CureSCA12

Research

Related papers

282 papers the same search returned whose titles name neither SCA12 nor the PPP2R2B gene. Some study the gene in other diseases; some mention SCA12 once, in a list of ataxias. SCA12 is not their subject — they are here so nothing is silently dropped.

Wider reading

Related papers, year by year

From PubMed, Europe PMC and OpenAlex, compiled on 8 September 2026. For the papers that are about SCA12, see the main library.

2026

16 papers
  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

    Free full text of A multiomics Mendelian randomization study on PANoptosis-related genes and gastric cancer risk

  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

  3. Continuing decline of multisystemic subtypes and increasing unidentified cases in autosomal dominant spinocerebellar ataxia under health insurance coverage in Hokkaido

    Keiichi Mizushima, Shinichi Shirai, Yuka Shibata et al.

    Journal of the Neurological Sciences

  4. 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

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

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

    Retief A, Brito LF, Visser C

    Animal

  6. Fibromyalgia as a cAMP-Driven HSV-1 Reactivation Disorder Amplified by EBNA2-Mediated X Chromosome Derepression

    Javier Martínez Mellado

    Zenodo

  7. Fibromyalgia Driven by Two Viruses and the Risk Genes: Epstein-Barr Virus Explains the Female Bias and Herpes Simplex Virus Type 1 Causes the Pain

    Javier Martínez Mellado

    Zenodo

  8. Identification of breed-specific SNPs for genetic assessment of differentiation of commercial pig breeds

    T. S. Romanets, S. Y. Bakoev, E. A. Romanets et al.

    Agricultural science Euro-North-East

  9. Investigation and Evaluation of Molecular Markers for Drug Repurposing in the Development of Precision Therapy for Pediatric Medulloblastoma

    Victor Wendel da Silva Goncalves, Alcides Euzebio Tavares Xavier, Rosane Gomes de Paula Queiróz et al.

    Brazilian Journal of Oncology

  10. 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

    Free full text of Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice

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

    Cardoso F, Maia D, Maciel R et al.

    Brain

    Review

  12. 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

    Free full text of Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study

  13. Short tandem repeat expansions in patients with neurodegenerative dementia

    Zhu Y, Xiao X, Liu Y et al.

    EBioMedicine

    Free full text of Short tandem repeat expansions in patients with neurodegenerative dementia

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

    Wang X, Zhou B, Guo Z et al.

    Frontiers in neuroscience

    Case reportFree full text of Spinocerebellar ataxia with mixed tremor and hippocampal atrophy: case report and literature review

  15. Tandem repeat expansions in DAPK1 , ANK3 , and RPL14 are associated with diverse neurodegenerative diseases

    Altman GN, Jadhav B, Garg P et al.

    medRxiv

  16. 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

    Case reportFree full text of WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review

2025

17 papers
  1. A digital measure of eye movements during reading sensitively captures oculomotor and speech dysfunction, early changes, and disease progression in ataxias

    Brandon Oubre, Faye X. Yang, Anna C. Luddy et al.

    Annals of Neurology

  2. A Review of Spinocerebellar Ataxias in Taiwan

    Lee CJ, Liu CS, Society for Neurological Rare Disorders-Taiwan

    Acta neurologica Taiwanica

    Review

  3. 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

    Case reportFree full text of Assessment of chromatin remodeling of acute myeloid leukemia cells treated with gilteritinib: a case report

  4. Clinical and genetic correlation of spinocerebellar ataxia patients: Insights from a tertiary care investigation

    Bashir Sanie, Atif Kawoosa, Imran Ahmed Khan et al.

    Annals of Movement Disorders

  5. 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

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

  6. Dentate nucleus deep brain stimulation for spinocerebellar ataxia: results of a six-month follow-up

    Zhao L, Qiu C, Dong W et al.

    medRxiv

  7. Desvendando os Subgrupos Moleculares do Meduloblastoma: Uma Abordagem baseada em IA Explicável com XGBoost e SHAP

    Raylam Silva, Matheus Dalmolin, Marcelo Fernandes

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

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

    Brain communications

    Free full text of Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia

  9. Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

    Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname et al.

    American Journal of Medical Genetics Part A

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

    Jiang M, Hou J, Chai Q et al.

    Cells

    Free full text of Mechanism of β-Catenin in Pulmonary Fibrosis Following SARS-CoV-2 Infection

  11. 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

    Free full text of Mechanistic insights into the therapeutic effects on liver fibrosis in Wilson's disease: a transcriptomic and network pharmacology-based approach

  12. Nosological structure and frequency of autosomal dominant spinocerebellar ataxias associated with nucleotide repeat expansions in Russia

    Elizaveta V. Vuta, V. D. Nazarov, D. V. Sidorenko et al.

