These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
131 related articles for article (PubMed ID: 34117373)
1. The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. Haryanyan G; Ozdemir O; Tutkavul K; Dervent A; Ayta S; Ozkara C; Salman B; Yucesan E; Kesim Y; Susgun S; Ozbek U; Baykan B; Ugur Iseri SA; Bebek N J Hum Genet; 2021 Dec; 66(12):1145-1151. PubMed ID: 34117373 [TBL] [Abstract][Full Text] [Related]
2. Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. Singh S; Satishchandra P; Shankar SK; Ganesh S Hum Mutat; 2008 Jun; 29(6):E1-12. PubMed ID: 18311786 [TBL] [Abstract][Full Text] [Related]
3. Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report. Casciato S; Gambardella S; Mascia A; Quarato PP; D'Aniello A; Ackurina Y; Albano V; Fornai F; Scala S; Di Gennaro G Int J Neurosci; 2017 Dec; 127(12):1150-1153. PubMed ID: 28556688 [TBL] [Abstract][Full Text] [Related]
4. Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. Tang X; Li X; Chen Y; Wu D Clin Neurol Neurosurg; 2022 Jul; 218():107255. PubMed ID: 35569391 [TBL] [Abstract][Full Text] [Related]
5. Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data. Pondrelli F; Minardi R; Muccioli L; Zenesini C; Vignatelli L; Licchetta L; Mostacci B; Tinuper P; Vander Kooi CW; Gentry MS; Bisulli F Orphanet J Rare Dis; 2023 Sep; 18(1):263. PubMed ID: 37658439 [TBL] [Abstract][Full Text] [Related]
6. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Singh S; Ganesh S Hum Mutat; 2009 May; 30(5):715-23. PubMed ID: 19267391 [TBL] [Abstract][Full Text] [Related]
7. Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. Kecmanović M; Jović N; Keckarević-Marković M; Keckarević D; Stevanović G; Ignjatović P; Romac S Clin Genet; 2016 Jan; 89(1):104-8. PubMed ID: 25683376 [TBL] [Abstract][Full Text] [Related]
9. Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene. Kecmanović M; Jović N; Cukić M; Keckarević-Marković M; Keckarević D; Stevanović G; Romac S J Neurol Sci; 2013 Feb; 325(1-2):170-3. PubMed ID: 23317923 [TBL] [Abstract][Full Text] [Related]
10. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Traoré M; Landouré G; Motley W; Sangaré M; Meilleur K; Coulibaly S; Traoré S; Niaré B; Mochel F; La Pean A; Vortmeyer A; Mani H; Fischbeck KH Neurogenetics; 2009 Oct; 10(4):319-23. PubMed ID: 19322595 [TBL] [Abstract][Full Text] [Related]
16. Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. Brackmann FA; Kiefer A; Agaimy A; Gencik M; Trollmann R Pediatr Neurol; 2011 Jun; 44(6):475-7. PubMed ID: 21555062 [TBL] [Abstract][Full Text] [Related]
17. Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. Ganesh S; Puri R; Singh S; Mittal S; Dubey D J Hum Genet; 2006; 51(1):1-8. PubMed ID: 16311711 [TBL] [Abstract][Full Text] [Related]
18. Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. Salar S; Yeni N; Gündüz A; Güler A; Gökçay A; Velioğlu S; Gündoğdu A; Hande Çağlayan S Epilepsy Res; 2012 Feb; 98(2-3):273-6. PubMed ID: 22047982 [TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic studies in patients with Lafora disease from Pakistan. Ahmad A; Dad R; Ullah MI; Baig TA; Ahmad IN; Nasir A; Hübner CA; Hassan MJ J Neurol Sci; 2017 Feb; 373():263-267. PubMed ID: 28131202 [TBL] [Abstract][Full Text] [Related]