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Intranasal administration of trehalose reduces α-synuclein oligomers and accelerates α-synuclein aggregation.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae193
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- Publication type:
- Article
Understanding Differences Between Phylogenetic and Pedigree-Derived mtDNA Mutation Rate: A Model Using Families from the Azores Islands (Portugal).
- Published in:
- Molecular Biology & Evolution, 2005, v. 22, n. 6, p. 1490, doi. 10.1093/molbev/msi141
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- Publication type:
- Article
Novel candidate blood-based transcriptional biomarkers of machado-joseph disease.
- Published in:
- Movement Disorders, 2015, v. 30, n. 7, p. 968, doi. 10.1002/mds.26238
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- Publication type:
- Article
Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 14, p. 1922, doi. 10.3390/cells12141922
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- Publication type:
- Article
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
- Published in:
- 2017
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- Publication type:
- journal article
Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene ( ATXN3).
- Published in:
- Neurogenetics, 2010, v. 11, n. 2, p. 193, doi. 10.1007/s10048-009-0216-y
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- Publication type:
- Article
Analysis of segregation patterns in Machado–Joseph disease pedigrees.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 10, p. 920, doi. 10.1007/s10038-008-0330-y
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- Publication type:
- Article
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 4, p. 333, doi. 10.1007/s10038-008-0261-7
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- Publication type:
- Article
Identification of multiple system atrophy mimicking Parkinson's disease or progressive supranuclear palsy.
- Published in:
- 2021
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- Publication type:
- journal article
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.
- Published in:
- 2020
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- Publication type:
- journal article
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
- Published in:
- 2016
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- Publication type:
- journal article
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 1, p. 119, doi. 10.1007/s12035-018-1069-x
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- Publication type:
- Article
DNA methylation patterns in the frontal lobe white matter of multiple system atrophy, Parkinson's disease, and progressive supranuclear palsy: a cross-comparative investigation.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02764-4
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- Publication type:
- Article
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 1, p. 77, doi. 10.1007/s00401-023-02583-z
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- Publication type:
- Article
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 3, p. 383, doi. 10.1007/s00401-021-02399-9
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- Publication type:
- Article
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 1, p. 135, doi. 10.1007/s00401-019-02074-0
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- Publication type:
- Article
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
- Published in:
- 2015
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- Publication type:
- Letter
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 271, doi. 10.1002/mdc3.12190
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- Publication type:
- Article
Genetic defects are common in myopathies with tubular aggregates.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 4, doi. 10.1002/acn3.51477
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- Publication type:
- Article
Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis.
- Published in:
- 2020
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- Publication type:
- Letter
The (CAG)<sub>n</sub> tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 621, doi. 10.1038/ejhg.2009.215
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- Publication type:
- Article
Patterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease.
- Published in:
- Neurodegenerative Diseases, 2013, v. 11, n. 4, p. 206, doi. 10.1159/000339207
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- Publication type:
- Article
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 9, p. 2705, doi. 10.1007/s00415-020-09827-y
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- Publication type:
- Article
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment.
- Published in:
- 2013
- By:
- Publication type:
- Letter
The contribution of DNA methylation to the (dys)function of oligodendroglia in neurodegeneration.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01607-9
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- Publication type:
- Article
Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106931
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- Publication type:
- Article
Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
- Published in:
- Cerebellum, 2023, v. 22, n. 1, p. 37, doi. 10.1007/s12311-021-01358-0
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- Publication type:
- Article
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
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- Cerebellum, 2017, v. 16, n. 1, p. 262, doi. 10.1007/s12311-016-0769-x
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- Publication type:
- Article
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
- Published in:
- 2015
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- Publication type:
- Letter
Sequence Analysis of 5′ Regulatory Regions of the Machado-Joseph Disease Gene ( ATXN3).
- Published in:
- Cerebellum, 2012, v. 11, n. 4, p. 1045, doi. 10.1007/s12311-012-0373-7
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- Publication type:
- Article
Alzheimer's disease pathology concomitant with memory impairment in late-onset multiple system atrophy.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12878
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- Publication type:
- Article
Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12872
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- Publication type:
- Article
Pathological substrate of memory impairment in multiple system atrophy.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12844
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- Publication type:
- Article
Neurodegenerative movement disorders: An epigenetics perspective and promise for the future.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 7, p. 897, doi. 10.1111/nan.12757
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- Publication type:
- Article
MOBP and HIP1 in multiple system atrophy: New α‐synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 5, p. 640, doi. 10.1111/nan.12688
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- Publication type:
- Article
Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.
- Published in:
- NeuroMolecular Medicine, 2017, v. 19, n. 1, p. 41, doi. 10.1007/s12017-016-8416-8
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- Publication type:
- Article
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-88
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- Publication type:
- Article
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Machado-Joseph Disease: from first descriptions to new perspectives.
- Published in:
- 2011
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- Publication type:
- journal article
Machado-Joseph Disease: from first descriptions to new perspectives.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 35, doi. 10.1186/1750-1172-6-35
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- Publication type:
- Article
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-17
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- Publication type:
- Article
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).
- Published in:
- 2014
- By:
- Publication type:
- journal article
Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?
- Published in:
- 2015
- By:
- Publication type:
- commentary
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 1, p. 83, doi. 10.1007/s12031-015-0646-y
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- Publication type:
- Article
Transcript Diversity of Machado-Joseph Disease Gene ( ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 49, n. 3, p. 539, doi. 10.1007/s12031-012-9832-3
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- Publication type:
- Article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
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- Publication type:
- Article
Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias.
- Published in:
- Human Mutation, 2012, v. 33, n. 9, p. 1315, doi. 10.1002/humu.22148
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- Publication type:
- Article
Exome sequencing uncovers hidden pathways in familial and sporadic ALS.
- Published in:
- Nature Neuroscience, 2015, v. 18, n. 5, p. 611, doi. 10.1038/nn.4012
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- Publication type:
- Article
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149557
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- Publication type:
- Article
Genetic Profiling of the Azores Islands (Portugal): Data from 10 X-Chromosome STRs.
- Published in:
- American Journal of Human Biology, 2010, v. 22, n. 2, p. 221, doi. 10.1002/ajhb.20971
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- Publication type:
- Article