156 related articles for article (PubMed ID: 21075014)
1. Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1).
Danner N; Julkunen P; Könönen M; Hyppönen J; Koskenkorva P; Vanninen R; Lehesjoki AE; Kälviäinen R; Mervaala E
Seizure; 2011 Jan; 20(1):65-71. PubMed ID: 21075014
[TBL] [Abstract][Full Text] [Related]
2. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
Koskenkorva P; Hyppönen J; Aikiä M; Mervaala E; Kiviranta T; Eriksson K; Lehesjoki AE; Vanninen R; Kälviäinen R
Neurodegener Dis; 2011; 8(6):515-22. PubMed ID: 21757863
[TBL] [Abstract][Full Text] [Related]
3. Alterations of motor cortical excitability and anatomy in Unverricht-Lundborg disease.
Danner N; Julkunen P; Hyppönen J; Niskanen E; Säisänen L; Könönen M; Koskenkorva P; Vanninen R; Kälviäinen R; Mervaala E
Mov Disord; 2013 Nov; 28(13):1860-7. PubMed ID: 23925991
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L; Gennaro E; Capovilla G; Gobbi G; Boni A; Beccaria F; Viri M; Michelucci R; Agazzi P; Assereto S; Coviello DA; Di Stefano M; Rossi Sebastiano D; Franceschetti S; Zara F
Epilepsia; 2012 Dec; 53(12):2120-7. PubMed ID: 23205931
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).
Danner N; Julkunen P; Khyuppenen J; Hukkanen T; Könönen M; Säisänen L; Koskenkorva P; Vanninen R; Lehesjoki AE; Kälviäinen R; Mervaala E
Epilepsy Res; 2009 Jul; 85(1):81-8. PubMed ID: 19321308
[TBL] [Abstract][Full Text] [Related]
8. Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study.
Koskenkorva P; Khyuppenen J; Niskanen E; Könönen M; Bendel P; Mervaala E; Lehesjoki AE; Kälviäinen R; Vanninen R
Neurology; 2009 Aug; 73(8):606-11. PubMed ID: 19704079
[TBL] [Abstract][Full Text] [Related]
9. Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
Santoshkumar B; Turnbull J; Minassian BA
Pediatr Neurol; 2008 Apr; 38(4):252-5. PubMed ID: 18358403
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Motor cortical plasticity is impaired in Unverricht-Lundborg disease.
Danner N; Säisänen L; Määttä S; Julkunen P; Hukkanen T; Könönen M; Hyppönen J; Kälviäinen R; Mervaala E
Mov Disord; 2011 Sep; 26(11):2095-100. PubMed ID: 21661050
[TBL] [Abstract][Full Text] [Related]
12. Reduced cortical activation in inferior frontal junction in Unverricht-Lundborg disease (EPM1) - A motor fMRI study.
Könönen M; Danner N; Koskenkorva P; Kälviäinen R; Hyppönen J; Mervaala E; Karjalainen P; Vanninen R; Niskanen E
Epilepsy Res; 2015 Mar; 111():78-84. PubMed ID: 25769376
[TBL] [Abstract][Full Text] [Related]
13. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T; Kuronen M; Alakurtti K; Tegelberg S; Hakala P; Aalto A; Huopaniemi L; Aula N; Michellucci R; Eriksson K; Lehesjoki AE
Eur J Hum Genet; 2007 Feb; 15(2):185-93. PubMed ID: 17003839
[TBL] [Abstract][Full Text] [Related]
14. White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
Manninen O; Koskenkorva P; Lehtimäki KK; Hyppönen J; Könönen M; Laitinen T; Kalimo H; Kopra O; Kälviäinen R; Gröhn O; Lehesjoki AE; Vanninen R
Radiology; 2013 Oct; 269(1):232-9. PubMed ID: 23788720
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T; Lehesjoki AE; Kopra O
Epilepsia; 2008 Apr; 49(4):557-63. PubMed ID: 18028412
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study.
Visani E; Minati L; Canafoglia L; Gilioli I; Granvillano A; Varotto G; Aquino D; Fazio P; Bruzzone MG; Franceschetti S; Panzica F
Brain Topogr; 2011 Mar; 24(1):65-77. PubMed ID: 21107673
[TBL] [Abstract][Full Text] [Related]
19. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
Weinhaeusel A; Morris MA; Antonarakis SE; Haas OA
Hum Mutat; 2003 Nov; 22(5):404-8. PubMed ID: 14517952
[TBL] [Abstract][Full Text] [Related]
20. Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.
Suoranta S; Manninen H; Koskenkorva P; Könönen M; Laitinen R; Lehesjoki AE; Kälviäinen R; Vanninen R
Bone; 2012 Dec; 51(6):1016-24. PubMed ID: 23010349
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]