrome (PCOS)

    Yuan Y, Daiterigele, Zhang Q et al. · European journal of medical research

2024 14

  1. CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK

    Ma Y, Liu X, Zhou M et al. · Cell death & disease

  2. Dephosphorylation-related signature predicts the prognosis of papillary renal cell carcinoma

    Feng J, Jiang L, Tang H et al. · Translational cancer research

  3. Discriminating three lab scale dark chocolate bars from fine Cameroon cocoa hybrids using sensorial evaluation and organic acid content

    Akoa SP, Boulanger R, Manga Ndjaga J et al. · Journal of food science and technology

  4. Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China

    Zheng Z, Zhu Z, Pu J et al. · Molecular biology reports

  5. Identification of biomarkers in Parkinson's disease by comparative transcriptome analysis and WGCNA highlights the role of oligodendrocyte precursor cells

    Zhang FL, Li AY, Niu YL et al. · Frontiers in aging neuroscience

  6. Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the MLH1:c.1528C>T South African Founder Variant

    Ndou L, Chambuso R, Algar U et al. · Biomedicines

  7. Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort

    Tyagi N, Uppili B, Sharma P et al. · Neurogenetics

  8. Metabolome profiling of cacao (Theobroma cacao L.) callus under drought stress conditions induced by polyethylene glycol (PEG) as osmoticant

    Boutchouang RP, Fliniaux O, Eyamo JVE et al. · Phytochemical analysis : PCA

  9. Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

    Kumar M, Sahni S, A V et al. · iScience

  10. Multiple independent de novo mutations are associated with the development of schistosoma reflexum, a lethal syndrome in cattle

    Jacinto JGP, Häfliger IM, Letko A et al. · Veterinary journal (London, England : 1997)

  11. Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature

    Alshimemeri S, Alsaghan L, Alsamh DA et al. · The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

  12. Systems genetics analysis reveals the common genetic basis for pain sensitivity and cognitive function

    Xu F, Chen A, Pan S et al. · CNS neuroscience & therapeutics

  13. Tremor in Spinocerebellar Ataxia: A Scoping Review

    Mukherjee A, Pandey S · Tremor and other hyperkinetic movements (New York, N.Y.)

  14. Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor

    Zhou X, He R, Zeng S et al. · Brain communications

2023 7

  1. [Mechanism of Jiaotai Pills in treatment of depression based on quantitative proteomics]

    Dai GL, Sun BT, Chen ZY et al. · Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica

  2. Ancestral origins are associated with SARS-CoV-2 susceptibility and protection in a Florida patient population

    Shen Y, Khatri B, Rananaware S et al. · PloS one

  3. Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

    Ghorbani F, de Boer EN, Benjamins-Stok M et al. · Neurology. Genetics

  4. Evaluation of the Antimicrobial Capacity of Bacteria Isolated from Stingless Bee (Scaptotrigona aff. postica) Honey Cultivated in Açai (Euterpe oleracea) Monoculture

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  5. Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans

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  6. Identification and validation of a novel prognostic model based on platinum Resistance-related genes in bladder cancer

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  7. Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis

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2022 7

  1. Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

    Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF et al. · Neurology. Genetics

  2. Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

    Sharma P, Sonakar AK, Tyagi N et al. · Advanced genetics (Hoboken, N.J.)

  3. GWAS of Reproductive Traits in Large White Pigs on Chip and Imputed Whole-Genome Sequencing Data

    Wang X, Wang L, Shi L et al. · International journal of molecular sciences

  4. Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

    Perfilyeva A, Bespalova K, Perfilyeva Y et al. · Disease markers

  5. miR21 modulates the Hippo signaling pathway via interference with PP2A Bβ to inhibit trophoblast invasion and cause preeclampsia

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  6. Optical Genome Mapping for Comprehensive Assessment of Chromosomal Aberrations and Discovery of New Fusion Genes in Pediatric B-Acute Lymphoblastic Leukemia

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  7. Shen Qi Wan Ameliorates Learning and Memory Impairment Induced by STZ in AD Rats through PI3K/AKT Pathway

    Huang J, Xu Z, Chen H et al. · Brain sciences

2021 11

  1. A broadly active fucosyltransferase LmjFUT1 whose mitochondrial localization and activity are essential in parasitic Leishmania

    Guo H, Damerow S, Penha L et al. · Proceedings of the National Academy of Sciences of the United States of America

