| Title |
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease
|
|---|---|
| Published in |
neurogenetics, October 2006
|
| DOI | 10.1007/s10048-006-0065-x |
| Pubmed ID | |
| Authors |
Leonardo Salviati, Eva Trevisson, Maria Cristina Baldoin, Irene Toldo, Stefano Sartori, Milena Calderone, Romano Tenconi, AnnaMaria Laverda |
| Abstract |
Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents. |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Sweden | 1 | 4% |
| Unknown | 24 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 20% |
| Professor | 3 | 12% |
| Other | 3 | 12% |
| Researcher | 3 | 12% |
| Student > Bachelor | 2 | 8% |
| Other | 7 | 28% |
| Unknown | 2 | 8% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 52% |
| Agricultural and Biological Sciences | 6 | 24% |
| Neuroscience | 2 | 8% |
| Psychology | 1 | 4% |
| Biochemistry, Genetics and Molecular Biology | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 2 | 8% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 14 July 2018.
All research outputs
#4,696,781
of 22,790,780 outputs
Outputs from neurogenetics
#61
of 376 outputs
Outputs of similar age
#12,047
of 66,416 outputs
Outputs of similar age from neurogenetics
#2
of 4 outputs
Altmetric has tracked 22,790,780 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 376 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 79% of its peers.
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