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

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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

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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	P Z
http://linked.open...avai/riv/aktivity	P(NR8351), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Druga, Rastislav
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	357289
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/08:4038
http://linked.open...riv/jazykVysledku	eng - angličtina
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	gene mutations protein neuropathology CLN 2 atypical course batten-disease cathepsin-d deficiency ceroid-lipofuscinosis storage pattern
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	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	Mutation analysis in inherited metabolic neurodegenerative diseases with childhood onset
http://linked.open...UplatneniVysledku	2008
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	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0001-6322
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

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