    Neuromuscular Diseases

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

    Weng X, Zhu J, Zhou X

    Journal of gastrointestinal oncology

    Free full text of Predicting bevacizumab efficacy: the emerging role of ACTL6B in colorectal cancer

  14. Short tandem repeat expansions in 1532 patients with neurodegenerative dementia in China

    Yuan Zhu, Xuewen Xiao, Tianyan Xu et al.

    Alzheimer s & Dementia

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

    Xing Y, Lin X

    Scientific reports

    Free full text of Transcriptome associated with single-cell analysis reveal the role of S-palmitoylation in coronary artery disease

  16. Unraveling the role of CRX as a potent intrinsic suppressor of epithelial-mesenchymal transition in retinal pigment epithelial cells

    Tian H, Li D, Ou Q et al.

    Research Square

  17. 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

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

2024

16 papers
  1. Abstracts of the 8th Annual Conference of the Movement Disorders Society of India (MDSICON 2023-24)

    Annals of Movement Disorders

  2. Ataxia without oculomotor apraxia - An unfamiliar tale of imbalance

    Vijayashankar Paramanandam, A Madhuri, N Indumathi et al.

    Annals of Movement Disorders

  3. 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

    Free full text of CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK

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

    Feng J, Jiang L, Tang H et al.

    Translational cancer research

    Free full text of Dephosphorylation-related signature predicts the prognosis of papillary renal cell carcinoma

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

    Zhilin Zheng, Zeyu Zhu, Jiali Pu et al.

    Molecular biology reports

  6. 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

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

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

    Yufen Peng, Qi Tu, Han Yao et al.

    Biomedical Signal Processing and Control

  8. 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

    Free full text of 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

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

    Tyagi N, Uppili B, Sharma P et al.

    Neurogenetics

  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

  11. Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy

    Chen Ling, J. Wang, Yiming Zheng et al.

    Journal of Clinical Neurology

  12. Non-HD-Chorea: An Expanding Universe

    Cardoso F, Maia D, Maciel R et al.

    SciELO Preprints

  13. 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

  14. 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

    Free full text of Systems genetics analysis reveals the common genetic basis for pain sensitivity and cognitive function

  15. Tremor in Spinocerebellar Ataxia: A Scoping Review

    Mukherjee A, Pandey S

    Tremor and other hyperkinetic movements

    Free full text of Tremor in Spinocerebellar Ataxia: A Scoping Review

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

    Zhou X, He R, Zeng S et al.

    Brain communications

    Free full text of Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor

2023

15 papers
  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. A Study of Phenotypic Spectrum and Severity Assessment of 29 Patients of Genetically Proven Spinocerebellar Ataxia-12

    Vaibhav Mathur, Aakash Shetty, Pettarusp M. Wadia

    Neuromodulation Technology at the Neural Interface

  3. Abstract 325: The cellular prion protein is involved in the modulation of Wnt signaling in glioblastoma

    Bárbara Paranhos Coelho, Mariana Brandão Prado, Frederico Moraes Ferreira et al.

    Cancer Research

  4. 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

    Free full text of Ancestral origins are associated with SARS-CoV-2 susceptibility and protection in a Florida patient population

  5. Cala Trio wrist-worn medical device for tremor improvement in patient with Spinocerebellar Ataxia-12 (P8-11.014)

    Syed Mehdi Husaini, Ahmad Almelegy, Gian Pal

    Neurology

  6. 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

    Free full text of Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

  7. Data from EZH2-Mediated Concordant Repression of Wnt Antagonists Promotes β-Catenin–Dependent Hepatocarcinogenesis

    Alfred S.L. Cheng, Suki S. Lau, Yangchao Chen et al.

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

    Silva ICD, Conceição EOA, Pereira DS et al.

    Antibiotics

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

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

    Hamanaka K, Yamauchi D, Koshimizu E et al.

    Genome research

    Free full text of Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans

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

    Hao Y, Wang C, Xu D

    International braz j urol

    Free full text of Identification and validation of a novel prognostic model based on platinum Resistance-related genes in bladder cancer

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

    Peng Y, Tu Q, Han Y et al.

    Open life sciences

    Free full text of Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis

  12. Neuronal metabolic biomarkers in cerebellum of Spinocerebellar ataxia type 2 and 12 patients

    Pankaj Pankaj, S Senthil Kumaran, Achal Kumar Srivastava et al.

    Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition

  13. Podocyte-Specific Regulation of PP2A Worsens Diabetic Kidney Disease (DKD) Progression

    Zhengying Fang, Kyung Lee, Ruijie Liu et al.

