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2009 2
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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 autosomal recessive (AR) HCA (AR-HCA …
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 …
Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features. These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguena …
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features …
Hereditary ataxias: overview.
Jayadev S, Bird TD. Jayadev S, et al. Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Genet Med. 2013. PMID: 23538602 Free article. Review.
There are more than 35 autosomal dominant types frequently termed spinocerebellar ataxia and typically having adult onset. The most common subtypes are spinocerebellar ataxia 1, 2, 3, 6, and 7, all of which are nucleotide repeat expansion disorders. Autosomal recessive ata …
There are more than 35 autosomal dominant types frequently termed spinocerebellar ataxia and typically having adult onset. The most common s …
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O. Tada M, et al. Adv Exp Med Biol. 2010;685:21-33. doi: 10.1007/978-1-4419-6448-9_3. Adv Exp Med Biol. 2010. PMID: 20687492 Review.
These results indicate an important role ofAPTX in SSBR. SSBs are usually accompanied by modified or damaged 5'- and 3'-ends at the break site. Because these modified or damaged ends are not suitable for DNA ligation, they need to be restored to conventional ends prior to …
These results indicate an important role ofAPTX in SSBR. SSBs are usually accompanied by modified or damaged 5'- and 3'-ends at the b …
Hit proteins, mitochondria and cancer.
Martin J, St-Pierre MV, Dufour JF. Martin J, et al. Biochim Biophys Acta. 2011 Jun;1807(6):626-32. doi: 10.1016/j.bbabio.2011.02.001. Epub 2011 Mar 1. Biochim Biophys Acta. 2011. PMID: 21316334 Free article. Review.
Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1. The …
Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, …
Alpha-fetoprotein, a fascinating protein and biomarker in neurology.
Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA. Schieving JH, et al. Eur J Paediatr Neurol. 2014 May;18(3):243-8. doi: 10.1016/j.ejpn.2013.09.003. Epub 2013 Sep 29. Eur J Paediatr Neurol. 2014. PMID: 24120489 Review.
[Molecular mechanism for spinocerebellar ataxias].
Onodera O. Onodera O. Rinsho Shinkeigaku. 2009 Nov;49(11):750-2. doi: 10.5692/clinicalneurol.49.750. Rinsho Shinkeigaku. 2009. PMID: 20030201 Review. Japanese.
About the quality control of nucleotide in neuron, DNA single-strand breaks (SSBs) were continually produced by endogenous reactive oxygen species or exogenous genotoxic agents. These damaged ends posses damaged 3'-ends including 3'-phosphate, 3'-phosphoglyco …
About the quality control of nucleotide in neuron, DNA single-strand breaks (SSBs) were continually produced by endogenous reactive oxygen s …
[Molecular mechanism for spinocerebellar ataxias].
Onodera O. Onodera O. Rinsho Shinkeigaku. 2009 Jan;49(1):1-8. doi: 10.5692/clinicalneurol.49.1. Rinsho Shinkeigaku. 2009. PMID: 19227889 Review. Japanese.
About the quality control of nucleotide in neuron, DNA single-strand breaks were continually produced by endogenous reactive oxygen species or exogenous genotoxic agents. These damaged ends posses damaged 3'-ends including 3'-phosphate, 3'-phosphoglycolate, o …
About the quality control of nucleotide in neuron, DNA single-strand breaks were continually produced by endogenous reactive oxygen species …