  2. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy

    Wernick AI, Walton RL, Soto-Beasley AI et al. · Clinical autonomic research : official journal of the Clinical Autonomic Research Society

  3. Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias

    Wan N, Chen Z, Wan L et al. · Parkinsonism & related disorders

  4. Identification of candidate biomarkers and therapeutic agents for heart failure by bioinformatics analysis

    Kolur V, Vastrad B, Vastrad C et al. · BMC cardiovascular disorders

  5. Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy

    Zhang X, Shao X, Zhang R et al. · Clinical epigenetics

  6. Modeling genetic epileptic encephalopathies using brain organoids

    Steinberg DJ, Repudi S, Saleem A et al. · EMBO molecular medicine

  7. Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview

    Banne E, Abudiab B, Abu-Swai S et al. · Cells · Review

  8. Protein phosphatase 2A holoenzymes regulate leucine-rich repeat kinase 2 phosphorylation and accumulation

    Drouyer M, Bolliger MF, Lobbestael E et al. · Neurobiology of disease

  9. Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management

    van Prooije T, Ibrahim NM, Azmin S et al. · Parkinsonism & related disorders

  10. Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs

    Li PP, Margolis RL · Scientific reports

  11. Whole genome analyses reveal significant convergence in obsessive-compulsive disorder between humans and dogs

    Cao X, Liu WP, Cheng LG et al. · Science bulletin

2020 15

  1. [Detection and analysis of dynamic variant in a pedigree affected with spinocerebellar ataxia type 3]

    Chen C, Zhao X, Kong X · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  2. Comparative Morphology of the Mouthparts in Three Predatory Stink Bugs (Heteroptera: Asopinae) Reveals Feeding Specialization of Stylets and Sensilla

    Wang Y, Brożek J, Dai W · Insects

  3. Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration

    Louis ED, Faust PL · Cerebellum (London, England) · Review

  4. Expression of long non-coding RNAs in complete transection spinal cord injury: a transcriptomic analysis

    Ding L, Fu WJ, Di HY et al. · Neural regeneration research

  5. EZH2-mediated PP2A inactivation confers resistance to HER2-targeted breast cancer therapy

    Bao Y, Oguz G, Lee WC et al. · Nature communications

  6. Genetic Risk Factors for Essential Tremor: A Review

    Siokas V, Aloizou AM, Tsouris Z et al. · Tremor and other hyperkinetic movements (New York, N.Y.) · Review

  7. Insight into unique somitogenesis of yak (Bos grunniens) with one additional thoracic vertebra

    Wang Y, Cai H, Luo X et al. · BMC genomics

  8. Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients

    Kaur J, Parveen S, Shamim U et al. · Journal of Huntington's disease

  9. Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases

    Shi D, Xu J, Niu W et al. · Journal of assisted reproduction and genetics

  10. Morphological Disparity of the Mouthparts in Polyphagous Species of Largidae (Heteroptera: Pentatomomorpha: Pyrrhocoroidea) Reveals Feeding Specialization

    Wang Y, Brożek J, Dai W · Insects

  11. Proteins involved in the biosynthesis of lipophosphoglycan in Leishmania: a comparative genomic and evolutionary analysis

    Azevedo LG, de Queiroz ATL, Barral A et al. · Parasites & vectors

  12. Spinocerebellar Ataxias in India: Three‑year Molecular Data from a Central Reference Laboratory

    Bhanushali AA, Venkatesan R, Das BR · Neurology India

  13. Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma

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  14. Ubiquitin ligases and medulloblastoma: genetic markers of the four consensus subgroups identified through transcriptome datasets

    Vriend J, Rastegar M · Biochimica et biophysica acta. Molecular basis of disease · Review

  15. WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders

    Aldaz CM, Hussain T · International journal of molecular sciences · Review

2019 3

  1. Differential Expression of Genes for Ubiquitin Ligases in Medulloblastoma Subtypes

    Vriend J, Tate RB · Cerebellum (London, England)

  2. Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy

    Yang C, Zhang Y, Song Z et al. · International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

  3. Weighted single-step GWAS identified candidate genes associated with semen traits in a Duroc boar population

    Gao N, Chen Y, Liu X et al. · BMC genomics

2018 6

  1. Antipsychotic Drug Responsiveness and Dopamine Receptor Signaling; Old Players and New Prospects

    Rampino A, Marakhovskaia A, Soares-Silva T et al. · Frontiers in psychiatry · Review

