Sökning: WFRF:(Jebril William) > Darier disease is a...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 04844naa a2200397 4500 | |
001 | oai:DiVA.org:oru-112915 | |
003 | SwePub | |
008 | 240408s2024 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:238531956 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-1129152 URI |
024 | 7 | a https://doi.org/10.1038/s41598-024-57779-42 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:2385319562 URI |
040 | a (SwePub)orud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Curman, Philipu Karolinska Institutet,Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut |
245 | 1 0 | a Darier disease is associated with neurodegenerative disorders and epilepsy |
264 | 1 | b Nature Publishing Group,c 2024 |
338 | a print2 rdacarrier | |
500 | a Open access funding provided by Karolinska Institute. This article was funded by Hudfonden, Swedish Science Council, Svenska Sällskapet för Medicinsk Forskning, Leo foundation, ALF medicin Stockholm, Jeanssons stiftelse, Marcus och Amalia Wallenbergs minnesfond and Tore Nilssons Stiftelse. | |
520 | a Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Swedish national registers in a period spanning between 1977 and 2013, 935 individuals with DD were compared with up to 100 comparison individuals each, randomly selected from the general population based on birth year, sex, and county of residence at the time of the first diagnosis of DD. Individuals with DD had increased risks of being diagnosed with Parkinson's disease (RR 2.1, CI 1.1; 4.4), vascular dementia (RR 2.1, CI 1.0; 4.2), and epilepsy, (RR 2.5, CI 1.8; 3.5). No association of DD with other dementias were detected. This study demonstrates a new association between DD and neurodegenerative disorders and epilepsy, underlining the need for increased awareness, interdisciplinary collaboration, and further research to understand the underlying mechanisms. Early identification and management of neurological complications in DD patients could improve treatment strategies and patient outcomes. The findings also highlight the role of SERCA2 in the pathophysiology of neurological disorders, offering new targets for future research and potentials for novel treatments. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
700 | 1 | a Jebril, Williamu Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden4 aut |
700 | 1 | a Larsson, Henrik,d 1975-u Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)hiln |
700 | 1 | a Bachar-Wikstrom, Ettyu Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden4 aut |
700 | 1 | a Martin, Cederlöf,d 1980-u Örebro universitet,Institutionen för medicinska vetenskaper,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)mncf |
700 | 1 | a Wikstrom, Jakob D.u Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden4 aut |
710 | 2 | a Karolinska Institutetb Dermatology and Venereology Division, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Dermato-Venereology Clinic, Karolinska University Hospital, Eugeniavägen 3, 17164, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden4 org |
773 | 0 | t Scientific Reportsd : Nature Publishing Groupg 14:1q 14:1x 2045-2322 |
856 | 4 | u https://doi.org/10.1038/s41598-024-57779-4y Fulltext |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-112915 |
856 | 4 8 | u https://doi.org/10.1038/s41598-024-57779-4 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:238531956 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy