| Title |
Aprataxin mutations are a rare cause of early onset ataxia in Germany
|
|---|---|
| Published in |
Journal of Neurology, May 2004
|
| DOI | 10.1007/s00415-004-0374-7 |
| Pubmed ID | |
| Authors |
Matthias Habeck, Christine Zühlke, Karl H. P. Bentele, Stephan Unkelbach, Wolfram Kreß, Katrin Bürk, Eberhard Schwinger, Yorck Hellenbroich |
| Abstract |
Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Poland | 1 | 10% |
| Unknown | 9 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 40% |
| Professor | 2 | 20% |
| Other | 1 | 10% |
| Student > Ph. D. Student | 1 | 10% |
| Student > Postgraduate | 1 | 10% |
| Other | 0 | 0% |
| Unknown | 1 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 40% |
| Neuroscience | 3 | 30% |
| Arts and Humanities | 1 | 10% |
| Biochemistry, Genetics and Molecular Biology | 1 | 10% |
| Unknown | 1 | 10% |
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 26 June 2015.
All research outputs
#7,454,298
of 22,789,076 outputs
Outputs from Journal of Neurology
#1,774
of 4,475 outputs
Outputs of similar age
#18,889
of 58,255 outputs
Outputs of similar age from Journal of Neurology
#3
of 16 outputs
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