  2. Evaluation of Various Movement Disorders in Patients of Genetically Proven Spinocerebellar Ataxia: A Study from a Tertiary Care Center in Northern India

    Radhakrishnan DM, Goyal V, Srivastava AK et al. · Annals of Indian Academy of Neurology

  3. Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A)

    Kumar D, Hussain A, Srivastava AK et al. · Stem cell research

  4. Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

    Venkatesh SD, Kandasamy M, Moily NS et al. · Journal of genetics

  5. Regulation of β-Catenin Phosphorylation by PR55β in Adenoid Cystic Carcinoma

    Ishibashi K, Ishii K, Sugiyama G et al. · Cancer genomics & proteomics

  6. WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation

    Serin HM, Simsek E, Isik E et al. · Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2017 8

  1. Analysis of Bos taurus and Sus scrofa X and Y chromosome transcriptome highlights reproductive driver genes

    Khan FA, Liu H, Zhou H et al. · Oncotarget

  2. Association of functional genetic variation in PP2A with prefrontal working memory processing

    Rampino A, Di Carlo P, Fazio L et al. · Behavioural brain research

  3. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil

    Braga-Neto P, Pedroso JL, Furtado GV et al. · Cerebellum (London, England)

  4. Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease

    Kim YJ, Jeon J, Shin J et al. · Movement disorders : official journal of the Movement Disorder Society

  5. Effects and mechanism of GA-13315 on the proliferation and apoptosis of KB cells in oral cancer

    Shen S, Tang J · Oncology letters

  6. Musculin inhibits human T-helper 17 cell response to interleukin 2 by controlling STAT5B activity

    Santarlasci V, Mazzoni A, Capone M et al. · European journal of immunology

  7. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

    Gan SR, Wang J, Figueroa KP et al. · Tremor and other hyperkinetic movements (New York, N.Y.)

  8. Trinucleotide repeat disorders

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2016 7

  1. A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta

    Xu XJ, Lv F, Liu Y et al. · Clinica chimica acta; international journal of clinical chemistry

  2. Comparative Transcriptomic Analysis of Primary Duck Hepatocytes Provides Insight into Differential Susceptibility to DHBV Infection

    Yan L, Qu S, Liu G et al. · PloS one

  3. Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy

    Takahashi Y, Kanai M, Taminato T et al. · Neurology. Genetics

  4. Exome chip analyses in adult attention deficit hyperactivity disorder

    Zayats T, Jacobsen KK, Kleppe R et al. · Translational psychiatry

  5. Identification of differentially expressed genes in the development of osteosarcoma using RNA-seq

    Yang Y, Zhang Y, Qu X et al. · Oncotarget

  6. Transcriptome-Based Analysis of Molecular Pathways for Clusterin Functions in Kidney Cells

    Dairi G, Guan Q, Roshan-Moniri M et al. · Journal of cellular physiology

  7. Unusual tremor syndromes: know in order to recognise

    Ure RJ, Dhanju S, Lang AE et al. · Journal of neurology, neurosurgery, and psychiatry · Review

2015 9

  1. [Recent advances in clinical and genetic research of spinocerebellar ataxia type 36]

    Zeng S, Tang B, Wang J · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Review

  2. CUL4B activates Wnt/β-catenin signalling in hepatocellular carcinoma by repressing Wnt antagonists

    Yuan J, Han B, Hu H et al. · The Journal of pathology

  3. Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor

    Clark LN, Ye X, Liu X et al. · Parkinsonism & related disorders

  4. Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass

    Bahl A, Pöllänen E, Ismail K et al. · Twin research and human genetics : the official journal of the International Society for Twin Studies

  5. Inhibition of DNA methyltransferase as a novel therapeutic strategy to overcome acquired resistance to dual PI3K/mTOR inhibitors

    Qian XJ, Li YT, Yu Y et al. · Oncotarget

  6. The negative regulators of Wnt pathway-DACH1, DKK1, and WIF1 are methylated in oral and oropharyngeal cancer and WIF1 methylation predicts shorter survival

    Paluszczak J, Sarbak J, Kostrzewska-Poczekaj M et al. · Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine

