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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2009 2
2010 6
2011 2
2012 4
2013 1
2014 4
2015 4
2016 3
2017 2
2018 3
2019 3
2020 9
2021 5
2022 9
2023 6
2024 4

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53 results

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Page 1
On the way to early diagnosis.
Magner M. Magner M. Eur J Paediatr Neurol. 2024 Jan;48:A4. doi: 10.1016/j.ejpn.2024.02.012. Epub 2024 Feb 22. Eur J Paediatr Neurol. 2024. PMID: 38403569 No abstract available.
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Májovská J, Nestrašil I, Ahmed A, Bondy MT, Klempíř J, Jahnová H, Schneider SA, Horáková D, Krásenský J, Ješina P, Vaneckova M, Nascene DR, Whitley CB, Jarnes JR, Magner M, Dušek P. Májovská J, et al. Among authors: magner m. J Inherit Metab Dis. 2024 Mar;47(2):327-339. doi: 10.1002/jimd.12700. Epub 2023 Dec 19. J Inherit Metab Dis. 2024. PMID: 38112342
B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C).
Klocperk A, Bloomfield M, Parackova Z, Aillot L, Fremuth J, Sasek L, David J, Fencl F, Skotnicova A, Rejlova K, Magner M, Hrusak O, Sediva A. Klocperk A, et al. Among authors: magner m. Mol Cell Pediatr. 2023 Oct 28;10(1):15. doi: 10.1186/s40348-023-00169-z. Mol Cell Pediatr. 2023. PMID: 37891416 Free PMC article.
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V, Poupětová H, Řeboun M, Dvořáková L, Reichmannová S, Švandová I, Murgašová L, Kasper DC, Magner M. Malinová V, et al. Among authors: magner m. Int J Mol Sci. 2023 Sep 22;24(19):14440. doi: 10.3390/ijms241914440. Int J Mol Sci. 2023. PMID: 37833892 Free PMC article.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: magner m. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Cediel ML, Stawarski M, Blanc X, Nosková L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE. Cediel ML, et al. Among authors: magner m. Am J Hum Genet. 2022 Oct 6;109(10):1885-1893. doi: 10.1016/j.ajhg.2022.08.010. Epub 2022 Sep 13. Am J Hum Genet. 2022. PMID: 36103875 Free PMC article.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Mitchell JJ, et al. Among authors: magner m. Mol Genet Metab. 2022 Sep-Oct;137(1-2):164-172. doi: 10.1016/j.ymgme.2022.08.007. Epub 2022 Aug 30. Mol Genet Metab. 2022. PMID: 36087504 Free article.
53 results