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Quoted phrase not found in phrase index: "Machado-Joseph disease type 2"
Page 1
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 o …
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 …
SARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.
COVIDSurg Collaborative, GlobalSurg Collaborative. COVIDSurg Collaborative, GlobalSurg Collaborative. Br J Surg. 2021 Sep 27;108(9):1056-1063. doi: 10.1093/bjs/znab101. Br J Surg. 2021. PMID: 33761533 Free PMC article.
METHODS: The primary outcome was the number needed to vaccinate (NNV) to prevent one COVID-19-related death in 1 year. NNVs were based on postoperative SARS-CoV-2 rates and mortality in an international cohort study (surgical patients), and community SARS-CoV-2 inci …
METHODS: The primary outcome was the number needed to vaccinate (NNV) to prevent one COVID-19-related death in 1 year. NNVs were based on po …
Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB. Saute JAM, et al. Adv Exp Med Biol. 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. Adv Exp Med Biol. 2018. PMID: 29427112 Review.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG repeat expansion at ATXN3 gene. ...Ataxia quantitative scales or its composite scores can be us …
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological s …
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP. Miranda CO, et al. Acta Neuropathol Commun. 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. Acta Neuropathol Commun. 2022. PMID: 35305685 Free PMC article.
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. ...
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA wor …
Sleep-disordered breathing in neurodegenerative diseases.
Gaig C, Iranzo A. Gaig C, et al. Curr Neurol Neurosci Rep. 2012 Apr;12(2):205-17. doi: 10.1007/s11910-011-0248-1. Curr Neurol Neurosci Rep. 2012. PMID: 22249490 Review.
Sleep disorders are common in neurodegenerative diseases such as Parkinson's disease (PD), multiple system atrophy (MSA), amyotrophic lateral sclerosis (ALS), hereditary ataxias, and Alzheimer's disease (AD). ...SDB can also occur in some hereditary ataxias, such as …
Sleep disorders are common in neurodegenerative diseases such as Parkinson's disease (PD), multiple system atrophy (MSA), amyotrophic …
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
Donis KC, Saute JA, Krum-Santos AC, Furtado GV, Mattos EP, Saraiva-Pereira ML, Torman VL, Jardim LB. Donis KC, et al. Neurogenetics. 2016 Apr;17(2):107-13. doi: 10.1007/s10048-016-0473-5. Epub 2016 Jan 16. Neurogenetics. 2016. PMID: 26780339
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a cohort of SCA3/MJD with onset before 12 years of age, comparing their disease progression with the progression observed in patients wi …
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a c …
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Tezenas du Montcel S, et al. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16. Neurology. 2023. PMID: 36797067 Free PMC article.
We looked for clinical, imaging, or biological markers that are present at an early stage of the disease. METHODS: We enrolled carriers of a pathologic ATXN1 or ATXN3 expansion and controls from 18 US and 2 European ataxia referral centers. ...RESULTS: We enrolled 2 …
We looked for clinical, imaging, or biological markers that are present at an early stage of the disease. METHODS: We enrolled carrie …
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network. Rodríguez-Labrada R, et al. Cerebellum. 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. Cerebellum. 2020. PMID: 32086717 Review.
In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. ...
In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been …
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).
Rüb U, Brunt ER, Deller T. Rüb U, et al. Curr Opin Neurol. 2008 Apr;21(2):111-6. doi: 10.1097/WCO.0b013e3282f7673d. Curr Opin Neurol. 2008. PMID: 18317266 Review.
PURPOSE OF REVIEW: This review summarizes recent neuropathological findings in spinocerebellar ataxia type 3 and discusses their relevance for clinical neurology. RECENT FINDINGS: The extent of the spinocerebellar ataxia type 3 related central nervous neurodegenerat …
PURPOSE OF REVIEW: This review summarizes recent neuropathological findings in spinocerebellar ataxia type 3 and discusses their rele …
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY. Banfi S, et al. Baillieres Clin Neurol. 1994 Aug;3(2):281-95. Baillieres Clin Neurol. 1994. PMID: 7952848 Review.
In the past year, significant research progress has been accomplished by applying molecular genetic studies to the dominantly inherited spinocerebellar ataxias. Spinocerebellar ataxia type 1 (SCA1), which maps to the short arm of chromosome 6, has been found to be caused b …
In the past year, significant research progress has been accomplished by applying molecular genetic studies to the dominantly inherited spin …
71 results