About: Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency     Goto   Sponge   NotDistinct   Permalink

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Description
  • Toto je prvn neuropatologický report o mužském pacientovi (1960-1975) s velmi zřídkavou a atypickou formou CLN2 (cs)
  • This is the first neuropathology report of a male patient (born 1960-died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far.
  • This is the first neuropathology report of a male patient (born 1960-died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far. (en)
Title
  • Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency
  • Atypická CLN2 s pozdním propuknutím a prodlouženým průběhem: neuropatologická studie ukazuje rozdílnou senzitivitu neuronální subpopulace na TPP1 nedostatečnost (cs)
  • Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency (en)
skos:prefLabel
  • Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency
  • Atypická CLN2 s pozdním propuknutím a prodlouženým průběhem: neuropatologická studie ukazuje rozdílnou senzitivitu neuronální subpopulace na TPP1 nedostatečnost (cs)
  • Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency (en)
skos:notation
  • RIV/00216208:11130/08:4038!RIV09-MZ0-11130___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR8351), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika
  • 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
  • 357289
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11130/08:4038
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • CLN 2; atypical course; neuropathology; storage pattern; cathepsin-d deficiency; ceroid-lipofuscinosis; batten-disease; mutations; protein; gene (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV
  • [30238D7678F5]
http://linked.open...i/riv/nazevZdroje
  • Acta Neuropathologica
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 116
http://linked.open...iv/tvurceVysledku
  • Druga, Rastislav
http://linked.open...ain/vavai/riv/wos
  • 000257544200012
http://linked.open...n/vavai/riv/zamer
issn
  • 0001-6322
number of pages
http://localhost/t...ganizacniJednotka
  • 11130
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