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Page 1
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Trinh J, et al. Among authors: delcambre s. Brain. 2023 Jul 3;146(7):2753-2765. doi: 10.1093/brain/awac464. Brain. 2023. PMID: 36478228 Free PMC article.
Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.
Singh PK, van den Berg PR, Long MD, Vreugdenhil A, Grieshober L, Ochs-Balcom HM, Wang J, Delcambre S, Heikkinen S, Carlberg C, Campbell MJ, Sucheston-Campbell LE. Singh PK, et al. Among authors: delcambre s. BMC Genomics. 2017 Feb 6;18(1):132. doi: 10.1186/s12864-017-3481-4. BMC Genomics. 2017. PMID: 28166722 Free PMC article.
Mitochondrial Mechanisms of LRRK2 G2019S Penetrance.
Delcambre S, Ghelfi J, Ouzren N, Grandmougin L, Delbrouck C, Seibler P, Wasner K, Aasly JO, Klein C, Trinh J, Pereira SL, Grünewald A. Delcambre S, et al. Front Neurol. 2020 Aug 25;11:881. doi: 10.3389/fneur.2020.00881. eCollection 2020. Front Neurol. 2020. PMID: 32982917 Free PMC article.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R. Neumann MA, et al. Among authors: delcambre s. Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4. Sci Rep. 2020. PMID: 33028849 Free PMC article.
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism.
Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Borsche M, et al. Among authors: delcambre s. Brain. 2020 Oct 1;143(10):3041-3051. doi: 10.1093/brain/awaa246. Brain. 2020. PMID: 33029617 Free PMC article.
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
Dulovic-Mahlow M, König IR, Trinh J, Diaw SH, Urban PP, Knappe E, Kuhnke N, Ingwersen LC, Hinrichs F, Weber J, Kupnicka P, Balck A, Delcambre S, Vollbrandt T, Grünewald A, Klein C, Seibler P, Lohmann K. Dulovic-Mahlow M, et al. Among authors: delcambre s. Ann Neurol. 2021 Jan;89(1):158-164. doi: 10.1002/ana.25942. Epub 2020 Nov 4. Ann Neurol. 2021. PMID: 33094862
iPSC-Derived Microglia as a Model to Study Inflammation in Idiopathic Parkinson's Disease.
Badanjak K, Mulica P, Smajic S, Delcambre S, Tranchevent LC, Diederich N, Rauen T, Schwamborn JC, Glaab E, Cowley SA, Antony PMA, Pereira SL, Venegas C, Grünewald A. Badanjak K, et al. Among authors: delcambre s. Front Cell Dev Biol. 2021 Nov 5;9:740758. doi: 10.3389/fcell.2021.740758. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34805149 Free PMC article.
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state.
Smajić S, Prada-Medina CA, Landoulsi Z, Ghelfi J, Delcambre S, Dietrich C, Jarazo J, Henck J, Balachandran S, Pachchek S, Morris CM, Antony P, Timmermann B, Sauer S, Pereira SL, Schwamborn JC, May P, Grünewald A, Spielmann M. Smajić S, et al. Among authors: delcambre s. Brain. 2022 Apr 29;145(3):964-978. doi: 10.1093/brain/awab446. Brain. 2022. PMID: 34919646 Free PMC article.
24 results