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

Year Number of Results
2005 1
2007 2
2008 2
2009 3
2010 3
2011 1
2015 1
2016 5
2017 6
2018 2
2019 2
2020 4
2021 4
2022 2
2023 4
2024 0

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33 results

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Page 1
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.
Iwan K, Clayton R, Mills P, Csanyi B, Gissen P, Mole SE, Palmer DN, Mills K, Heywood WE. Iwan K, et al. Among authors: csanyi b. iScience. 2020 Dec 31;24(2):102020. doi: 10.1016/j.isci.2020.102020. eCollection 2021 Feb 19. iScience. 2020. PMID: 33532713 Free PMC article.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Ng J, Cortès-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, García-Cazorla À, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E, Kurian MA. Ng J, et al. Among authors: csanyi b. Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30. Mov Disord. 2020. PMID: 32472658 Free PMC article.
Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
Nagy D, Farkas K, Armengol L, Segura M, Esi Zodanu GK, Csányi B, Zimmermann A, Vámos B, Széll M. Nagy D, et al. Among authors: csanyi b. Eur J Med Genet. 2020 Apr;63(4):103800. doi: 10.1016/j.ejmg.2019.103800. Epub 2019 Oct 31. Eur J Med Genet. 2020. PMID: 31678216 Review. No abstract available.
Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features.
Pozsonyi Z, Peskó G, Takács H, Csuka D, Nagy V, Szilágyi Á, Hategan L, Muk B, Csányi B, Nyolczas N, Dézsi L, Molnár JM, Csillik A, Révész K, Iványi B, Szabó F, Birtalan K, Masszi T, Arányi Z, Sepp R. Pozsonyi Z, et al. Among authors: csanyi b. Genes (Basel). 2021 Jul 28;12(8):1152. doi: 10.3390/genes12081152. Genes (Basel). 2021. PMID: 34440326 Free PMC article.
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschütter A; CLN2 Study Group. Schulz A, et al. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24. N Engl J Med. 2018. PMID: 29688815 Free article. Clinical Trial.
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R, Hategan L, Csányi B, Borbás J, Tringer A, Pálinkás ED, Nagy V, Takács H, Latinovics D, Nyolczas N, Pálinkás A, Faludi R, Rábai M, Szabó GT, Czuriga D, Balogh L, Halmosi R, Borbély A, Habon T, Hegedűs Z, Nagy I. Sepp R, et al. Among authors: csanyi b. Diagnostics (Basel). 2022 May 3;12(5):1132. doi: 10.3390/diagnostics12051132. Diagnostics (Basel). 2022. PMID: 35626289 Free PMC article.
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Borbás J, Vámos M, Hategan L, Hanák L, Farkas N, Szakács Z, Csupor D, Tél B, Kupó P, Csányi B, Nagy V, Komócsi A, Habon T, Hegyi P, Sepp R. Borbás J, et al. Among authors: csanyi b. Front Cardiovasc Med. 2022 Nov 29;9:1021009. doi: 10.3389/fcvm.2022.1021009. eCollection 2022. Front Cardiovasc Med. 2022. PMID: 36523353 Free PMC article.
33 results