Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • K Koehler - , Department of Paediatrics (Author)
  • Knut Brockmann - , University of Göttingen (Author)
  • Manuela Krumbholz - , TUD Dresden University of Technology, Friedrich-Alexander University Erlangen-Nürnberg (Author)
  • B Kind - , Department of Paediatrics (Author)
  • Carsten Bönnemann - , Friedrich-Alexander University Erlangen-Nürnberg (Author)
  • Jutta Gärtner - , University of Göttingen (Author)
  • A Huebner - , Department of Paediatrics (Author)

Details

Original languageEnglish
Pages (from-to)1499-1506
Number of pages8
JournalEuropean Journal of Human Genetics
Volume16
Publication statusPublished - Jul 2008
Peer-reviewedYes

External IDs

Scopus 56749097504
ORCID /0000-0002-9407-1410/work/90094098
PubMed 18628786

Keywords