    Journal of the American Society of Nephrology

  14. Rapidly Progressive Atypical Parkinsonism as a Presenting Feature of ATX‐CACNA1G ( SCA42 )

    Viviana Alexandra Martínez‐Villota, Sergio A. Castillo‐Torres, Malco Rossi et al.

    Movement Disorders Clinical Practice

  15. Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

    Fabian Maass, Ala Jamous, Saskia Biskup et al.

    Movement Disorders Clinical Practice

2022

10 papers
  1. Abstract 103: Knockout of cellular prion protein in glioblastoma affects the expression of Wnt signaling genes

    Bárbara Paranhos Coelho, Mariana Brandão Prado, Rebeca Piatniczka Iglesia et al.

    Cancer Research

  2. Compound heterozygous deletions of the WWOX gene caused a WOREE syndrome associated with severe epileptic encephalopathy

    Dong X, Wen X, Wang D et al.

    Research Square

  3. 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

    Free full text of Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

  4. 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

    Free full text of Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

  5. 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

    Meta-AnalysisFree full text of GWAS of Reproductive Traits in Large White Pigs on Chip and Imputed Whole-Genome Sequencing Data

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

    Perfilyeva A, Bespalova K, Perfilyeva Y et al.

    Disease markers

    Free full text of Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

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

    Hu M, Zheng Y, Liao J et al.

    Molecular therapy. Nucleic acids

    Free full text of miR21 modulates the Hippo signaling pathway via interference with PP2A Bβ to inhibit trophoblast invasion and cause preeclampsia

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

    Gao H, Xu H, Wang C et al.

    Cancers

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

  9. 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

    Free full text of Shen Qi Wan Ameliorates Learning and Memory Impairment Induced by STZ in AD Rats through PI3K/AKT Pathway

  10. The impact of alcoholic drinks and dietary factors on epigenetic markers associated with triglyceride levels

    Lai C, Parnell L, Lee Y et al.

    Research Square

2021

16 papers
  1. "The clue is in the origin Watson!" – the tale of a DBS surgery for misdiagnosed Parkinson's Disease

    Hargunbir Singh, Nishit Sawal, S. Arjun et al.

    Brain stimulation

  2. 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

    Free full text of A broadly active fucosyltransferase LmjFUT1 whose mitochondrial localization and activity are essential in parasitic Leishmania

  3. Cerebellar Ataxia in Adults with SQSTM1 ‐Associated Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Spectrum of Disorders

    Biswamohan Mishra, Roopa Rajan, Anu Gupta et al.

    Movement Disorders Clinical Practice

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

    Wernick AI, Walton RL, Soto-Beasley AI et al.

    Clinical autonomic research

    Free full text of Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy

  5. 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

  6. Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio‐Cervical Involvement

    Marina Campins‐Romeu, Raquel Baviera‐Muñoz, Isabel Sastre‐Bataller et al.

    Movement Disorders Clinical Practice

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

    Kolur V, Vastrad B, Vastrad C et al.

    BMC cardiovascular disorders

    Free full text of Identification of candidate biomarkers and therapeutic agents for heart failure by bioinformatics analysis

  8. 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

    Free full text of Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy

  9. Modeling genetic epileptic encephalopathies using brain organoids

    Steinberg DJ, Repudi S, Saleem A et al.

    EMBO molecular medicine

    Free full text of Modeling genetic epileptic encephalopathies using brain organoids

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

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

    Cells

    ReviewFree full text of Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview

  11. Overview and prospect of the role and mechanism of SIRT1 in nerve injury repair

    Lu‐Lu Xue, Li Chen, Ruo-Lan Du et al.

    Integrate Medicine

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

    Drouyer M, Bolliger MF, Lobbestael E et al.

    Neurobiology of disease

  13. Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome

    Maziar Emamikhah, Sharmin Aghavali, F Rahimi Sherbaf Moghadas et al.

    Movement Disorders Clinical Practice

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

    van Prooije T, Ibrahim NM, Azmin S et al.

    Parkinsonism & related disorders

    Systematic Review

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

    Li PP, Margolis RL

    Scientific reports

    Free full text of Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs

  16. 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

19 papers
  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

    Case report

  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

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

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

    Louis ED, Faust PL

    Cerebellum

    ReviewFree full text of Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration

  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

    Free full text of Expression of long non-coding RNAs in complete transection spinal cord injury: a transcriptomic analysis

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

    Bao Y, Oguz G, Lee WC et al.

    Nature communications

    Free full text of EZH2-mediated PP2A inactivation confers resistance to HER2-targeted breast cancer therapy

  6. FUNCTIONAL ANALYSIS OF MIRNAS IN CERVICAL CANCER CELL LINES

    Rhafaela Lima Causin, Marcela Rosa Nunes, Tatiana Takahasi Komoto et al.

