| Title |
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
|
|---|---|
| Published in |
neurogenetics, March 2009
|
| DOI | 10.1007/s10048-009-0185-1 |
| Pubmed ID | |
| Authors |
M. A. Aldahmesh, Z. N. Al-Hassnan, M. Aldosari, F. S. Alkuraya |
| Abstract |
Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revisited with the quickly accumulating knowledge of the various genetic defects that underlie this group of genetically heterogeneous disorders. We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). We use clinical data from our patients and the few others that have previously been reported to delineate the phenotype associated with mutations in this gene. We conclude that the phenotype is fairly consistent, which is a helpful guide to clinicians as they decide on the most cost-effective molecular testing strategies for NCLs. |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 32 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 22% |
| Student > Master | 6 | 19% |
| Student > Ph. D. Student | 5 | 16% |
| Student > Bachelor | 3 | 9% |
| Student > Postgraduate | 3 | 9% |
| Other | 4 | 13% |
| Unknown | 4 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 10 | 31% |
| Medicine and Dentistry | 7 | 22% |
| Biochemistry, Genetics and Molecular Biology | 5 | 16% |
| Neuroscience | 4 | 13% |
| Social Sciences | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 4 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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
#7,454,066
of 22,788,370 outputs
Outputs from neurogenetics
#116
of 376 outputs
Outputs of similar age
#33,014
of 94,288 outputs
Outputs of similar age from neurogenetics
#3
of 6 outputs
Altmetric has tracked 22,788,370 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 376 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 40th percentile – i.e., 40% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 94,288 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.