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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 30947044)

  • 1. Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.
    Tee SK; Ong TL; Aris A; See SML; Leong HY; Khalid MKNM; Shanthi V
    Seizure; 2019 Apr; 67():78-81. PubMed ID: 30947044
    [No Abstract]   [Full Text] [Related]  

  • 2. Identification of new and common mutations in the EPM2A gene in Lafora disease.
    Minassian BA; Ianzano L; Delgado-Escueta AV; Scherer SW
    Neurology; 2000 Jan; 54(2):488-90. PubMed ID: 10668720
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Three patients with lafora disease: different clinical presentations and a novel mutation.
    Poyrazoğlu HG; Karaca E; Per H; Gümüs H; Onay H; Canpolat M; Canöz Ö; Ozkınay F; Kumandas S
    J Child Neurol; 2015 May; 30(6):777-81. PubMed ID: 25015673
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel exon 3 mutation in a Tunisian patient with Lafora's disease.
    Khiari HM; Lesca G; Malafosse A; Mrabet A
    J Neurol Sci; 2011 May; 304(1-2):136-7. PubMed ID: 21371719
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy.
    Chatzistefanidis D; Giaka K; Georgiou I; Kyritsis AP; Markoula S
    Seizure; 2013 May; 22(4):315-7. PubMed ID: 23313408
    [No Abstract]   [Full Text] [Related]  

  • 8. EPM2A in-frame deletion slows neurological decline in Lafora Disease.
    Lomax LB; Verhalen B; Minassian BA
    Seizure; 2021 Oct; 91():97-98. PubMed ID: 34147889
    [No Abstract]   [Full Text] [Related]  

  • 9. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
    Ganesh S; Agarwala KL; Ueda K; Akagi T; Shoda K; Usui T; Hashikawa T; Osada H; Delgado-Escueta AV; Yamakawa K
    Hum Mol Genet; 2000 Sep; 9(15):2251-61. PubMed ID: 11001928
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Myoclonic epilepsy of Lafora: a case report].
    Rudenskaia GE; Zakharova EIu; Karpin SL; Uchaev DA
    Zh Nevrol Psikhiatr Im S S Korsakova; 2010; 110(3 Suppl 2):11-6. PubMed ID: 20873469
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family.
    Aslam Z; Lee E; Badshah M; Naeem M; Kang C
    Seizure; 2017 Oct; 51():200-203. PubMed ID: 28934672
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.
    Spuch C; Ortolano S; Navarro C
    Recent Pat Endocr Metab Immune Drug Discov; 2012 May; 6(2):99-107. PubMed ID: 22369717
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
    Lesca G; Boutry-Kryza N; de Toffol B; Milh M; Steschenko D; Lemesle-Martin M; Maillard L; Foletti G; Rudolf G; Nielsen JE; á Rogvi-Hansen B; Erdal J; Mancini J; Thauvin-Robinet C; M'Rrabet A; Ville D; Szepetowski P; Raffo E; Hirsch E; Ryvlin P; Calender A; Genton P
    Epilepsia; 2010 Sep; 51(9):1691-8. PubMed ID: 20738377
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Lafora disease with a fatal outcome].
    Krakhmal NV; Vasilchenko DV; Vtorushin SV
    Arkh Patol; 2022; 84(6):61-66. PubMed ID: 36469720
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel EPM2A mutation yields a slow progression form of Lafora disease.
    Garcia-Gimeno MA; Rodilla-Ramirez PN; Viana R; Salas-Puig X; Brewer MK; Gentry MS; Sanz P
    Epilepsy Res; 2018 Sep; 145():169-177. PubMed ID: 30041081
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
    Gómez-Garre P; Sanz Y; Rodríguez De Córdoba SR; Serratosa JM
    Eur J Hum Genet; 2000 Dec; 8(12):946-54. PubMed ID: 11175283
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.
    Jara-Prado A; Ochoa A; Alonso ME; Lima Villeda GA; Fernández-Valverde F; Ruano-Calderón L; Vargas-Cañas S; Durón RM; Delgado-Escueta AV; Martínez-Juárez IE
    Epilepsy Res; 2014 Nov; 108(9):1501-10. PubMed ID: 25246353
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.
    Dubey D; Parihar R; Ganesh S
    Genomics; 2012 Jan; 99(1):36-43. PubMed ID: 22036712
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Utilization of skin biopsy for diagnosis in a case of Lafora disease.
    Rozenova KA; Lehman JS; Grande JP; Fine AL; Wieland CN
    J Cutan Pathol; 2022 Oct; 49(10):885-888. PubMed ID: 35708461
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.