| Title |
2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family
|
|---|---|
| Published in |
Journal of Molecular Neuroscience, September 2009
|
| DOI | 10.1007/s12031-009-9287-3 |
| Pubmed ID | |
| Authors |
Claudia Béu Volpato, Alessandro De Grandi, Ebba Buffone, Maurizio Facheris, Uwe Gebert, Günther Schifferle, Rudolf Schönhuber, Andrew Hicks, Peter P. Pramstaller |
| Abstract |
Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37. Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users. |
Mendeley readers
The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 6% |
| Denmark | 1 | 6% |
| Unknown | 14 | 88% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 31% |
| Student > Ph. D. Student | 3 | 19% |
| Researcher | 2 | 13% |
| Professor > Associate Professor | 2 | 13% |
| Professor | 1 | 6% |
| Other | 2 | 13% |
| Unknown | 1 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 50% |
| Biochemistry, Genetics and Molecular Biology | 3 | 19% |
| Psychology | 1 | 6% |
| Agricultural and Biological Sciences | 1 | 6% |
| Unknown | 3 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 25 February 2019.
All research outputs
#3,415,054
of 25,373,627 outputs
Outputs from Journal of Molecular Neuroscience
#102
of 1,643 outputs
Outputs of similar age
#11,838
of 105,680 outputs
Outputs of similar age from Journal of Molecular Neuroscience
#2
of 14 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,643 research outputs from this source. They receive a mean Attention Score of 3.9. This one has done particularly well, scoring higher than 92% of its peers.
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We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.