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Page 1
Machado-Joseph disease/spinocerebellar ataxia type 3.
Paulson H. Paulson H. Handb Clin Neurol. 2012;103:437-49. doi: 10.1016/B978-0-444-51892-7.00027-9. Handb Clin Neurol. 2012. PMID: 21827905 Free PMC article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. ...The specific properties of MJD/SCA3 and its disease protein are discussed in light of what is known ab …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inh …
Spinocerebellar ataxia.
Klockgether T, Mariotti C, Paulson HL. Klockgether T, et al. Nat Rev Dis Primers. 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. Nat Rev Dis Primers. 2019. PMID: 30975995 Review.
Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5. ...However, the development of effective therapies is hampered by the heterogeneity of the …
Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that a …
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.
Matos CA, de Almeida LP, Nóbrega C. Matos CA, et al. J Neurochem. 2019 Jan;148(1):8-28. doi: 10.1111/jnc.14541. Epub 2018 Oct 5. J Neurochem. 2019. PMID: 29959858 Free article. Review.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. ...The current review analyses the available studies dedicated to the i …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely rega …
Pathogenesis of SCA3 and implications for other polyglutamine diseases.
McLoughlin HS, Moore LR, Paulson HL. McLoughlin HS, et al. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. Neurobiol Dis. 2020. PMID: 31669734 Free PMC article. Review.
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dent …
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in t …
The neuroprotective effects of caffeine in neurodegenerative diseases.
Kolahdouzan M, Hamadeh MJ. Kolahdouzan M, et al. CNS Neurosci Ther. 2017 Apr;23(4):272-290. doi: 10.1111/cns.12684. CNS Neurosci Ther. 2017. PMID: 28317317 Free PMC article. Review.
A study found caffeine to be associated with earlier age of onset of Huntington's disease (HD) at intakes >190 mg/d, but studies in animal models have found equivocal results. ...However, further research is needed to investigate the effects of caffeine on PD in women. …
A study found caffeine to be associated with earlier age of onset of Huntington's disease (HD) at intakes >190 mg/d, but studies i …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. ...
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/ …
Spinocerebellar ataxias.
Teive HA. Teive HA. Arq Neuropsiquiatr. 2009 Dec;67(4):1133-42. Arq Neuropsiquiatr. 2009. PMID: 20069236 Free article. Review.
RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. ...CONCLUSIONS: Detailed clinica …
RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common typ …
Antisense therapies for movement disorders.
Scoles DR, Pulst SM. Scoles DR, et al. Mov Disord. 2019 Aug;34(8):1112-1119. doi: 10.1002/mds.27782. Epub 2019 Jul 8. Mov Disord. 2019. PMID: 31283857 Review.
Currently, few disease-modifying therapies exist for degenerative movement disorders. ...Successes with these two diseases have heightened interest in academia and the pharmaceutical industry to develop antisense oligonucleotides for several movement disorders, including, …
Currently, few disease-modifying therapies exist for degenerative movement disorders. ...Successes with these two diseases have heigh …
Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Pedroso JL, França MC Jr, Braga-Neto P, D'Abreu A, Saraiva-Pereira ML, Saute JA, Teive HA, Caramelli P, Jardim LB, Lopes-Cendes I, Barsottini OG. Pedroso JL, et al. Mov Disord. 2013 Aug;28(9):1200-8. doi: 10.1002/mds.25513. Epub 2013 Jun 17. Mov Disord. 2013. PMID: 23775899 Review.
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression …
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the hi …
Animal Models of Machado-Joseph Disease.
Schmidt J, Schmidt T. Schmidt J, et al. Adv Exp Med Biol. 2018;1049:289-308. doi: 10.1007/978-3-319-71779-1_15. Adv Exp Med Biol. 2018. PMID: 29427110 Review.
Animal models are an important tool to study the pathophysiology of Machado-Joseph Disease (MJD). So far, animal models using simple organisms (like the round worm Caenorhabditis elegans or the fruit fly drosophila) but also mammalian models (mouse and even a …
Animal models are an important tool to study the pathophysiology of Machado-Joseph Disease (MJD). So far, animal models …
150 results