About: Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero     Goto   Sponge   NotDistinct   Permalink

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Description
  • The mutation Glu97Val of MPZ gene result in a phenotype with progressive hearing loss, abnormal pupillary reaction(adie's) and no pes cavus deformity.The follow up conduction studies showed despite late onset of clinical symptoms rather fast p
  • The mutation Glu97Val of MPZ gene result in a phenotype with progressive hearing loss, abnormal pupillary reaction(adie's) and no pes cavus deformity.The follow up conduction studies showed despite late onset of clinical symptoms rather fast p (en)
Title
  • Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero
  • Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero (en)
skos:prefLabel
  • Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero
  • Longitudinal electrophysiological study in the patient with dominant deafness and late onset axonal CMT caused by Glu97Val mutation in the myelin protein zero (en)
skos:notation
  • RIV/00216208:11130/02:00000010!RIV/2003/MSM/111303/N
http://linked.open.../vavai/riv/strany
  • 40;41
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM 111300003)
http://linked.open...iv/cisloPeriodika
  • Suppl. 1
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 652070
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/02:00000010
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Longitudinal;electrophysiological;study;patient;dominant;deafness;onset;axonal;caused;Glu97Val;mutation;myelin;protein;zero (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [19EBDAC62D22]
http://linked.open...i/riv/nazevZdroje
  • Journal of the Neurological Sciences
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...ocetUcastnikuAkce
http://linked.open...nichUcastnikuAkce
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 199
http://linked.open...iv/tvurceVysledku
  • Seeman, Pavel
  • Bojar, Martin
  • Čtvrtečková, Markéta
http://linked.open...n/vavai/riv/zamer
issn
  • 0022-510X
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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