Machado‐Joseph disease: An autosomal dominant motor system degeneration

No abstract is available for this paper.

• Publication year

  1992

• Venue

  Movement Disorders

• Publication date

  Unknown publication date

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1002/mds.870070302PMID 1620135
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

  1991cited by this paper
• The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

  1991cited by this paper
• Autosomal dominant cerebellar phenotypes

  1990cited by this paper
• A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies.

  1989cited by this paper
• Normal cerebellar glutamate dehydrogenase protein in spinocerebellar degeneration.

  1989cited by this paper
• Molecular genetics of Joseph disease

  1988cited by this paper
• Hereditary dentatorubral‐pallidoluysian atrophy

  1988cited by this paper
• 'The stumbling disease': a case study of stigma among Azorean-Portuguese.

  1987cited by this paper
• Glutamate and malate dehydrogenase activities in Joseph disease and olivopontocerebellar atrophy

  1987cited by this paper
• Machado-Joseph-Azorean disease in India.

  1986cited by this paper
• Joseph's disease: Clinical and pathological studies in a Japanese family

  1986cited by this paper
• Machado-Joseph disease: linkage analysis between the loci for the disease and 18 protein markers.

  1986cited by this paper
• Machado-Joseph disease in a Sicilian-American family.

  1986cited by this paper
• The natural history of Machado-Joseph disease: An analysis of 138 personally examined cases

  1984cited by this paper
• Joseph disease: an autosomal dominant motor system degeneration.

  1984cited by this paper
• Genetics of neurological and psychiatric disorders.

  1983cited by this paper
• Joseph disease in a non‐Portuguese family

  1983cited by this paper
• The Olivopontocerebellar Atrophies

  1982cited by this paper
• Dentatorubropallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form.

  1982cited by this paper
• Joseph disease and Huntington disease

  1981cited by this paper
• Clinical criteria for diagnosis of Machado‐Joseph disease

  1980cited by this paper
• Effects of chlorpromazine and naloxone on growth hormone secretion in rats.

  1980cited by this paper
• Genetic variation and neurological disease

  1980cited by this paper
• Joseph disease

  1979cited by this paper
• Autosomal dominant neurological disorders

  1978cited by this paper
• DIFFERENTIATION OF NEUROBLASTOMA, GLIOMA, AND HYBRID CELLS IN CULTURE AS MEASURED BY THE SYNTHESIS OF SPECIFIC PROTEIN SPECIES: EVIDENCE FOR NEUROBLAST‐GLIOBLAST RECIPROCAL GENETIC REGULATION

  1978cited by this paper
• Autosomal dominant system degeneration in Portuguese families of the Azores Islands

  1978cited by this paper
• Azorean disease of the nervous system.

  1977cited by this paper
• Azorean disease of the nervous system.

  1977cited by this paper
• Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing.

  1977cited by this paper
• Autosomal dominant striatonigral degeneration

  1976cited by this paper
• Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities.

  1974cited by this paper
• Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

  1972cited by this paper
• Machado disease

  1972cited by this paper
• THE OLIVOPONTOCEREBELLAR ATROPHIES: A REVIEW

  1970cited by this paper

• Long-term globus pallidus internus deep brain stimulation in a young patient with spinocerebellar ataxia type 3 initially presenting with levodopa-responsive parkinsonism: a 6-year follow-up case report and literature review

  2025cites this paper
• Extracellular Vesicles-Associated AAVs for the treatment of Machado-Joseph Disease.

  2025cites this paper
• Infrared free electron laser-irradiated polyleucine does not exert aggregates-induced aversive effects on mouse brain

  2024cites this paper
• Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?

  2024cites this paper
• Antisense Oligonucleotide Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice

  2023cites this paper
• Genetic Ablation of Inositol 1,4,5-Trisphosphate Receptor Type 2 (IP3R2) Fails to Modify Disease Progression in a Mouse Model of Spinocerebellar Ataxia Type 3

  2023cites this paper
• Drosophila as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3

  2022cites this paper
• The autophagy‐enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado–Joseph disease

  2021cites this paper
• Neuropathology of Ataxias

  2021cites this paper
• Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

  2021cites this paper
• Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report

  2021cites this paper
• Targeting the VCP-binding motif of ataxin-3 improves phenotypes in Drosophila models of Spinocerebellar Ataxia Type 3

  2021cites this paper
• ULK overexpression mitigates motor deficits and neuropathology in mouse models of Machado-Joseph disease.

  2021cites this paper
• In vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3

  2020cites this paper
• Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock

  2020influential citation
• Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man.

  2020cites this paper
• Antisense oligonucleotide therapy rescues aggresome formation in a novel Spinocerebellar Ataxia type 3 human embryonic stem cell line

  2019cites this paper
• Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease

  2019cites this paper
• Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

  2019cites this paper
• Protective roles of carbonic anhydrase 8 in Machado–Joseph Disease

  2019cites this paper
• Clinical Features of Machado-Joseph Disease.

  2018cites this paper
• The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.

  2018cites this paper
• Motor neuron degeneration correlates with respiratory dysfunction in SCA1

  2018cites this paper
• Developing an antisense oligonucleotide treatment for Spinocerebellar Ataxia Type 3

  2018cites this paper
• Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3

  2018cites this paper
• Writer’s cramp: a new dystonic feature in spinocerebellar ataxia type 3

  2018cites this paper
• Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy

  2018cites this paper
• Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

  2018cites this paper
• Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice

  2018cites this paper
• Pharmacological Therapies for Machado-Joseph Disease.

  2018cites this paper
• Polyglutamine expansion diseases: More than simple repeats.