    Brazilian Journal of Oncology

  7. Genetic Risk Factors for Essential Tremor: A Review

    Siokas V, Aloizou AM, Tsouris Z et al.

    Tremor and other hyperkinetic movements

    ReviewFree full text of Genetic Risk Factors for Essential Tremor: A Review

  8. Identification of key genes and associated pathways in neuroendocrine tumors through bioinformatics analysis and predictions of small drug molecules

    Devarbhavi P, Vastrad B, Tengli A et al.

    bioRxiv

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

    Wang Y, Cai H, Luo X et al.

    BMC genomics

    Free full text of Insight into unique somitogenesis of yak (Bos grunniens) with one additional thoracic vertebra

  10. 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

  11. 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

    Free full text of Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases

  12. Molecular prognostic and predictive factors of breast cancer

    Maral Jamshidi

    Työväentutkimus Vuosikirja

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

    Wang Y, Brożek J, Dai W

    Insects

    Free full text of Morphological Disparity of the Mouthparts in Polyphagous Species of Largidae (Heteroptera: Pentatomomorpha: Pyrrhocoroidea) Reveals Feeding Specialization

  14. Predicting Hub Genes of Glioblastomas Based on a Support Vector Machine Combined with CFS Algorithms

    Chonglian Qiu, Sai Li, Shenghui Yang et al.

    Current Bioinformatics

  15. 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

    Comparative StudyFree full text of Proteins involved in the biosynthesis of lipophosphoglycan in Leishmania: a comparative genomic and evolutionary analysis

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

    Bhanushali AA, Venkatesan R, Das BR

    Neurology India

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

    Hu Q, Zhou S, Hu X et al.

    Journal of cellular and molecular medicine

    Free full text of Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma

  18. 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

  19. WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders

    Aldaz CM, Hussain T

    International journal of molecular sciences

    ReviewFree full text of WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders

2019

5 papers
  1. Abstract 3332: Clonal nuclear and mitochondrial genetic alterations in smoker lung cancer patients and their histologically normal appearing follow-up biopsies

    Julie V. Philley, Kayla Johnston, Hirendra N. Banerjee et al.

    Prevention, Early Detection, and Interception

  2. Análisis de los perfiles de expresión de genes relacionados con vías de proliferación celular en Fibroblastos de Calvaria de una muestra de pacientes colombianos con Síndrome de Apert posterior a la degradación Heparán Sulfato

    Ramirez Montaño, Diana Alexandra

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

    Vriend J, Tate RB

    Cerebellum

  4. 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

    Case report

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

    Ning Gao, Yilong Chen, Yilong Chen et al.

    BMC genomics

    Free full text of Weighted single-step GWAS identified candidate genes associated with semen traits in a Duroc boar population

2018

8 papers
  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

    ReviewFree full text of Antipsychotic Drug Responsiveness and Dopamine Receptor Signaling; Old Players and New Prospects

  2. C09 SCAS genes as disease modifiers in huntington’s disease

    Silvio Peluso, Gemma Natale, Elena Salvatore et al.

  3. 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

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

  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

    Free full text of Regulation of β-Catenin Phosphorylation by PR55β in Adenoid Cystic Carcinoma

  6. Reply: PLD3 and spinocerebellar ataxia

    Kai Yu, Dineke S. Verbeek

    Brain

  7. Updated frequency analysis of spinocerebellar ataxia in China

    Zhao Chen, Puzhi Wang, Chunrong Wang et al.

    Brain

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

    Serin HM, Simsek E, Isik E et al.

    Neurological sciences

    Case report

2017

11 papers
  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

    Free full text of Analysis of Bos taurus and Sus scrofa X and Y chromosome transcriptome highlights reproductive driver genes

  2. Analysis of gene expression in intracranial aneurysms

    Jia Wang, Lanbing Yu, Dong Zhang et al.

    Chinese Neurosurgical Journal

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

    Rampino A, Di Carlo P, Fazio L et al.

    Behavioural brain research

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

    Braga-Neto P, Pedroso JL, Furtado GV et al.

    Cerebellum

    Case report

  5. 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

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

    Shen S, Tang J

    Oncology letters

    Free full text of Effects and mechanism of GA-13315 on the proliferation and apoptosis of KB cells in oral cancer

  7. HUNTINGTON’S DISEASE: GENETIC MODIFIERS OF AGE AT ONSET AND PATHOLOGICAL BIOMARKERS

    Silvio Peluso

  8. 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

  9. Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

    Gan SR, Wang J, Figueroa KP et al.

