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27. Identical genetic locus for Baltic and Mediterranean myoclonus. Malafosse A; Lehesjoki AE; Genton P; Labauge P; Durand G; Tassinari CA; Dravet C; Michelucci R; de la Chapelle A Lancet; 1992 May; 339(8801):1080-1. PubMed ID: 1349105 [TBL] [Abstract][Full Text] [Related]
28. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Lafrenière RG; Rochefort DL; Chrétien N; Rommens JM; Cochius JI; Kälviäinen R; Nousiainen U; Patry G; Farrell K; Söderfeldt B; Federico A; Hale BR; Cossio OH; Sørensen T; Pouliot MA; Kmiec T; Uldall P; Janszky J; Pranzatelli MR; Andermann F; Andermann E; Rouleau GA Nat Genet; 1997 Mar; 15(3):298-302. PubMed ID: 9054946 [TBL] [Abstract][Full Text] [Related]
29. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Gribaa M; Salih M; Anheim M; Lagier-Tourenne C; H'mida D; Drouot N; Mohamed A; Elmalik S; Kabiraj M; Al-Rayess M; Almubarak M; Bétard C; Goebel H; Koenig M Brain; 2007 Jul; 130(Pt 7):1921-8. PubMed ID: 17470496 [TBL] [Abstract][Full Text] [Related]
30. Abnormal motor cortical adaptation to external stimulus in Unverricht-Lundborg disease (progressive myoclonus type 1, EPM1). Julkunen P; Löfberg O; Kallioniemi E; Hyppönen J; Kälviäinen R; Mervaala E J Neurophysiol; 2018 Aug; 120(2):617-623. PubMed ID: 29742025 [TBL] [Abstract][Full Text] [Related]
31. TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). Julkunen P; Säisänen L; Könönen M; Vanninen R; Kälviäinen R; Mervaala E Epilepsy Res; 2013 Sep; 106(1-2):103-12. PubMed ID: 23642573 [TBL] [Abstract][Full Text] [Related]
32. Lafora's disease: towards a clinical, pathologic, and molecular synthesis. Minassian BA Pediatr Neurol; 2001 Jul; 25(1):21-9. PubMed ID: 11483392 [TBL] [Abstract][Full Text] [Related]
33. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Mikami M; Yasuda T; Terao A; Nakamura M; Ueno S; Tanabe H; Tanaka T; Onuma T; Goto Y; Kaneko S; Sano A Am J Hum Genet; 1999 Sep; 65(3):745-51. PubMed ID: 10441581 [TBL] [Abstract][Full Text] [Related]
35. Efficacy of topiramate as add-on therapy in two different types of progressive myoclonic epilepsy. Demir CF; Ozdemir HH; Müngen B Acta Medica (Hradec Kralove); 2013; 56(1):36-8. PubMed ID: 23909054 [TBL] [Abstract][Full Text] [Related]
37. Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Bespalova IN; Adkins S; Pranzatelli M; Burmeister M Am J Med Genet; 1997 Sep; 74(5):467-71. PubMed ID: 9342192 [TBL] [Abstract][Full Text] [Related]
38. Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study. Hyppönen J; Äikiä M; Joensuu T; Julkunen P; Danner N; Koskenkorva P; Vanninen R; Lehesjoki AE; Mervaala E; Kälviäinen R Neurology; 2015 Apr; 84(15):1529-36. PubMed ID: 25770194 [TBL] [Abstract][Full Text] [Related]
39. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Yamakawa K; Mitchell S; Hubert R; Chen XN; Colbern S; Huo YK; Gadomski C; Kim UJ; Korenberg JR Hum Mol Genet; 1995 Apr; 4(4):709-16. PubMed ID: 7633421 [TBL] [Abstract][Full Text] [Related]
40. Concentrations of gamma-aminobutyric acid and adenosine in the CSF in progressive myoclonus epilepsy without Lafora's bodies. Ohisalo JJ; Murros K; Fredholm BB; Hare TA Arch Neurol; 1983 Oct; 40(10):623-5. PubMed ID: 6412668 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]