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MultiSCRIPT-Cycle 1-a pragmatic trial embedded within the Swiss Multiple Sclerosis Cohort (SMSC) on neurofilament light chain monitoring to inform personalized treatment decisions in multiple sclerosis: a study protocol for a randomized clinical trial.
Janiaud P, Zecca C, Salmen A, Benkert P, Schädelin S, Orleth A, Demuth L, Maceski AM, Granziera C, Oechtering J, Leppert D, Derfuss T, Achtnichts L, Findling O, Roth P, Lalive P, Uginet M, Müller S, Pot C, Hoepner R, Disanto G, Gobbi C, Rooshenas L, Schwenkglenks M, Lambiris MJ, Kappos L, Kuhle J, Yaldizli Ö, Hemkens LG. Janiaud P, et al. Among authors: demuth l. Trials. 2024 Sep 11;25(1):607. doi: 10.1186/s13063-024-08454-6. Trials. 2024. PMID: 39261900 Free PMC article.
Neurofilament Light Chain Elevation and Disability Progression in Multiple Sclerosis.
Abdelhak A, Benkert P, Schaedelin S, Boscardin WJ, Cordano C, Oechtering J, Ananth K, Granziera C, Melie-Garcia L, Montes SC, Beaudry-Richard A, Achtnichts L, Oertel FC, Lalive PH, Leppert D, Müller S, Henry RG, Pot C, Matthias A, Salmen A, Oksenberg JR, Disanto G, Zecca C, D'Souza M, Du Pasquier R, Bridel C, Gobbi C, Kappos L, Hauser SL, Cree BAC, Kuhle J, Green AJ; UCSF, MS EPIC, and the SMSC Study Teams. Abdelhak A, et al. JAMA Neurol. 2023 Dec 1;80(12):1317-1325. doi: 10.1001/jamaneurol.2023.3997. JAMA Neurol. 2023. PMID: 37930670 Free PMC article.
Aberrant Complement Activation Is Associated With Structural Brain Damage in Multiple Sclerosis.
Oechtering J, Schaedelin SA, Stein K, Maleska Maceski A, Melie-Garcia L, Benkert P, Cagol A, Leber S, Galbusera R, Ruberte E, Hu W, Qureshi F, Orleth A, Demuth L, Willemse E, Heijnen I, Regeniter A, Derfuss TJ, Fischer-Barnicol B, Achtnichts L, Mueller S, Hoepner R, Lalive PH, Bridel C, D'Souza M, Pot C, Du Pasquier RA, Gobbi C, Zecca C, Wiendl H, Lieb JM, Lamers C, Kappos L, Trendelenburg M, Leppert D, Granziera C, Kuhle J, Lünemann JD; and the Swiss MS Cohort Study. Oechtering J, et al. Among authors: demuth l. Neurol Neuroimmunol Neuroinflamm. 2025 Mar;12(2):e200361. doi: 10.1212/NXI.0000000000200361. Epub 2025 Jan 3. Neurol Neuroimmunol Neuroinflamm. 2025. PMID: 39752618 Free PMC article.
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, Demuth L, Cordelli DM, Biasucci G, Frattini D, Fusco C. Rizzi S, et al. Among authors: demuth l. Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828. Genes (Basel). 2023. PMID: 37761968 Free PMC article.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: demuth l. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A. Cozma C, et al. Among authors: demuth l. Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5. Orphanet J Rare Dis. 2019. PMID: 31455396 Free PMC article.
18 results