Title: | Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) |
Journal : | Brain, 129, 2 |
Authors: | Houlden H ; King R ; Blake J ; Groves M ; Love S ; Woodward C ; Hammans SR ; Nicoll J ; Lennox G ; O'Donovan DG ; Gabriel C ; Reilly MM |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 411-425 |
Languages: | English |
Keywords : | acyltransferases ; age ; autopsy ; body temperature ; chromosome 9 ; clinical presentation ; CMT1A ; CMT2A1 ; comparative studies ; demyelinating diseases ; electrodiagnosis ; family trees ; founder effect ; genetic mutations ; histochemistry ; nerve biopsies ; pain ; penetrance ; Thévenard disease |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16364956&query_hl=7&itool=pubmed_docsum |