  2017cites this paper
• Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

  2017cites this paper
• Investigation of the multi-domain aggregation mechanism of ataxin-3

  2017cites this paper
• Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia

  2016cites this paper
• Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease

  2016cites this paper
• Motor cortical dysfunction develops in spinocerebellar ataxia type 3.

  2016cites this paper
• Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders

  2016cites this paper
• Survival and severity in dominant cerebellar ataxias

  2015cites this paper
• Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

  2015cites this paper
• Gene targeting in human pluripotent cell-derived neural stem cells for the study and treatment of neurological disorders.

  2015cites this paper
• Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance.

  2015cites this paper
• Hereditary Cerebellar Ataxias: A Korean Perspective

  2015cites this paper
• An insight into advances in the pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3

  2015cites this paper
• Normal and pathogenic ataxin-3: biological roles, toxicity and fibrillogenesis

  2014influential citation
• Spinocerebellar degeneration (SCD)

  2014cites this paper
• RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease

  2014cites this paper
• Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies

  2013cites this paper
• Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease.

  2013cites this paper
• Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

  2013cites this paper
• AMPLIO ESPECTRO FENOTÍPICO DE LA SCA-3 PARAPARESIA ESPÁSTICA HEREDITARIA

  2013cites this paper
• Trinucleotide Repeats: A Structural Perspective

  2013cites this paper
• [The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].

  2013cites this paper
• Toward understanding Machado-Joseph disease.

  2012cites this paper
• Identificação de compostos que modulam a patogénese da doença de Machado-Joseph em C. elegans : autofagia

  2012cites this paper
• 6 Machado-Joseph Disease / Spinocerebellar Ataxia Type 3

  2012cites this paper
• Machado-Joseph disease and other rare spinocerebellar ataxias.

  2012cites this paper
• Neocortical Atrophy in Machado‐Joseph Disease: A Longitudinal Neuroimaging Study

  2012cites this paper
• Spinocerebellar Ataxia-Type 3

  2012cites this paper
• Movement Disorders: A Video Atlas: A Video Atlas

  2012cites this paper
• Machado-Joseph disease/spinocerebellar ataxia type 3.

  2012cites this paper
• Polyglutamine diseases: the special case of ataxin-3 and Machado-Joseph disease.

  2011cites this paper
• Insights into pathology and neurodegeneration features in a transgenic mouse model of Machado-Joseph disease

  2011cites this paper
• Interaction of ataxin-2 and ataxin-3 in Machado-Joseph disease

  2011cites this paper
• Motor System III: Cerebellum

  2011cites this paper
• Thalamic Volume and Dystonia in Machado–Joseph Disease

  2011cites this paper
• S100B protein in neurodegenerative disorders

  2011cites this paper
• Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

  2011cites this paper
• Milestones in ataxia

  2011cites this paper
• Structural Transformation of the Tandem Ubiquitin-Interacting Motifs in Ataxin-3 and Their Cooperative Interactions with Ubiquitin Chains

  2010cites this paper
• Transcranial sonography in ataxia.

  2010cites this paper
• Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3?

  2010cites this paper
• Spectral analysis of heart rate variability in patients with Machado-Joseph disease.

  2010cites this paper
• Caring for Machado-Joseph disease: current understanding and how to help patients.

  2010influential citation
• Misfolding promotes the ubiquitination of polyglutamine-expanded ataxin-3, the defective gene product in SCA3/MJD

  2009cites this paper
• Axonal Dysfunction in the Deep White Matter in Machado‐Joseph Disease

  2009cites this paper
• Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation.

  2008cites this paper
• Muscle excitability abnormalities in Machado-Joseph disease.

  2008cites this paper
• SCA3: Neurological features, pathogenesis and animal models

  2008cites this paper
• Clinical Data in Patients With MJD , Patients With ALS , and Healthy Control Subjectsa Variable Patients

  2008cites this paper
• Chapter 35 – Ataxias

  2007cites this paper
• Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy.

  2007cites this paper
• CAG repeat disorder models and human neuropathology: similarities and differences

  2007cites this paper
• Stiff man–like syndrome and generalized myokymia in spinocerebellar ataxia type 3

  2006cites this paper
• Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL.

  2006cites this paper
• Expanded polyglutamines impair synaptic transmission and ubiquitin–proteasome system in Caenorhabditis elegans

  2006cites this paper
• Aggregationsverhalten des Polyglutaminproteins Ataxin-3 in vitro und in Zellkultur

  2006cites this paper
• Autonomic dysfunction in Machado-Joseph disease.

  2005cites this paper
• S100B and NSE serum concentrations in Machado Joseph disease.

  2005cites this paper
• Sulfamethoxazole-trimethoprim double-blind, placebo-controlled, crossover trial in Machado-Joseph disease: sulfamethoxazole-trimethoprim increases cerebrospinal fluid level of biopterin

  2005cites this paper
• Non‐movement disorder heralds symptoms of Machado‐Joseph disease years before ataxia

  2005cites this paper
• Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6.

  2005cites this paper
• The molecular genetics of the spinocerebellar ataxias

  2004cites this paper
• Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.

  2004cites this paper
• Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.

  2004cites this paper
• Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.

  2004cites this paper
• Expression of Expanded Polyglutamine Protein Induces Behavioral Changes in Drosophila (Polyglutamine-Induced Changes in Drosophila)

  2004cites this paper
• Effects of Tandospirone on “5-HT1A Receptor-Associated Symptoms” in Patients with Machado-Josephe Disease: An Open-Label Study

  2004cites this paper
• Genetic Polymorphism of MJD1 Alleles and Molecular Analysis of SCA3 Patients from Rio de Janeiro, Brazil

  2004cites this paper
• Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

  2004cites this paper
• Metabolic profiles to define the genome: can we hear the phenotypes?

  2004cites this paper