  7. Transcriptome profiling of bovine inner cell mass and trophectoderm derived from in vivo generated blastocysts

    Hosseini SM, Dufort I, Caballero J et al. · BMC developmental biology

  8. WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period

    Valduga M, Philippe C, Lambert L et al. · Journal of human genetics

  9. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

    Mignot C, Lambert L, Pasquier L et al. · Journal of medical genetics

2014 9

  1. Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India

    Pulai D, Guin DS, Bhattacharyya KB et al. · Annals of Indian Academy of Neurology

  2. De novo mutations in moderate or severe intellectual disability

    Hamdan FF, Srour M, Capo-Chichi JM et al. · PLoS genetics

  3. Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis

    Figley MD, Thomas A, Gitler AD · Neurobiology of aging

  4. Frequent hypermethylation of WNT pathway genes in laryngeal squamous cell carcinomas

    Paluszczak J, Hemmerling D, Kostrzewska-Poczekaj M et al. · Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology

  5. Germline genetics of the p53 pathway affect longevity in a gender specific manner

    Groß S, Immel UD, Klintschar M et al. · Current aging science

  6. Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia

    Cintra VP, Lourenço CM, Marques SE et al. · Journal of the neurological sciences

  7. Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks

    Xu G, Barrios-Rodiles M, Jerkic M et al. · Molecular & cellular proteomics : MCP

  8. Spinocerebellar Ataxia 2 and 12 Mutations in an Indian Family with Cerebellar Ataxia and Slow Saccades

    Faruq M, Shakya S, Garg A et al. · Movement disorders clinical practice

  9. Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes

    de Castilhos RM, Furtado GV, Gheno TC et al. · Cerebellum (London, England)

2013 6

  1. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series

    Strupp M, Teufel J, Habs M et al. · Journal of neurology

  2. Functional genetic polymorphisms in PP2A subunit genes confer increased risks of lung cancer in southern and eastern Chinese

    Yang R, Yang L, Qiu F et al. · PloS one

  3. Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

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  4. N-terminal phosphorylation of protein phosphatase 2A/Bβ2 regulates translocation to mitochondria, dynamin-related protein 1 dephosphorylation, and neuronal survival

    Merrill RA, Slupe AM, Strack S · The FEBS journal

  5. Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clinico-pathological factors in breast tumors

    Klajic J, Fleischer T, Dejeux E et al. · BMC cancer

  6. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients

    Musova Z, Sedlacek Z, Mazanec R et al. · Cerebellum (London, England)

2012 8

  1. Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

    Koutsis G, Pemble S, Sweeney MG et al. · Journal of the neurological sciences

  2. Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population

    Dong J, Hu Z, Wu C et al. · Nature genetics

  3. Computational prediction of the polyQ and CAG repeat spinocerebellar ataxia network based on sequence identity to untranslated regions

    Spence JL, Wallihan S · Gene

  4. Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5

    Nolan DK, Sutton B, Haynes C et al. · BMC genetics

  5. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion

    Koutsis G, Karadima G, Pandraud A et al. · Journal of neurology

  6. Integration of global spectral karyotyping, CGH arrays, and expression arrays reveals important genes in the pathogenesis of glioblastoma multiforme

    Leone PE, González MB, Elosua C et al. · Annals of surgical oncology

  7. Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations

    Votsi C, Zamba-Papanicolaou E, Georghiou A et al. · Journal of the neurological sciences

  8. Melatonin attenuates decrease of protein phosphatase 2A subunit B in ischemic brain injury

    Koh PO · Journal of pineal research

2011 7

  1. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics

    Whaley NR, Fujioka S, Wszolek ZK · Orphanet journal of rare diseases · Review

  2. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay

    Tanaka E, Maruyama H, Morino H et al. · Hiroshima journal of medical sciences

  3. Establishment and characterization of Prnp knockdown neuroblastoma cells using dual microRNA-mediated RNA interference

    Kang SG, Roh YM, Lau A et al. · Prion

  4. EZH2-mediated concordant repression of Wnt antagonists promotes β-catenin-dependent hepatocarcinogenesis

    Cheng AS, Lau SS, Chen Y et al. · Cancer research

  5. Induction of PP2A Bβ, a regulator of IL-2 deprivation-induced T-cell apoptosis, is deficient in systemic lupus erythematosus

    Crispín JC, Apostolidis SA, Finnell MI et al. · Proceedings of the National Academy of Sciences of the United States of America

  6. Quantification of circulating plasma DNA in Friedreich's ataxia and spinocerebellar ataxia types 2 and 12

    Swarup V, Srivastava AK, Padma MV et al. · DNA and cell biology

  7. Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases

    Wang J, Shen L, Lei L et al. · Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

