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Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).
Neurology. 2012 Jul 24;79(4):333-41. doi: 10.1212/WNL.0b013e318260436f. Epub 2012 Jun 27.
Neurology. 2012.
PMID: 22744658
OBJECTIVE: To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. ...Cytoplasmic or intranuclear inclusio …
OBJECTIVE: To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (n …
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 …
For validation purposes, we used recorded SARA data from 28 anonymous subjects affected by Spinocerebellar Ataxia Type …
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