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Results by year

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

Year Number of Results
1992 1
1993 1
1994 1
1995 1
1996 1
2000 2
2002 2
2003 3
2004 5
2005 3
2006 4
2007 4
2008 3
2009 1
2010 14
2011 4
2012 7
2013 12
2014 23
2015 15
2016 7
2017 13
2018 10
2019 8
2020 17
2021 18
2022 20
2023 30

Text availability

Article attribute

Article type

Publication date

PubMed for id: 436642

205 results

Results by year

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Page 1
H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A. Krajka V, et al. Sci Adv. 2022 Mar 11;8(10):eabj9229. doi: 10.1126/sciadv.abj9229. Epub 2022 Mar 11. Sci Adv. 2022. PMID: 35275727 Free PMC article.
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience.
Ivanov I, Pacheva I, Yordanova R, Sotkova I, Galabova F, Gaberova K, Panova M, Gheneva I, Tsvetanova T, Noneva K, Dimitrova D, Markov S, Sapundzhiev N, Bichev S, Savov A. Ivanov I, et al. CNS Neurol Disord Drug Targets. 2023;22(2):207-214. doi: 10.2174/1871527321666220221100704. CNS Neurol Disord Drug Targets. 2023. PMID: 35189806
The Habc domain of syntaxin 3 is a ubiquitin binding domain.
Giovannone AJ, Reales E, Bhattaram P, Nackeeran S, Monahan AB, Syed R, Weimbs T. Giovannone AJ, et al. Sci Rep. 2020 Dec 7;10(1):21350. doi: 10.1038/s41598-020-78412-0. Sci Rep. 2020. PMID: 33288783 Free PMC article.
MRI Features in a Rat Model of H-ABC Tubulinopathy.
Garduno-Robles A, Alata M, Piazza V, Cortes C, Eguibar JR, Pantano S, Hernandez VH. Garduno-Robles A, et al. Front Neurosci. 2020 Jun 3;14:555. doi: 10.3389/fnins.2020.00555. eCollection 2020. Front Neurosci. 2020. PMID: 32581692 Free PMC article.
205 results