2010 5

  1. [Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]

    Wang JL, Wu YQ, Lei LF et al. · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  2. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal

    Vale J, Bugalho P, Silveira I et al. · European journal of neurology

  3. B55β-associated PP2A complex controls PDK1-directed myc signaling and modulates rapamycin sensitivity in colorectal cancer

    Tan J, Lee PL, Li Z et al. · Cancer cell

  4. DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response

    Dejeux E, Rønneberg JA, Solvang H et al. · Molecular cancer

  5. The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

    Sułek-Piatkowska A, Zdzienicka E, Raczyńska-Rakowicz M et al. · Neurologia i neurochirurgia polska

2009 4

  1. [Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region]

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  2. [Molecular genetic approach to spinocerebellar ataxias]

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  3. [Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]

    Wang J, Xu Q, Lei L et al. · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  4. PTPRR, cerebellum, and motor coordination

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2008 4

  1. [Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region]

    Wang JL, Tang BS · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Review

  2. [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans]

    Wang J, Zhang S, Xu Q et al. · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  3. Plasmids of the pRM/pRF family occur in diverse Rickettsia species

    Baldridge GD, Burkhardt NY, Felsheim RF et al. · Applied and environmental microbiology

  4. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

    Rajkiewicz M, Sułek-Piatkowska A, Krysa W et al. · Neurologia i neurochirurgia polska

2007 3

  1. Case control analysis of repeat expansion size in ataxia

    Majounie E, Wardle M, Muzaimi M et al. · Neuroscience letters

  2. Identification of the porcine homologous of human disease causing trinucleotide repeat sequences

    Madsen LB, Thomsen B, Sølvsten CA et al. · Neurogenetics

  3. Multiplex families with multiple system atrophy

    Hara K, Momose Y, Tokiguchi S et al. · Archives of neurology

2006 4

  1. Chromosome 5 imbalance mapping in breast tumors from BRCA1 and BRCA2 mutation carriers and sporadic breast tumors

    Johannsdottir HK, Jonsson G, Johannesdottir G et al. · International journal of cancer

  2. Demonstration by heterologous expression that the Leishmania SCA1 gene encodes an arabinopyranosyltransferase

    Goswami M, Dobson DE, Beverley SM et al. · Glycobiology

  3. Dominant non-coding repeat expansions in human disease

    Dick KA, Margolis JM, Day JW et al. · Genome dynamics · Review

  4. RNA-mediated neuromuscular disorders

    Ranum LP, Cooper TA · Annual review of neuroscience · Review

2005 8

  1. [Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6]

    Jiang H, Tang B, Xu B et al. · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  2. [Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias]

    Xie QY, Liang XL, Li XH · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

  3. Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

    Chen CM, Lane HY, Wu YR et al. · Schizophrenia research

  4. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6

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  5. Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

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  6. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement

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  7. Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families

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  8. Unfolding-resistant translocase targeting: a novel mechanism for outer mitochondrial membrane localization exemplified by the Bbeta2 regulatory subunit of protein phosphatase 2A

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2004 6

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  2. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

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  3. Comparative genetics of functional trinucleotide tandem repeats in humans and apes

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  4. Gene expression profile following stable expression of the cellular prion protein

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  5. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

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2003 6

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  3. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan

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  4. Identification of genes encoding arabinosyltransferases (SCA) mediating developmental modifications of lipophosphoglycan required for sand fly transmission of leishmania major

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  5. Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?

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2002 4

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2001 2

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  2. Clinical features and genetic analysis of a new form of spinocerebellar ataxia

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2000 3

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  2. High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan

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Who works on this

Researchers active in SCA-12

SCA-12 is studied by a small number of groups worldwide, with a significant share of the clinical literature coming from centres in India.

Dr. Achal Kumar Srivastava

Neurologist

All India Institute of Medical Sciences (AIIMS), New Delhi

Clinical neurology and movement disorders, including the presentation and long-term course of hereditary ataxias.

Dr. Mohammed Faruq

Genetics researcher

CSIR–Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi

Genomics of inherited neurological conditions, including repeat-expansion ataxias such as SCA-12.

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Last reviewed

Sourced from PubMed, searched on 7 September 2026, and the publisher’s own page for each hand-added entry. We do not paraphrase findings — please read the source.

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