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Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».
Neurologia. 2017 Jul-Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13.
Neurologia. 2017.
PMID: 25593102
Free article.
Review.
English, Spanish.
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.
Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J.
Aguiar P, et al.
Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10.
Mov Disord. 2017.
PMID: 27862279
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Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review.
Wang Q, Zhang C, Liu S, Liu T, Ni R, Liu X, Zhong P, Wu Q, Xu T, Ke H, Tian W, Cao L.
Wang Q, et al.
Clin Neurol Neurosurg. 2022 Dec;223:107503. doi: 10.1016/j.clineuro.2022.107503. Epub 2022 Oct 30.
Clin Neurol Neurosurg. 2022.
PMID: 36368168
Review.
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Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36.
Ikeda Y, Ohta Y, Kurata T, Shiro Y, Takao Y, Abe K.
Ikeda Y, et al.
J Neurol Sci. 2013 Jan 15;324(1-2):109-12. doi: 10.1016/j.jns.2012.10.013. Epub 2012 Nov 7.
J Neurol Sci. 2013.
PMID: 23140984
OBJECTIVE: To investigate acoustic function of Asidan/spinocerebellar ataxia type 36 (SCA36) in which sensorineural hearing loss may be found as one of extracerebellar symptom that can be a distinguishable feature from other degenerative ataxias. ...
OBJECTIVE: To investigate acoustic function of Asidan/spinocerebellar ataxia type 36 (SCA36) in which sensorineu …
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An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).
Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ.
Maarouf H, et al.
BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4.
BMC Med Inform Decis Mak. 2017.
PMID: 29207981
Free PMC article.
For validation purposes, we used recorded SARA data from 28 anonymous subjects affected by Spinocerebellar Ataxia Type 36 (SCA36). When comparing the performance of our prototype with that of two independent experts, weighted kappa scores ranged from 0 …
For validation purposes, we used recorded SARA data from 28 anonymous subjects affected by Spinocerebellar Ataxia Type …
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