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Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia

  • Published:2017-02-11 Issue:3 Volume:76 Page:238-244
  • ISSN:0022-3069
  • Container-title:Journal of Neuropathology & Experimental Neurology
  • language:en
  • Short-container-title:

Author:

Mendoza-Santiesteban Carlos E.,Palma Jose-Alberto,Hedges Thomas R.,Laver Nora V.,Farhat Nada,Norcliffe-Kaufmann Lucy,Kaufmann Horacio

Funder

National Institutes of Health Massachusetts Lions Clubs

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Reference28 articles.

1. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia;Am J Hum Genet,2001

2. Familial dysautonomia: History, genotype, phenotype and translational research;Prog Neurobiol,2016

3. IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration;PloS One,2012

4. Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?;Brain,2011

5. Respiratory aspects of Riley-Day Syndrome: familial dysautonomia;Paed Resp Rev,2006
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