    Tremor and other hyperkinetic movements

    Multicenter StudyFree full text of Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

  10. Trinucleotide repeat disorders

    Den Dunnen WFA

    Handbook of clinical neurology

    Review

  11. US hereditary ataxia mutation frequencies compared to EFNS molecular testing guidelines

    Zhenyuan Wang, Christopher M. Gómez, David A. Hill et al.

    Journal of Systems and Integrative Neuroscience

2016

11 papers
  1. 69 BLASTOCYSTS DEVELOPED FROM EMBRYOS THAT SPENT UP TO 2-CELL STAGE IN VIVO EXHIBITED MASSIVE DNA METHYLATION DYSREGULATION INCLUDING IMPRINTED GENES AND DNA METHYLTRANSFERASES

    Dessie Salilew‐Wondim, Michael Hoelker, U. Besenfelder et al.

    Reproduction Fertility and Development

  2. 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

    Case report

  3. A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

    Y. Wang, Kishin Koh, Yuta Ichinose et al.

    Clinical Genetics

  4. 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

    Comparative StudyFree full text of Comparative Transcriptomic Analysis of Primary Duck Hepatocytes Provides Insight into Differential Susceptibility to DHBV Infection

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

    Takahashi Y, Kanai M, Taminato T et al.

    Neurology. Genetics

    Free full text of Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy

  6. Exome chip analyses in adult attention deficit hyperactivity disorder

    Zayats T, Jacobsen KK, Kleppe R et al.

    Translational psychiatry

    Free full text of Exome chip analyses in adult attention deficit hyperactivity disorder

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

    Yang Y, Zhang Y, Qu X et al.

    Oncotarget

    Free full text of Identification of differentially expressed genes in the development of osteosarcoma using RNA-seq

  8. Markov Random Fields in Cancer Mutation Dependencies

    Oscar Lindberg

    Doria

  9. Pengujian Klon Batang Atas dan Dosis Pupuk NPK Pada Sambung Samping Kakao Rakyat

    Bambang Eka Tjahjana, Yulius Ferry

    Jurnal Tanaman Industri dan Penyegar

  10. 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

  11. Unusual tremor syndromes: know in order to recognise

    Ure RJ, Dhanju S, Lang AE et al.

    Journal of neurology, neurosurgery, and psychiatry

    Review

2015

15 papers
  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. A Positive Correlation between Elevated Altitude and Frequency of Mutant Alleles at the EPAS1 and HBB Loci in Chinese Indigenous Dogs

    Ruoxi Fan, Fei Liu, Hong Wu et al.

    Journal of genetics and genomics/Journal of Genetics and Genomics

  3. Common Dysregulation of Ribosomal Genes Present in Infants with Acute Respiratory Infection of Respiratory Syncytial Virus, Rhinovirus, and Influenza A

    Huilan Zhu, Xinxin Xin

    Pediatric Allergy Immunology and Pulmonology

  4. 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

  5. Frequencies of Mutations in 20 Genes Associated with Hereditary Ataxia: Experience from a US Clinical Laboratory (P2.135)

    Zhenyuan Wang, Marc Meservey, Michele McCarthy et al.

    Neurology

  6. 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

    Free full text of Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor

  7. 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

    Comparative Study

  8. 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

    Free full text of Inhibition of DNA methyltransferase as a novel therapeutic strategy to overcome acquired resistance to dual PI3K/mTOR inhibitors

  9. Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12

    O'Hearn EE, Hwang HS, Holmes SE et al.

    Movement disorders

    Free full text of Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12

  10. 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

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

  11. TNF-α mutation affects the gene expression profiles of patients with multiple trauma

    Chen Gt, Na Han, GF Li et al.

    European Journal of Inflammation

  12. 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

    Free full text of Transcriptome profiling of bovine inner cell mass and trophectoderm derived from in vivo generated blastocysts

  13. Understanding the Pathophysiology of Spinocerebellar Ataxias through genetics, neurophysiology, structural and functional neuroimaging

    Pramod Kumar Pal

    Annals of the National Academy of Medical Sciences (India) (National Academy of Medical Sciences (India))

  14. 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

    Case report

  15. 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

14 papers
  1. B24 Huntington's Disease As A Tauopathy

    Marta Fernández‐Nogales, José Ángel Cabrera, María Santos‐Galindo et al.

    Journal of Neurology Neurosurgery & Psychiatry

  2. Case Control Analysis of Spinocerebellar Ataxia (SCA) Loci Repeat Expansion Size in Essential Tremor (ET) (P4.071)

    Lorraine N. Clark, Xinmin Liu, Xin Ye et al.

