| Title |
Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
|
|---|---|
| Published in |
The 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 31 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 23% |
| Student > Bachelor | 5 | 16% |
| Professor | 2 | 6% |
| Student > Postgraduate | 2 | 6% |
| Student > Master | 2 | 6% |
| Other | 4 | 13% |
| Unknown | 9 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 23% |
| Agricultural and Biological Sciences | 6 | 19% |
| Neuroscience | 6 | 19% |
| Nursing and Health Professions | 2 | 6% |
| Computer Science | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 9 | 29% |
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.
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#19,495,804
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Outputs from The Cerebellum
#659
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#152,569
of 202,120 outputs
Outputs of similar age from The Cerebellum
#13
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