-
Something wrong with this record ?
Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance
J. Taborsky, R. Matej, H. Vlaskova, J. Keller, S. Johanidesova, R. Rusina
Language English Country Italy
Document type Letter
Grant support
VFN64165
Ministry of Health, Czech Republic
TN64190
Ministry of Health, Czech Republic
NV19-04-00090
Grant Agency of the Ministry of Health
Progress Q26/LF1
Charles University
Progres Q27/LF1
Charles University
Progres Q35/LF3
Charles University
NV18-01-00399
Grant Agency of the Ministry of Health
NLK
ProQuest Central
from 2000-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 2000-02-01 to 1 year ago
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Family Health Database (ProQuest)
from 2000-01-01 to 1 year ago
Psychology Database (ProQuest)
from 2000-01-01 to 1 year ago
- MeSH
- CADASIL * genetics MeSH
- Humans MeSH
- Mutation MeSH
- Autopsy MeSH
- Receptor, Notch3 genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22010898
- 003
- CZ-PrNML
- 005
- 20220506130253.0
- 007
- ta
- 008
- 220425s2022 it f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1007/s10072-022-05883-6 $2 doi
- 035 __
- $a (PubMed)35024983
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a it
- 100 1_
- $a Taborsky, Jiri $u Department of Neurology, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Vídeňská 800, 140 59, Prague 4, Czech Republic
- 245 10
- $a Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance / $c J. Taborsky, R. Matej, H. Vlaskova, J. Keller, S. Johanidesova, R. Rusina
- 650 _2
- $a pitva $7 D001344
- 650 12
- $a CADASIL $x genetika $7 D046589
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a receptor Notch3 $x genetika $7 D000071656
- 655 _2
- $a dopisy $7 D016422
- 700 1_
- $a Matej, Radoslav $u Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czech Republic $u Department of Pathology, First Faculty of Medicine, Charles University, and General University Hospital, Prague, Czech Republic
- 700 1_
- $a Vlaskova, Hana $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital, Prague, Czech Republic
- 700 1_
- $a Keller, Jiri $u Department of Neurology, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czech Republic $u Department of Radiology, Na Homolce Hospital, Prague, Czech Republic
- 700 1_
- $a Johanidesova, Silvie $u Department of Neurology, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Vídeňská 800, 140 59, Prague 4, Czech Republic
- 700 1_
- $a Rusina, Robert $u Department of Neurology, Third Faculty of Medicine, Charles University and Thomayer University Hospital, Vídeňská 800, 140 59, Prague 4, Czech Republic. robert.rusina@lf3.cuni.cz $1 https://orcid.org/0000000238645459 $7 mzk2007386024
- 773 0_
- $w MED00005781 $t Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology $x 1590-3478 $g Roč. 43, č. 3 (2022), s. 2115-2118
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/35024983 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220425 $b ABA008
- 991 __
- $a 20220506130245 $b ABA008
- 999 __
- $a ok $b bmc $g 1788829 $s 1162096
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2022 $b 43 $c 3 $d 2115-2118 $e 20220113 $i 1590-3478 $m Neurological sciences $n Neurol Sci $x MED00005781
- GRA __
- $a VFN64165 $p Ministry of Health, Czech Republic
- GRA __
- $a TN64190 $p Ministry of Health, Czech Republic
- GRA __
- $a NV19-04-00090 $p Grant Agency of the Ministry of Health
- GRA __
- $a Progress Q26/LF1 $p Charles University
- GRA __
- $a Progres Q27/LF1 $p Charles University
- GRA __
- $a Progres Q35/LF3 $p Charles University
- GRA __
- $a NV18-01-00399 $p Grant Agency of the Ministry of Health
- LZP __
- $a Pubmed-20220425