    Neurology

  3. 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

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

  4. De novo mutations in moderate or severe intellectual disability

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

    PLoS genetics

    Free full text of De novo mutations in moderate or severe intellectual disability

  5. Descripción clínica y hallazgos genéticos en una nueva forma de ataxia espinocerebelosa dominante

    Serrano Munuera, M. del Carmen

    TDX

  6. Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis

    Figley MD, Thomas A, Gitler AD

    Neurobiology of aging

    Free full text of Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis

  7. 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

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

    Groß S, Immel UD, Klintschar M et al.

    Current aging science

    Comparative Study

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

    Cintra VP, Lourenço CM, Marques SE et al.

    Journal of the neurological sciences

  10. 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

    Free full text of Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks

  11. 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

    Case reportFree full text of Spinocerebellar Ataxia 2 and 12 Mutations in an Indian Family with Cerebellar Ataxia and Slow Saccades

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

    de Castilhos RM, Furtado GV, Gheno TC et al.

    Cerebellum

    Multicenter Study

  13. When Should We Test Patients With Familial Ataxias For SCA31? (P2.035)

    Agessandro Abrahão, José Luiz Pedroso, Kinya Ishikawa et al.

    Neurology

  14. Why public opinion should not enter the debate about assisted dying

    Julian C. Hughes

    BMJ

2013

11 papers
  1. Abstract 2550: A genome-wide association study of breast cancer survival according to molecular subtype in Korean women

    Nan Song, Ji‐Yeob Choi, Hyuna Sung et al.

    Cancer Research

  2. Abstract 4253: Genome-wide blood leukocyte DNA methylation in relation to visceral, subcutaneous, and hepatic adiposity in postmenopausal women

    Min‐Ae Song, Unhee Lim, Thomas Ernst et al.

    Cancer Research

  3. Alliance of epigenetic forces for the activation of oncogenic W nt/β‐catenin signaling

    Alfa Bai, Alfred S.L. Cheng

    Journal of Gastroenterology and Hepatology

  4. Clinical characteristics and genetic analysis of 9 cases with spinocerebellar ataxia from 4 generations in one family

    Zhang Jin-ya

    Journal of Brain and Nervous Diseases

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

    Strupp M, Teufel J, Habs M et al.

    Journal of neurology

    Free full text of Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series

  6. 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

    Free full text of Functional genetic polymorphisms in PP2A subunit genes confer increased risks of lung cancer in southern and eastern Chinese

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

    Jamshidi M, Schmidt MK, Dörk T et al.

    International journal of cancer

    Free full text of Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

  8. 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

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

  9. 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

    Free full text of Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clinico-pathological factors in breast tumors

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

    Musova Z, Sedlacek Z, Mazanec R et al.

    Cerebellum

  11. Unusual movement disorders in spinocerebellar ataxias

    José Luiz Pedroso, Alzira Alves de Siqueira Carvalho, Márcio Luiz Escórcio Bezerra et al.

    Parkinsonism & Related Disorders

2012

10 papers
  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

    Free full text of Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population

  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

    Free full text of Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5

  5. Genetic epidemiology of periodontal diseases in the elderly

    Lindsay M. Reynolds

    eScholarship

  6. 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

  7. 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

  8. 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

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

    Koh PO

    Journal of pineal research

  10. Molecular and clinical study of spinocerebellar ataxia type 17

    Jin Zhang, Ying Hao, Weihong Gu et al.

    Chin J Neurol

2011

9 papers
  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

    ReviewFree full text of Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics

  2. Biomarkers and Alzheimer spectrum

    Masatoshi Takeda

    Psychiatry and Clinical Neurosciences

  3. 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

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

    Kang SG, Roh YM, Lau A et al.

    Prion

    Free full text of Establishment and characterization of Prnp knockdown neuroblastoma cells using dual microRNA-mediated RNA interference

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

    Cheng AS, Lau SS, Chen Y et al.

    Cancer research

  6. Induction of PP2A Bβ, a novel regulator of IL-2 deprivation-induced T cell apoptosis, is deficient in patients with systemic lupus erythematosus. (44.17)

    José C. Crispín, Sokratis A. Apostolidis, Melissa Finnell et al.

    The Journal of Immunology

  7. 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

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

  8. 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

  9. 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

13 papers
  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

    Free full text of DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response

  5. Gene mutations causing autosomal dominant cerebellar ataxia in Japan

    Kinya Ishikawa, Hidehiro Mizusawa

    Neuroscience Research

  6. Intragenic line-1 methylation controls gene expression in head and neck cancer cells

    Chureerat Phokaew, Apiwat Mutirangura

  7. Pharmacogenomics-Based Drug Response Prediction Model for Acute Myeloid Leukemia with Normal Karyotype

    Dong‐Hwan Kim, Boram Han, Kyusang Lee et al.

