Zobrazeno 1 - 5
of 5
pro vyhledávání: '"L E, Warner"'
Publikováno v:
Musclenerve. 23(2)
X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of Charcot-Marie-Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested either a primary demyelinating or axonal polyneuropathy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::406828929bb90f4322e4d1f4ff532549
https://pubmed.ncbi.nlm.nih.gov/10639603
https://pubmed.ncbi.nlm.nih.gov/10639603
Publikováno v:
Human mutation. 10(1)
Dejerine-Sottas syndrome (DSS), a severe demyelinating peripheral neuropathy with onset in infancy, has been associated with mutations in either PMP22 or MPZ. Most cases of DSS are caused by a single heterozygous dominant point mutation. We identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2751464b2215f13e04e69b8b0de49088
https://pubmed.ncbi.nlm.nih.gov/9222756
https://pubmed.ncbi.nlm.nih.gov/9222756
Publikováno v:
Cold Spring Harbor symposia on quantitative biology. 61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::298663c0c9b93fa5f2dcc824249f79a1
https://pubmed.ncbi.nlm.nih.gov/9246492
https://pubmed.ncbi.nlm.nih.gov/9246492
Publikováno v:
Human mutation. 7(1)
The myelin protein zero gene (MPZ) maps to chromosome 1q22-q23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e1d2a3d6093ec33321186c7e15bd745a
https://pubmed.ncbi.nlm.nih.gov/8664899
https://pubmed.ncbi.nlm.nih.gov/8664899
Publikováno v:
Human mutation. 8(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95f1a527ccd57500711bf530c1c673ae
https://pubmed.ncbi.nlm.nih.gov/8956042
https://pubmed.ncbi.nlm.nih.gov/8956042