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

Year Number of Results
1969 1
1975 1
1980 1
1984 1
1986 1
1991 1
1993 1
1994 1
1995 1
1996 1
1997 2
1998 2
1999 3
2000 4
2001 2
2002 4
2003 4
2004 10
2005 9
2006 10
2007 9
2008 5
2009 5
2010 8
2011 3
2012 7
2013 5
2014 7
2015 6
2016 2
2017 2
2018 3
2019 3
2020 3
2021 3
2023 1
2024 0

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119 results

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Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. medRxiv [Preprint]. 2023 Jan 31:2023.01.30.23285099. doi: 10.1101/2023.01.30.23285099. medRxiv. 2023. Update in: HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. PMID: 36778397 Free PMC article. Updated. Preprint.
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.
Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Wsa Ochieng L, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince PG, Attems J, Burn J, Chinnery PF, Morris CM. Kurzawa-Akanbi M, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(1):26-42. doi: 10.1111/nan.12634. Epub 2020 Jun 19. Neuropathol Appl Neurobiol. 2021. PMID: 32464705
119 results