    Blood

  8. RNA-mediated Disease Mechanism of Spinocerebellar Ataxia Type 10

    Tohru Matsuura

    Rinsho Shinkeigaku

  9. The clinical features and genetic diagnosis in a large olivopontocerebellar atrophy type 1 family

    Hong Guo, Yun Bai, Yong Fu et al.

    Int J Genet

  10. The clinical features and genetic diagnosis of hereditary ataxia

    HE Yan-bi

  11. 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

  12. Trinucleotide-Expansion Diseases

    Arthur J.L. Cooper, John P. Blass

    Advances in neurobiology

    Book chapter

  13. 中国汉族人群脊髓小脑性共济失调1、2、3、6、7、8、10、12、17亚型和齿状核红核苍白球路易体萎缩亚型多核苷酸正常重复次数范围研究

    王俊岭, 吴允钦, 雷立芳 et al.

    中华医学遗传学杂志

2009

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

    Tan JQ, Wang P, Hu QP et al.

    Yi chuan = Hereditas

  2. [Molecular genetic approach to spinocerebellar ataxias]

    Ishikawa K, Ishiguro T, Takahashi M et al.

    Rinsho shinkeigaku = Clinical neurology

    Review

  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. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy in Chinese Han population

    Junling Wang, Qian Xu, Lifang Lei et al.

    Chin J Neurol

  5. P-3. Investigation of the spinocerebellar ataxia type 10 mutation in the Cypriot population

    Christina Votsi, Anthi Georghiou, Themis R. Kyriakides et al.

    PubMed Central

  6. PTPRR, cerebellum, and motor coordination

    Schmitt I, Bitoun E, Manto M

    Cerebellum

    Review

  7. Spinocerebellar Atrophy

    Mario‐Ubaldo Manto, P. Jissendi

    Elsevier eBooks

  8. 中国汉族人群SCA1、2、3、6、7、8、10、12、17亚型和齿状核-红核-苍白球-路易体萎缩亚型频率分布

    王俊岭, 徐倩, 雷立芳 et al.

    Acta Scientiarum Naturalium Universitatis Sunyatseni

2008

4 papers
  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

    Free full text of Plasmids of the pRM/pRF family occur in diverse Rickettsia species

  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

4 papers
  1. Autosomal-dominante neurodegenerative Erkrankung mit vorwiegend spinocerebellären Symptomen

    A Rosenbohm, P Seibler, K. Lohmann et al.

    Aktuelle Neurologie

  2. Case control analysis of repeat expansion size in ataxia

    Majounie E, Wardle M, Muzaimi M et al.

    Neuroscience letters

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

    Madsen LB, Thomsen B, Sølvsten CA et al.

    Neurogenetics

  4. Multiplex families with multiple system atrophy

    Hara K, Momose Y, Tokiguchi S et al.

    Archives of neurology

2006

5 papers
  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. Genome wide characterization of unmethylated line-1 MAP : the implication as tumor marker

    Chureerat Phokaew, Apiwat Mutirangura

  5. RNA-mediated neuromuscular disorders

    Ranum LP, Cooper TA

    Annual review of neuroscience

    Review

2005

9 papers
  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. Analysis of molecular diversity in Crinipellis perniciosa with AFLP markers

    R. C. Ploetz, Raymond J. Schnell, Zhentu Ying et al.

    European Journal of Plant Pathology

  4. 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

    Case report

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

    Jiang H, Tang BS, Xu B et al.

    Chinese medical journal

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

    Mutsuddi M, Rebay I

    RNA biology

    Review

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

    Armstrong J, Bonaventura I, Rojo A et al.

    Neuroscience letters

    Case report

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

    Jiang H, Tang B, Xia K et al.

    Journal of the neurological sciences

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

    Dagda RK, Barwacz CA, Cribbs JT et al.

    The Journal of biological chemistry

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

2004

9 papers
  1. A study on presymptomatic testing for spinocerebellar ataxias

    Liang Xiuling

    Journal of Brain and Nervous Diseases

  2. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

    Tsai HF, Liu CS, Leu TM et al.

    Acta neurologica Scandinavica

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

    Sinha KK, Worth PF, Jha DK et al.

    Journal of neurology, neurosurgery, and psychiatry

    Free full text of Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

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

    Andrés AM, Soldevila M, Lao O et al.

