| scholarly article | Q13442814 |
| P356 | DOI | 10.1212/WNL.28.7.703 |
| P698 | PubMed publication ID | 566869 |
| P2093 | author name string | C. Andrade | |
| P. Coutinho | |||
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pyramidal tracts | Q968731 |
| extrapyramidal tract | Q70080155 | ||
| P304 | page(s) | 703-709 | |
| P577 | publication date | 1978-07-01 | |
| P1433 | published in | Neurology | Q1161692 |
| P1476 | title | Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions | |
| P478 | volume | 28 |
| Q35882878 | A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease |
| Q57258705 | A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3) |
| Q37203613 | A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects |
| Q36366712 | Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic |
| Q43800477 | Analysis of segregation patterns in Machado-Joseph disease pedigrees. |
| Q33929425 | Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study |
| Q33644316 | Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels |
| Q38167681 | Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies |
| Q37399492 | Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells |
| Q30495698 | Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1. |
| Q46478928 | Autosomal dominant motor system degeneration in a black family |
| Q24675962 | Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 |
| Q36898033 | Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway. |
| Q48159639 | Cerebellar ataxia, dystonia, and tremor within a family: variable phenotypes of a single genetic disorder? |
| Q48863797 | Characteristics of oculomotor disorders of a family with Joseph's disease |
| Q28261862 | Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1 |
| Q37717405 | Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease |
| Q59842578 | Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease |
| Q34247421 | Classification of the hereditary ataxias and paraplegias |
| Q36869094 | Clinical and Molecular Analysis of Neurodegenerative Diseases |
| Q36672749 | Clinical aspects of hereditary ataxias |
| Q47649937 | Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). |
| Q45343846 | Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias |
| Q41364983 | Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene |
| Q36929755 | Cognition in hereditary ataxia |
| Q47153048 | Cognitive dysfunction in spinocerebellar ataxias |
| Q28655933 | Consensus paper: the cerebellum's role in movement and cognition |
| Q48607238 | Corino Andrade (1906-2005): a clinical geneticist before its own time |
| Q35643559 | Correlation between CAG repeat length and clinical features in Machado-Joseph disease |
| Q54935894 | Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia. |
| Q90604511 | Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis |
| Q28575230 | Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 |
| Q91900969 | Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease |
| Q92354437 | Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA) |
| Q38408049 | Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease |
| Q81665579 | Dominantly inherited ataxias. Part II |
| Q49096728 | Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus |
| Q34353488 | Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. |
| Q57319085 | Gender equality in Machado–Joseph disease |
| Q57969483 | Gender equality in Machado–Joseph disease |
| Q33948914 | Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene |
| Q52807274 | Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. |
| Q89836702 | Hexosamine Pathway Activation Improves Protein Homeostasis through the Integrated Stress Response |
| Q57419142 | Homozygous inheritance of the Machado-Joseph disease gene |
| Q47282463 | Human Olfactory Ensheathing Cell Transplantation Improves Motor Function in a Mouse Model of Type 3 Spinocerebellar Ataxia |
| Q33588823 | Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology |
| Q46303860 | Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3). |
| Q37201299 | Inositol 1,4,5-tripshosphate receptor, calcium signaling, and polyglutamine expansion disorders |
| Q49666213 | Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders |
| Q38985406 | Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3. |
| Q33627961 | Juvenile Parkinsonism: clinical and metabolic characteristics |
| Q28550502 | Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease |
| Q21202868 | Machado-Joseph Disease: from first descriptions to new perspectives. |
| Q48400388 | Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia |
| Q44113919 | Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies |
| Q34980862 | Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature |
| Q53160893 | Machado-Joseph disease in a Sicilian-American family. |
| Q44399147 | Machado-Joseph disease in an American-Italian family |
| Q38470590 | Machado-Joseph disease of Azorean ancestry in Brazil: the Catarina kindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred |
| Q58125311 | Machado-Joseph disease presenting as motor neuron disease |
| Q43923064 | Machado-Joseph disease with retinal degeneration and dementia |
| Q36275347 | Machado-Joseph disease: an autosomal dominant motor system degeneration |
| Q43709942 | Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. |
| Q58049134 | Machado–Joseph disease in three Scandinavian families |
| Q48331252 | Magnetic Resonance Imaging Findings of Machado–Joseph Disease: Histopathologic Correlation |
| Q35643880 | Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. |
| Q35207236 | Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes |
| Q35889646 | Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. |
| Q72220271 | Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage |
| Q43108994 | Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. |
| Q39644424 | Mouse ataxin-3 functional knock-out model. |
| Q37997384 | Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). |
| Q30502208 | Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways |
| Q48560224 | Non-movement disorder heralds symptoms of Machado-Joseph disease years before ataxia |
| Q46869076 | Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease |
| Q37514583 | Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3). |
| Q48690513 | Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3. |
| Q43475319 | Pattern of peripheral nerve involvement in Machado-Joseph disease: neuronopathy or distal axonopathy? A clinical and neurophysiological evaluation. |
| Q47548395 | Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease |
| Q27348697 | Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia |
| Q59199872 | Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease |
| Q36456023 | Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. |
| Q34981549 | Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias |
| Q31152886 | SCA3: neurological features, pathogenesis and animal models |
| Q57950160 | Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype |
| Q92621052 | Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease |
| Q30703360 | Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease |
| Q43608814 | Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). |
| Q48956344 | Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease |
| Q48787454 | Specific messenger RNA changes in Joseph disease cerebella |
| Q51034618 | Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. |
| Q42528149 | Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions |
| Q49818446 | Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia |
| Q48260243 | Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence |
| Q39123888 | Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients |
| Q38843338 | Spinocerebellar ataxia: relationship between phenotype and genotype - a review |
| Q35956314 | Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. |
| Q48915184 | Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease |
| Q71370139 | Sulfamethoxazole-trimethoprim double-blind, placebo-controlled, crossover trial in Machado-Joseph disease: sulfamethoxazole-trimethoprim increases cerebrospinal fluid level of biopterin |
| Q41736716 | The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls. |
| Q41527060 | The Neuropathology of CAG Repeat Diseases: Review and Update of Genetic and Molecular Features |
| Q53228856 | The international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale. |
| Q33992649 | The molecular biology of the autosomal-dominant cerebellar ataxias |
| Q43572129 | The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. |
| Q34382416 | The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes? |
| Q70500238 | The pathology of Machado-Joseph disease. Report of a possible homozygous case |
| Q68741717 | The peripheral neuropathy in Machado-Joseph disease |
| Q30410969 | Therapeutic prospects for spinocerebellar ataxia type 2 and 3. |
| Q37254846 | Toward RNAi therapy for the polyglutamine disease Machado-Joseph disease |
| Q35837355 | Toward understanding Machado-Joseph disease |
| Q45045855 | Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice |
| Q30432441 | Trinucleotide repeats: a structural perspective |
| Q48391656 | Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease |
| Q46133668 | Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3. |
| Q92690933 | Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor |
Search more.