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Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

Overview of attention for article published in Cerebellum, August 2013
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Title
Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
Published in
Cerebellum, August 2013
DOI 10.1007/s12311-013-0507-6
Pubmed ID
Authors

SH Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

Abstract

The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 6 26%
Student > Ph. D. Student 6 26%
Student > Bachelor 5 22%
Professor 2 9%
Other 1 4%
Other 3 13%
Readers by discipline Count As %
Unspecified 6 26%
Biochemistry, Genetics and Molecular Biology 6 26%
Agricultural and Biological Sciences 6 26%
Nursing and Health Professions 2 9%
Neuroscience 2 9%
Other 1 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 August 2013.
All research outputs
#9,876,273
of 12,372,368 outputs
Outputs from Cerebellum
#407
of 622 outputs
Outputs of similar age
#109,500
of 161,311 outputs
Outputs of similar age from Cerebellum
#25
of 35 outputs
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