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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 48"
Page 1
Effect of speech therapy on quality of life in patients with spinocerebelar ataxia type 3.
Diaféria G, Bommarito S, Braga Neto P, Park SW, Padovani M, Haddad F, Haddad L, Voos MC, Chien HF, Pedroso JL, Barsottini O. Diaféria G, et al. Arq Neuropsiquiatr. 2022 Oct;80(10):1017-1025. doi: 10.1055/s-0042-1755203. Epub 2022 Dec 19. Arq Neuropsiquiatr. 2022. PMID: 36535286 Free PMC article. Clinical Trial.
BACKGROUND: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and consequent deterioration in quality of life (QOL). ...The International Cooperative Ataxia Rating Scale scores were 32.4 20.2, and the Scale …
BACKGROUND: Individuals with spinocerebellar ataxia type 3 (SCA3) present communication and swallowing disorders, and conseque …
The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado-Joseph disease.
Vasconcelos-Ferreira A, Carmo-Silva S, Codêsso JM, Silva P, Martinez ARM, França MC Jr, Nóbrega C, Pereira de Almeida L. Vasconcelos-Ferreira A, et al. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12763. doi: 10.1111/nan.12763. Epub 2021 Oct 13. Neuropathol Appl Neurobiol. 2022. PMID: 34432315
AIMS: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited ataxia worldwide and is characterised by the accumulation of mutant ataxin-3 (mutATXN3) in different brain regions, leading to neuro …
AIMS: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited …
Immunodeficiency and infections in ataxia-telangiectasia.
Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Nowak-Wegrzyn A, et al. J Pediatr. 2004 Apr;144(4):505-11. doi: 10.1016/j.jpeds.2003.12.046. J Pediatr. 2004. PMID: 15069401
OBJECTIVE: To characterize the immunodeficiency in ataxia-telangiectasia (A-T) and to determine whether the immunodeficiency is progressive and associated with increased susceptibility to infections. STUDY DESIGN: Records of 100 consecutive patients with A-T from the Johns …
OBJECTIVE: To characterize the immunodeficiency in ataxia-telangiectasia (A-T) and to determine whether the immunodeficiency is progr …
Intravenous immunoglobulin therapy for autoantibody-positive cerebellar ataxia.
Nanri K, Okita M, Takeguchi M, Taguchi T, Ishiko T, Saito H, Otsuka T, Mitoma H, Koizumi K. Nanri K, et al. Intern Med. 2009;48(10):783-90. doi: 10.2169/internalmedicine.48.1802. Epub 2009 May 15. Intern Med. 2009. PMID: 19443972 Free article.
OBJECTIVE: It has been reported that autoimmune cerebellar ataxias, such as anti-glutamic acid decarboxylase (GAD)-antibody-positive cerebellar ataxia and gluten ataxia, are treatable. ...RESULTS: Treatment was effective in four cerebellar cortical atrophy pa …
OBJECTIVE: It has been reported that autoimmune cerebellar ataxias, such as anti-glutamic acid decarboxylase (GAD)-antibody-positive …
Central auditory processing in patients with spinocerebellar ataxia.
Zeigelboim BS, de Carvalho HA, Teive HA, Liberalesso PB, Jurkiewicz AL, da Silva Abdulmassih EM, Marques JM, Cordeiro ML. Zeigelboim BS, et al. Hear Res. 2015 Sep;327:235-44. doi: 10.1016/j.heares.2015.07.006. Epub 2015 Jul 14. Hear Res. 2015. PMID: 26183435
BACKGROUND: Autosomal dominant spinocerebellar ataxias (SCAs) are a group of rare and heterogeneous neurodegenerative diseases characterized by the presence of progressive cerebellar ataxia. ...METHODS: In a retrospective cross-sectional study, we subjected 4 …
BACKGROUND: Autosomal dominant spinocerebellar ataxias (SCAs) are a group of rare and heterogeneous neurodegenerative diseases …
Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non-Small Cell Lung Cancer.
Chen Y, Chen G, Li J, Huang YY, Li Y, Lin J, Chen LZ, Lu JP, Wang YQ, Wang CX, Pan LK, Xia XF, Yi X, Chen CB, Zheng XW, Guo ZQ, Pan JJ. Chen Y, et al. JAMA Netw Open. 2019 Sep 4;2(9):e1911895. doi: 10.1001/jamanetworkopen.2019.11895. JAMA Netw Open. 2019. PMID: 31539077 Free PMC article.
As important genes in the DNA damage response pathway, comutation in the tumor protein p53 (TP53) and ataxia-telangiectasia mutated (ATM) genes may be associated with genomic instability and hypermutation. ...Next-generation sequencing assays were performed on tumor sample …
As important genes in the DNA damage response pathway, comutation in the tumor protein p53 (TP53) and ataxia-telangiectasia mutated ( …
Responsiveness of different rating instruments in spinocerebellar ataxia patients.
Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Linnemann C, Schöls L, Timmann D, Filla A, Salvatore E, Infante J, Giunti P, Labrum R, Kremer B, van de Warrenburg BP, Baliko L, Melegh B, Depondt C, Schulz J, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Neurology. 2010 Feb 23;74(8):678-84. doi: 10.1212/WNL.0b013e3181d1a6c9. Neurology. 2010. PMID: 20177122
OBJECTIVE: To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA). METHODS: A subset of 171 patients from the EUROSCA natural history study cohort (43 SCA1, 61 SCA2, 37 SCA3, and 30 SCA6 …
OBJECTIVE: To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar …
Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?
Milne SC, Corben LA, Roberts M, Murphy A, Tai G, Georgiou-Karistianis N, Yiu EM, Delatycki MB. Milne SC, et al. Clin Rehabil. 2018 May;32(5):630-643. doi: 10.1177/0269215517736903. Epub 2017 Oct 26. Clin Rehabil. 2018. PMID: 29072092 Clinical Trial.
OBJECTIVE: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich's ataxia. DESIGN: Randomized, delayed-start control single-blind trial. ...SUBJECTS: Ambulant or non-ambulant individuals wit …
OBJECTIVE: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich's a …
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
BACKGROUND: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)(250) expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatabi …
BACKGROUND: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)(250 …
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3.
Chen X, Tang TS, Tu H, Nelson O, Pook M, Hammer R, Nukina N, Bezprozvanny I. Chen X, et al. J Neurosci. 2008 Nov 26;28(48):12713-24. doi: 10.1523/JNEUROSCI.3909-08.2008. J Neurosci. 2008. PMID: 19036964 Free PMC article.
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (ATX3; MJD1) protein. ...
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative d …
27 results