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 *

174 related articles for article (PubMed ID: 22047982)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
    Couarch P; Vernia S; Gourfinkel-An I; Lesca G; Gataullina S; Fedirko E; Trouillard O; Depienne C; Dulac O; Steschenko D; Leguern E; Sanz P; Baulac S
    J Mol Med (Berl); 2011 Sep; 89(9):915-25. PubMed ID: 21505799
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
    Singh S; Suzuki T; Uchiyama A; Kumada S; Moriyama N; Hirose S; Takahashi Y; Sugie H; Mizoguchi K; Inoue Y; Kimura K; Sawaishi Y; Yamakawa K; Ganesh S
    J Hum Genet; 2005; 50(7):347-352. PubMed ID: 16021330
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families.
    d'Orsi G; Lalla A; Palumbo O; Di Claudio MT; Valenzano A; Sabetta A; Lopopolo A; Muro ED; Palumbo P; Copetti M; Carella M; Avolio C
    Seizure; 2020 Dec; 83():145-153. PubMed ID: 33152654
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Lafora disease due to EPM2B mutations: a clinical and genetic study.
    Gómez-Abad C; Gómez-Garre P; Gutiérrez-Delicado E; Saygi S; Michelucci R; Tassinari CA; Rodríguez de Córdoba S; Serratosa JM
    Neurology; 2005 Mar; 64(6):982-6. PubMed ID: 15781812
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
    Ferlazzo E; Canafoglia L; Michelucci R; Gambardella A; Gennaro E; Pasini E; Riguzzi P; Plasmati R; Volpi L; Labate A; Gasparini S; Villani F; Casazza M; Viri M; Zara F; Minassian BA; Turnbull J; Serratosa JM; Guerrero-López R; Franceschetti S; Aguglia U
    Epilepsia; 2014 Dec; 55(12):e129-33. PubMed ID: 25270369
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
    Ianzano L; Zhang J; Chan EM; Zhao XC; Lohi H; Scherer SW; Minassian BA
    Hum Mutat; 2005 Oct; 26(4):397. PubMed ID: 16134145
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.
    Singh S; Sethi I; Francheschetti S; Riggio C; Avanzini G; Yamakawa K; Delgado-Escueta AV; Ganesh S
    J Med Genet; 2006 Sep; 43(9):e48. PubMed ID: 16950819
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
    Riva A; Orsini A; Scala M; Taramasso V; Canafoglia L; d'Orsi G; Di Claudio MT; Avolio C; D'Aniello A; Elia M; Franceschetti S; Di Gennaro G; Bisulli F; Tinuper P; Tappatà M; Romeo A; Freri E; Marini C; Costa C; Sofia V; Ferlazzo E; Magaudda A; Veggiotti P; Gennaro E; Pistorio A; Minetti C; Bianchi A; Striano S; Michelucci R; Zara F; Minassian BA; Striano P;
    J Neurol Sci; 2021 May; 424():117409. PubMed ID: 33773408
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease.
    Fu Y; Zhou C; Song R; Peng J; Yang X; Xiao B; Zhou J; Long H
    Neurol Sci; 2020 Aug; 41(8):2267-2270. PubMed ID: 32342326
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.