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Quoted phrase not found in phrase index: "X-linked non progressive cerebellar ataxia"
Page 1
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ. Fan HC, et al. Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Cell Transplant. 2014. PMID: 24816443 Free article. Review.
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, …
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph dise …
Zebrafish Models of Autosomal Dominant Ataxias.
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L. Quelle-Regaldie A, et al. Cells. 2021 Feb 17;10(2):421. doi: 10.3390/cells10020421. Cells. 2021. PMID: 33671313 Free PMC article. Review.
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination. ...Here, we discuss the contributions of zebrafish models to the study of dominant ataxias def …
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterize …
The Expanding Clinical Universe of Polyglutamine Disease.
Huang S, Zhu S, Li XJ, Li S. Huang S, et al. Neuroscientist. 2019 Oct;25(5):512-520. doi: 10.1177/1073858418822993. Epub 2019 Jan 7. Neuroscientist. 2019. PMID: 30614396 Free PMC article. Review.
Indeed, polyQ-expanded proteins are ubiquitously expressed throughout the body and can affect the function of both the central nervous system (CNS) and peripheral tissues. The peripheral effects of polyQ disease proteins include muscle wasting and reduced muscle strength i …
Indeed, polyQ-expanded proteins are ubiquitously expressed throughout the body and can affect the function of both the central nervous syste …
Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A. Matilla-Dueñas A. Adv Exp Med Biol. 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. Adv Exp Med Biol. 2012. PMID: 22411243 Review.
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA subtype worldwide and other rare spinocerebellar ataxias including dentatorubral-pallidoluysian atrophy (DRPLA), the X-linked fragile X tremo …
The scope of this chapter is to provide an updated information on Machado-Joseph disease (MJD), the most frequent SCA subtype worldwi …
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.
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's ataxia, the most frequent form among the recessive ataxias, has been mapped to the long arm of chromosome 9 based on close linkage to th …
The patterns of inheritance observed in ataxias include autosomal dominant, autosomal recessive and X-linked. Friedreich's …
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
Hsu SL, Chen YH, Chou CT, Chou YT, Tsai YS, Hsiao CT, Liao YC, Lee YC. Hsu SL, et al. Parkinsonism Relat Disord. 2021 Nov;92:7-12. doi: 10.1016/j.parkreldis.2021.10.006. Epub 2021 Oct 9. Parkinsonism Relat Disord. 2021. PMID: 34649108
BACKGROUND: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. ...Most of them had additional non-motor symptoms, including autonomic dysfunction in nine patients, sensory deficits in seven, premature baldnes …
BACKGROUND: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. ...Most of t …
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A. Le Ber I, et al. Neurology. 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50. Neurology. 2006. PMID: 17130408
Dystonia became generalized in five. Cerebellar ataxia was limited to unsteadiness in most patients and progressed very slowly. ...Four families with two affected sibs support the hypothesis of an autosomal recessive disorder. However, X-linked …
Dystonia became generalized in five. Cerebellar ataxia was limited to unsteadiness in most patients and progressed very …
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
Coutinho P, Barros J, Zemmouri R, Guimarães J, Alves C, Chorão R, Lourenço E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D. Coutinho P, et al. Arch Neurol. 1999 Aug;56(8):943-9. doi: 10.1001/archneur.56.8.943. Arch Neurol. 1999. PMID: 10448799
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. ...Fiv …
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive …
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. Vicario M, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3303-3312. doi: 10.1016/j.bbadis.2017.08.006. Epub 2017 Aug 12. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28807751 Free article.
Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. ...The findings highlight the association of PMCA3 mutations to cerebellar ataxia and strengthen the …
Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias hav …