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

Year Number of Results
1992 1
1993 1
1994 2
1995 2
1996 1
1997 2
1998 1
1999 2
2001 1
2002 2
2003 7
2004 5
2005 1
2006 7
2007 2
2008 3
2009 6
2010 12
2011 8
2012 10
2013 7
2014 11
2015 13
2016 10
2017 10
2018 5
2019 7
2020 4
2021 5
2022 3
2023 2
2024 2

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140 results

Results by year

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Page 1
Axonal neuropathy with neuromyotonia: there is a HINT.
Peeters K, Chamova T, Tournev I, Jordanova A. Peeters K, et al. Among authors: jordanova a. Brain. 2017 Apr 1;140(4):868-877. doi: 10.1093/brain/aww301. Brain. 2017. PMID: 28007994 Free PMC article. Review.
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, Yang XL, Wirth B, Rodal AA, Timmerman V, Goode BL, Godenschwege TA, Jordanova A. Ermanoska B, et al. Among authors: jordanova a. Nat Commun. 2023 Mar 8;14(1):999. doi: 10.1038/s41467-023-35908-3. Nat Commun. 2023. PMID: 36890170 Free PMC article.
A novel AARS mutation in a family with dominant myeloneuropathy.
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Motley WW, et al. Among authors: jordanova a. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22. Neurology. 2015. PMID: 25904691 Free PMC article.
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Among authors: jordanova a. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Bervoets S, Wei N, Erfurth ML, Yusein-Myashkova S, Ermanoska B, Mateiu L, Asselbergh B, Blocquel D, Kakad P, Penserga T, Thomas FP, Guergueltcheva V, Tournev I, Godenschwege T, Jordanova A, Yang XL. Bervoets S, et al. Among authors: jordanova a. Nat Commun. 2019 Nov 6;10(1):5045. doi: 10.1038/s41467-019-12909-9. Nat Commun. 2019. PMID: 31695036 Free PMC article.
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V. Rossi D, et al. Among authors: jordanova a. PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017. PLoS One. 2017. PMID: 29073160 Free PMC article.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: jordanova a. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. Malcorps M, et al. Among authors: jordanova a. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. Orphanet J Rare Dis. 2022. PMID: 36242072 Free PMC article.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: jordanova a. Genet Med. 2024 Mar 6;26(6):101117. doi: 10.1016/j.gim.2024.101117. Online ahead of print. Genet Med. 2024. PMID: 38459834 Free article.
140 results