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Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 10/2016, Volume 74, Issue 10, pp. 858 - 860
Journal Article
ACTA NEUROLOGICA BELGICA, ISSN 0300-9009, 06/2019, Volume 119, Issue 2, pp. 291 - 292
Journal Article
LANCET NEUROLOGY, ISSN 1474-4422, 10/2013, Volume 12, Issue 10, pp. 978 - 988
Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are the most common known genetic cause of frontotemporal dementia... 
CAG REPEAT | SPINOCEREBELLAR ATAXIA TYPE-1 | MYOTONIC-DYSTROPHY TYPE-1 | INSTABILITY | MACHADO-JOSEPH-DISEASE | CTG REPEATS | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | SOMATIC MOSAICISM | HEXANUCLEOTIDE REPEAT | C9ORF72 | CLINICAL NEUROLOGY
Journal Article
Neuropharmacology, ISSN 0028-3908, 05/2017, Volume 117, pp. 434 - 446
Spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) is characterized by the repetition of a CAG codon in the ataxin-3 gene (ATXN3), which leads... 
Polyglutamine disease | Machado-Joseph disease | Tryptophan metabolism | Spinocerebellar ataxia | Tryptophan 2, 3-dioxygenase
Journal Article
Revista Medica de Chile, ISSN 0034-9887, 06/2018, Volume 146, Issue 6, pp. 702 - 707
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 9, pp. 1463 - 1473
Abstract Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of CAG repeats in the ATXN3 gene leading to an elongated polyglutamine tract in the... 
NUCLEAR-LOCALIZATION | PROTEIN | SCA3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | MACHADO-JOSEPH-DISEASE | MOUSE MODEL | GENETICS & HEREDITY | NEURODEGENERATION | EXPRESSION | MOTOR DYSFUNCTION | CONDITIONAL MODEL | TRANSGENIC MICE
Journal Article
Internal Medicine, ISSN 0918-2918, 2019
Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have... 
sensory ataxia | hot cross bun sign | magnetic resonance imaging | Machado-Joseph disease | neuronopathy
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 01/2019, Volume 121, pp. 263 - 273
Cerebellar Purkinje cells (PCs) are the sole output neurons of the cerebellar cortex, and damage to PCs results in motor deficits. Spinocerebellar ataxia type... 
Cerebellum | AAV vector | Slow excitatory postsynaptic current | Spinocerebellar ataxia type 3 | Purkinje cell | Type 1 metabotropic glutamate receptor | Retinoid-related orphan receptor alpha | Machado–Joseph disease
Journal Article
Nature, ISSN 0028-0836, 05/2017, Volume 545, Issue 7652, pp. 108 - 111
Nine neurodegenerative diseases are caused by expanded polyglutamine (polyQ) tracts in different proteins, such as huntingtin in Huntington's disease and... 
PATHOGENESIS | CELLS | PROTEIN | MULTIDISCIPLINARY SCIENCES | MACHADO-JOSEPH-DISEASE | MUTANT HUNTINGTIN | ATAXIN-3 | INTRANUCLEAR INCLUSIONS | LC3 | MOUSE MODELS | AGGREGATION | Humans | Ubiquitin - metabolism | Male | Neurons - cytology | Autophagy | Brain - metabolism | Peptides - metabolism | Protein Domains | Ataxin-3 - chemistry | Female | Food Deprivation | Neurons - metabolism | Protein Stability | Ataxin-3 - metabolism | Disease Models, Animal | Binding, Competitive | Cell Line | Ataxin-3 - deficiency | Huntingtin Protein - metabolism | Mice, Inbred C57BL | Phagosomes - metabolism | Cells, Cultured | Mutant Proteins - genetics | Exons - genetics | Mutant Proteins - metabolism | Huntington Disease - metabolism | Huntingtin Protein - chemistry | Animals | Mutant Proteins - chemistry | Brain - pathology | Huntington Disease - genetics | Protein Binding | Mice | Huntingtin Protein - genetics | Mutation | Proteasome Endopeptidase Complex - metabolism | Beclin-1 - metabolism | Ataxin-3 - genetics | Physiological aspects | Autophagy (Cytology) | Neural circuitry | Observations | Huntingtons disease | Competition | Biotechnology | Huntingtin | Toxicity | Pathogenesis | Impairment | Biosynthesis | Kinases | Experiments | Degradation | Proteins | Scholarships & fellowships | Ataxin | Rodents | Spinocerebellar ataxia | Ataxia | Biocompatibility | Trinucleotide repeat diseases | Medical research | Starvation | Neurodegenerative diseases | Polyglutamine diseases | Huntington's disease | Neurological diseases | Machado-Joseph disease | Cell lines | Scientific imaging | Mass spectrometry | Phagocytosis | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 02/2019, Volume 397, pp. 138 - 140
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common spinocerebellar ataxia (SCA) worldwide. SCA3 presents with... 
Oromandibular dystonia | Spinocerebellar ataxia type 3 | Facial grimacing | Machado-Joseph disease | DIAGNOSIS | PROFILE | MACHADO-JOSEPH-DISEASE | NEUROSCIENCES | CLINICAL NEUROLOGY | Spinocerebellar ataxia | Parkinson's disease
Journal Article