About: MFN2 mutations cause compensatory mitochondrial DNA proliferation

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About: MFN2 mutations cause compensatory mitochondrial DNA proliferation 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)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1093/brain/aws049
Description	MFN2 is the newest member of an expanding group of nuclear mitochondrial disorders characterized by disturbed mitochondrial DNA maintenance, a process which, increasingly, seems to be intrinsically related to the state of the mitochondrial network. MFN2 is the newest member of an expanding group of nuclear mitochondrial disorders characterized by disturbed mitochondrial DNA maintenance, a process which, increasingly, seems to be intrinsically related to the state of the mitochondrial network. (en)
Title	MFN2 mutations cause compensatory mitochondrial DNA proliferation MFN2 mutations cause compensatory mitochondrial DNA proliferation (en)
skos:prefLabel	MFN2 mutations cause compensatory mitochondrial DNA proliferation MFN2 mutations cause compensatory mitochondrial DNA proliferation (en)
skos:notation	RIV/00064203:_____/12:8188!RIV13-MZ0-00064203
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NS10554)
http://linked.open...iv/cisloPeriodika	Part 8
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Seeman, Pavel
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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	150274
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/12:8188
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	opa1 mutations; optic atrophy; mtdna; disease; replication; mitofusin-2; neuropathy; muscle; model (en)
http://linked.open.../riv/klicoveSlovo	replication disease model mitofusin-2 mtdna opa1 mutations optic atrophy muscle neuropathy
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[A5C1ADB4BA43]
http://linked.open...i/riv/nazevZdroje	Brain
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	Detection and analysis of mutations in mitofusin 2 gene (MFN2) as the known most common cause of axonal forms of hereditary neuropathies Charcot Marie Tooth (CMT 2).
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	135
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Rautenstrauss, B. Chinnery, PF Horvath, R. Pyle, A. Reilly, MM Sitarz, KS Stewart, J. D. Yu-Wai-Man, P.
http://linked.open...ain/vavai/riv/wos	000307170300003
issn	0006-8950
number of pages	3 (xsd:int)

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