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Page 1
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
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.
16 results