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[Autosomal recessive cerebellar ataxias].
Anheim M. Anheim M. Rev Neurol (Paris). 2011 May;167(5):372-84. doi: 10.1016/j.neurol.2010.07.021. Epub 2010 Nov 17. Rev Neurol (Paris). 2011. PMID: 21087783 Review. French.
STATE OF ART: Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2), ataxia with vitamin E defici …
STATE OF ART: Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the …
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Berciano J, García A, Infante J. Berciano J, et al. Handb Clin Neurol. 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. Handb Clin Neurol. 2013. PMID: 23931821 Review.
The main categories in this classification were as follows: (1) early onset cerebellar ataxia (EOCA) with age of onset below 25 years and usually with autosomal recessive (AR) transmission (this group encompasses FA and syndromes different from FA); (2
The main categories in this classification were as follows: (1) early onset cerebellar ataxia (EOCA) with age of onset below 25 years …
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Can J Neurol Sci. 2009. PMID: 19650351 Review.
The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. ...The autosomal recessive ataxias are separated into Fr …
The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Régal L, et al. Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035. Ann Neurol. 2010. PMID: 20695019 Review.
We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. ...Peroxisomal biogenesis disorders should be considered in the differential …
We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased …
Tyrosyl-DNA phosphodiesterase I resolves both naturally and chemically induced DNA adducts and its potential as a therapeutic target.
Comeaux EQ, van Waardenburg RC. Comeaux EQ, et al. Drug Metab Rev. 2014 Nov;46(4):494-507. doi: 10.3109/03602532.2014.971957. Epub 2014 Oct 20. Drug Metab Rev. 2014. PMID: 25327705 Review.
Tdp1's unique catalytic cycle allows for two different targeting strategies: (1) the intuitive inhibition of Tdp1 catalysis to prevent Tdp1-mediated repair of chemotherapeutically induced DNA adducts, thereby enhancing their toxicity and (2) stabilization of the Tdp1-DNA c …
Tdp1's unique catalytic cycle allows for two different targeting strategies: (1) the intuitive inhibition of Tdp1 catalysis to prevent Tdp1- …