151 related articles for article (PubMed ID: 16379547)
21. Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans.
Osawa M; Kaneko M; Horiuchi H; Kitano T; Kawamoto Y; Saitou N; Umetsu K
Genomics; 2003 Jan; 81(1):78-84. PubMed ID: 12573263
[TBL] [Abstract][Full Text] [Related]
22. Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs.
Lucchino V; Scaramuzzino L; Scalise S; Lo Conte M; Zannino C; Benedetto GL; Aguglia U; Ferlazzo E; Cuda G; Parrotta EI
Cells; 2022 Nov; 11(21):. PubMed ID: 36359887
[TBL] [Abstract][Full Text] [Related]
23. A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.
Assenza G; Benvenga A; Gennaro E; Tombini M; Campana C; Assenza F; Di Pino G; Di Lazzaro V
Epilepsia; 2017 Feb; 58(2):e31-e35. PubMed ID: 27888502
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
Kecmanović M; Ristić AJ; Sokić D; Keckarević-Marković M; Vojvodić N; Ercegovac M; Janković S; Keckarević D; Savić-Pavićević D; Romac S
Epilepsia; 2009 Jun; 50(6):1612-5. PubMed ID: 19170735
[TBL] [Abstract][Full Text] [Related]
26. Clinical picture of EPM1-Unverricht-Lundborg disease.
Kälviäinen R; Khyuppenen J; Koskenkorva P; Eriksson K; Vanninen R; Mervaala E
Epilepsia; 2008 Apr; 49(4):549-56. PubMed ID: 18325013
[TBL] [Abstract][Full Text] [Related]
27. 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]
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. Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
Bosak M; Sułek A; Łukasik M; Żak A; Słowik A; Lasek-Bal A
Epilepsy Behav; 2020 Nov; 112():107439. PubMed ID: 32920378
[TBL] [Abstract][Full Text] [Related]
30. First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.
Kim KH; Song JS; Park CW; Ki CS; Heo K
Yonsei Med J; 2018 Aug; 59(6):798-800. PubMed ID: 29978618
[TBL] [Abstract][Full Text] [Related]
31. Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n.
Pataskar SS; Dash D; Brahmachari SK
J Biomol Struct Dyn; 2001 Oct; 19(2):307-13. PubMed ID: 11697735
[TBL] [Abstract][Full Text] [Related]
32. Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.
Pataskar SS; Dash D; Brahmachari SK
J Biomol Struct Dyn; 2001 Oct; 19(2):293-305. PubMed ID: 11697734
[TBL] [Abstract][Full Text] [Related]
33. Altered tryptophan metabolism in the brain of cystatin B-deficient mice: a model system for progressive myoclonus epilepsy.
Vaarmann A; Kaasik A; Zharkovsky A
Epilepsia; 2006 Oct; 47(10):1650-4. PubMed ID: 17054687
[TBL] [Abstract][Full Text] [Related]
34. Unverricht-Lundborg disease.
Crespel A; Ferlazzo E; Franceschetti S; Genton P; Gouider R; Kälviäinen R; Korja M; Lehtinen MK; Mervaala E; Simonato M; Vaarmann A
Epileptic Disord; 2016 Sep; 18(S2):28-37. PubMed ID: 27582036
[TBL] [Abstract][Full Text] [Related]
35. Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).
Singh S; Plotnikova L; Karvonen K; Ryytty S; Hyppönen J; Kälviäinen R; Hämäläinen RH
Stem Cell Res; 2023 Dec; 73():103248. PubMed ID: 37951142
[TBL] [Abstract][Full Text] [Related]
36. Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.
Hosny H; El Tamawy M; Gouider R; Lesca G; Abdel Naseer M; Kishk N; Abdel-Hamid MS; Ashmawi A
Epilepsy Res; 2021 Oct; 176():106746. PubMed ID: 34474241
[TBL] [Abstract][Full Text] [Related]
37. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Virtaneva K; D'Amato E; Miao J; Koskiniemi M; Norio R; Avanzini G; Franceschetti S; Michelucci R; Tassinari CA; Omer S; Pennacchio LA; Myers RM; Dieguez-Lucena JL; Krahe R; de la Chapelle A; Lehesjoki AE
Nat Genet; 1997 Apr; 15(4):393-6. PubMed ID: 9090386
[TBL] [Abstract][Full Text] [Related]
38. FOunder effect in patients with Unverricht-Lundborg disease on reunion island.
Moulard B; Darcel F; Mignard D; Jeanpierre M; Genton P; Cartault F; Yaouanq J; Roubertie A; Biraben A; Buresi C; Malafosse A
Epilepsia; 2003 Oct; 44(10):1357-60. PubMed ID: 14510831
[TBL] [Abstract][Full Text] [Related]
39. A patient with 2 different repeat expansion mutations.
Nokelainen P; Heiskala H; Lehesjoki AE; Kaski M
Arch Neurol; 2000 Aug; 57(8):1199-203. PubMed ID: 10927802
[TBL] [Abstract][Full Text] [Related]
40. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
Lalioti MD; Mirotsou M; Buresi C; Peitsch MC; Rossier C; Ouazzani R; Baldy-Moulinier M; Bottani A; Malafosse A; Antonarakis SE
Am J Hum Genet; 1997 Feb; 60(2):342-51. PubMed ID: 9012407
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
