BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

356 related articles for article (PubMed ID: 24796722)

  • 1. Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.
    Goto M; Saito Y; Honda R; Saito T; Sugai K; Matsuda Y; Miyatake C; Takeshita E; Ishiyama A; Komaki H; Nakagawa E; Sasaki M; Uto C; Kikuchi K; Motoki T; Saitoh S
    Brain Dev; 2015 Feb; 37(2):216-22. PubMed ID: 24796722
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Myoclonus in Angelman syndrome.
    Pollack SF; Grocott OR; Parkin KA; Larson AM; Thibert RL
    Epilepsy Behav; 2018 May; 82():170-174. PubMed ID: 29555100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
    Moncla A; Malzac P; Livet MO; Voelckel MA; Mancini J; Delaroziere JC; Philip N; Mattei JF
    J Med Genet; 1999 Jul; 36(7):554-60. PubMed ID: 10424818
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Angelman Syndrome Due to UBE3A Gene Mutation.
    Goswami JN; Sahu JK; Singhi P
    Indian J Pediatr; 2018 May; 85(5):390-391. PubMed ID: 29250725
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
    Nicita F; Garone G; Papetti L; Consoli F; Magliozzi M; De Luca A; Spalice A
    J Neurogenet; 2015; 29(4):178-82. PubMed ID: 26559560
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cortical myoclonus in Angelman syndrome.
    Guerrini R; De Lorey TM; Bonanni P; Moncla A; Dravet C; Suisse G; Livet MO; Bureau M; Malzac P; Genton P; Thomas P; Sartucci F; Simi P; Serratosa JM
    Ann Neurol; 1996 Jul; 40(1):39-48. PubMed ID: 8687190
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
    Guerrini R; Carrozzo R; Rinaldi R; Bonanni P
    Paediatr Drugs; 2003; 5(10):647-61. PubMed ID: 14510623
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Parental imprinting and Angelman syndrome.
    Lalande M; Minassian BA; DeLorey TM; Olsen RW
    Adv Neurol; 1999; 79():421-9. PubMed ID: 10514831
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epilepsy in Angelman syndrome: A scoping review.
    Samanta D
    Brain Dev; 2021 Jan; 43(1):32-44. PubMed ID: 32893075
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening of UBE3A gene in patients referred for Angelman Syndrome.
    Tzagkaraki E; Sofocleous C; Fryssira-Kanioura H; Dinopoulos A; Goulielmos G; Mavrou A; Kitsiou-Tzeli S; Kanavakis E
    Eur J Paediatr Neurol; 2013 Jul; 17(4):366-73. PubMed ID: 23416059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Implications of slow waves and shifting epileptiform discharges in Angelman syndrome.
    Yum MS; Lee EH; Kim JH; Ko TS; Yoo HW
    Brain Dev; 2013 Mar; 35(3):245-51. PubMed ID: 22704603
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.
    Espay AJ; Andrade DM; Wennberg RA; Lang AE
    Epileptic Disord; 2005 Sep; 7(3):227-30. PubMed ID: 16162432
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Angelman syndrome due to a termination codon mutation of the UBE3A gene.
    Al-Maawali A; Machado J; Fang P; Dupuis L; Faghfoury H; Mendoza-Londono R
    J Child Neurol; 2013 Mar; 28(3):392-5. PubMed ID: 22566713
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Angelman syndrome: correlations between epilepsy phenotypes and genotypes.
    Minassian BA; DeLorey TM; Olsen RW; Philippart M; Bronstein Y; Zhang Q; Guerrini R; Van Ness P; Livet MO; Delgado-Escueta AV
    Ann Neurol; 1998 Apr; 43(4):485-93. PubMed ID: 9546330
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.
    Tzagkaraki E; Christalena S; Helen F; Argyris D; Ariadni M; Emmanuel K
    Hum Genet; 2009 Aug; 126(2):331. PubMed ID: 19693993
    [No Abstract]   [Full Text] [Related]  

  • 16. From electrophysiology to chromatin: a bottom-up approach to Angelman syndrome.
    Dan B; Servais L; Boyd SG; Wagstaff J; Cheron G
    Ann N Y Acad Sci; 2004 Dec; 1030():599-611. PubMed ID: 15659843
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and clinical characterization of Angelman syndrome in Chinese patients.
    Bai JL; Qu YJ; Jin YW; Wang H; Yang YL; Jiang YW; Yang XY; Zou LP; Song F
    Clin Genet; 2014 Mar; 85(3):273-7. PubMed ID: 23551092
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation Update for UBE3A variants in Angelman syndrome.
    Sadikovic B; Fernandes P; Zhang VW; Ward PA; Miloslavskaya I; Rhead W; Rosenbaum R; Gin R; Roa B; Fang P
    Hum Mutat; 2014 Dec; 35(12):1407-17. PubMed ID: 25212744
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome.
    Wang PJ; Hou JW; Sue WC; Lee WT
    Brain Dev; 2005 Mar; 27(2):101-7. PubMed ID: 15668048
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
    Rubboli G; Franceschetti S; Berkovic SF; Canafoglia L; Gambardella A; Dibbens LM; Riguzzi P; Campieri C; Magaudda A; Tassinari CA; Michelucci R
    Epilepsia; 2011 Dec; 52(12):2356-63. PubMed ID: 22050460
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.