    Journal of molecular evolution

    Comparative Study

  5. Frequency of different subtype of spinocerebellar ataxia in Hans of South China

    谢秋幼, 梁秀龄, 李洵桦

    Zhonghua jianyan yixue zazhi

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

    Satoh J, Yamamura T

    Cellular and molecular neurobiology

    Free full text of Gene expression profile following stable expression of the cellular prion protein

  7. Health notes

    Byron Y. Newman

    Optometry

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

    Brusco A, Gellera C, Cagnoli C et al.

    Archives of neurology

    Comparative Study

  9. Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families

    Shimizu Y, Yoshida K, Okano T et al.

    Journal of human genetics

    Comparative Study

2003

8 papers
  1. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23

    Chung MY, Lu YC, Cheng NC et al.

    Brain

  2. DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats

    Kazuhiro Sanpei, Takeshi Ikeuchi, Shoji Tsuji

    Neurogenetics

    Book chapter

  3. Dynamics of CAG repeat loci revealed by the analysis of their variability

    Andrés AM, Lao O, Soldevila M et al.

    Human mutation

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

    Matsumura R, Futamura N, Ando N et al.

    Acta neurologica Scandinavica

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

    Dobson DE, Mengeling BJ, Cilmi S et al.

    The Journal of biological chemistry

  6. SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6

    Anna Sułek, Dorota Hoffman‐Zacharska, Elżbieta Zdzienicka et al.

    The American Journal of Human Genetics

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

    Kuoppamäki M, Giunti P, Quinn N et al.

    Movement disorders

    Review

  8. The hereditary spinocerebellar ataxias in Japan

    Sasaki H, Yabe I, Tashiro K

    Cytogenetic and genome research

    Review

2002

6 papers
  1. CONTRIBUTION A LA RECHERCHE DE VULNERABILITE A LA SCHIZOPHRENIE : ETUDE DE REGIONS ET DE GENES CANDIDATS

    Stéphanie Bauché

    HAL

  2. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

    Maruyama H, Izumi Y, Morino H et al.

    American journal of medical genetics

  3. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy

    Filla A, De Michele G, Cocozza S et al.

    Neurology

    Case report

  4. Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder

    Hedera P, Rainier S, Zhao XP et al.

    Neurology

  5. Spinocerebellar ataxia : a clinical and molecular genetic study

    Worth PF

    University College London

  6. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

    van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC et al.

    Neurology

2001

4 papers
  1. Análisis molecular de las ataxias espinocerebelosas para los genes 1,2,3,6,7,8 y FRDA en la población colombiana

    M. L. Gómez, Chris Duran, Olga Lucía Pedraza et al.

    LA Referencia

  2. Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation

    Miyajima H, Kono S, Takahashi Y et al.

    Neurology

    Case report

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

    Devos D, Schraen-Maschke S, Vuillaume I et al.

    Neurology

    Case report

  4. The molecular genetics of the spinocerebellar ataxias

    Thomas Klockgether

    Schweizer Archiv für Neurologie und Psychiatrie

2000

3 papers
  1. Genetic background of apparently idiopathic sporadic cerebellar ataxia

    Schöls L, Szymanski S, Peters S et al.

    Human genetics

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

    Onodera Y, Aoki M, Tsuda T et al.

    Journal of the neurological sciences

  3. Molecular cloning and mapping of the brain-abundant B1gamma subunit of protein phosphatase 2A, PPP2R2C, to human chromosome 4p16

    Hu P, Yu L, Zhang M et al.

    Genomics

1997

2 papers
  1. Seleção de genótipos para produção de manteiga de cacau no Vale do Ribeira, São Paulo, Brasil

    Maria Luiza Sant’Anna Tucci

  2. АКТИВНОСТИ ИОНОВ И ИОННЫХ АССОЦИАТОВ В РАСТВОРАХ ЭЛЕКТРОЛИТОВ И МЕТОД ИХ РАСЧЕТА

    А. Д. Дубровский, А. В. Федоров, И. И. Чуев

    Electronic scientific archive of UrFU

1991

1 paper
  1. [Myocardial infarction: comparison of anatomo-pathological findings from hearts with and without severe coronary atherosclerosis in 194 necropsy cases]

    Guitierrez PS, Higuchi Mde L, de Moraes CF et al.

    Arquivos brasileiros de cardiologia

    Comparative Study

1988

1 paper
  1. FRIEDREICH'S ATAXIA IN KATHIKAS-ARODHES, CYPRUS

    Geoffrey Dean, Susan Chamberlain, Lefkos Middleton

    The Lancet

Undated

2 papers
  1. Hereditary Ataxia Overview

    Perlman S

    GeneReviews(®)

    Review

  2. Spinocerebellar Ataxia Type 15 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

    Storey E

    GeneReviews(®)

    Review