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Mendeley readers
| Title |
Giant axonal neuropathy diagnosed on skin biopsy
|
|---|---|
| Published in |
Journal of Clinical Neuroscience, August 2013
|
| DOI | 10.1016/j.jocn.2013.06.017 |
| Pubmed ID | |
| Authors |
Shekeeb S. Mohammad, Chiyan Lau, Christopher Burke, Naomi McCallum, Thomas Robertson |
| Abstract |
Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to guide further genetic testing, which may or may not be readily available. We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing. |
Mendeley readers
The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Lecturer > Senior Lecturer | 1 | 13% |
| Student > Bachelor | 1 | 13% |
| Professor | 1 | 13% |
| Student > Ph. D. Student | 1 | 13% |
| Student > Master | 1 | 13% |
| Other | 2 | 25% |
| Unknown | 1 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 50% |
| Biochemistry, Genetics and Molecular Biology | 1 | 13% |
| Neuroscience | 1 | 13% |
| Business, Management and Accounting | 1 | 13% |
| Unknown | 1 | 13% |