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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. Crespel A, et al. Epileptic Disord. 2016 Sep 1;18(S2):28-37. doi: 10.1684/epd.2016.0841. Epileptic Disord. 2016. PMID: 27582036 Review.
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encod …
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg dis
Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study.
Sipilä JOT, Hyppönen J, Kytö V, Kälviäinen R. Sipilä JOT, et al. Neurology. 2020 Dec 8;95(23):e3117-e3123. doi: 10.1212/WNL.0000000000010911. Epub 2020 Sep 17. Neurology. 2020. PMID: 32943486 Free PMC article.
OBJECTIVE: To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, population-based setting. ...CONCLUSIONS: Unverricht-Lundborg disease is rare in Finland but still more common than anywhere e …
OBJECTIVE: To investigate the epidemiology and prognosis of Unverricht-Lundborg disease (EPM1) in a nationwide, populat …
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
Berrechid AG, Bendjebara M, Bouteiller D, Nasri A, Peuvion JN, Marie Y, Baulac S, Mrabet S, Ribierre T, Cazeneuve C, Imenkacem, Leguern E, Gouider R. Berrechid AG, et al. Epileptic Disord. 2019 Aug 1;21(4):359-365. doi: 10.1684/epd.2019.1078. Epileptic Disord. 2019. PMID: 31368437 Free article.
Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. ...No correlation was observed between transcription level and severity of disease
Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or le
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. Bosak M, et al. Epilepsy Behav. 2020 Nov;112:107439. doi: 10.1016/j.yebeh.2020.107439. Epub 2020 Sep 10. Epilepsy Behav. 2020. PMID: 32920378
AIM OF THE STUDY: The aim of this study was to explore genetic findings and the phenotype in Polish patients with Unverricht-Lundborg disease (ULD). MATERIALS AND METHODS: We retrospectively evaluated mutations in the cystatin B (CSTB) gene and clinical prese …
AIM OF THE STUDY: The aim of this study was to explore genetic findings and the phenotype in Polish patients with Unverricht-Lundb
Variable course of Unverricht-Lundborg disease: Early prognostic factors.
Canafoglia L, Ferlazzo E, Michelucci R, Striano P, Magaudda A, Gambardella A, Pasini E, Belcastro V, Riguzzi P, Fanella M, Granata T, Beccaria F, Trentini C, Bianchi A, Aguglia U, Panzica F, Franceschetti S. Canafoglia L, et al. Neurology. 2017 Oct 17;89(16):1691-1697. doi: 10.1212/WNL.0000000000004518. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931642
OBJECTIVE: To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we investigated the time course of symptoms and prognostic factors already detectable near to disease onset. ...RESULTS: Disabling myoclo …
OBJECTIVE: To explore the course of Unverricht-Lundborg disease (EPM1) and identify the risk factors for severity, we i …
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease.
Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E. Hainque E, et al. Rev Neurol (Paris). 2018 Jan-Feb;174(1-2):56-65. doi: 10.1016/j.neurol.2017.06.005. Epub 2017 Jul 5. Rev Neurol (Paris). 2018. PMID: 28688606
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. ...
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. ...
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers.
Lasek-Bal A, Lukasik M, Żak A, Sulek A, Bosak M. Lasek-Bal A, et al. Seizure. 2019 Jul;69:87-91. doi: 10.1016/j.seizure.2019.04.008. Epub 2019 Apr 10. Seizure. 2019. PMID: 30999254 Free article.
The purpose of this paper was to present our experience following the longterm treatment of 11 patients with Unverricht-Lundborg disease (ULD) confirmed by molecular testing. METHODS: We analyzed the clinical course, cognitive state, neuroimaging and neurophy …
The purpose of this paper was to present our experience following the longterm treatment of 11 patients with Unverricht-Lundborg
Perampanel in 12 patients with Unverricht-Lundborg disease.
Crespel A, Gelisse P, Tang NP, Genton P. Crespel A, et al. Epilepsia. 2017 Apr;58(4):543-547. doi: 10.1111/epi.13662. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166365
OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures. ...
OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy aga …
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. Hyppönen J, et al. Neurology. 2015 Apr 14;84(15):1529-36. doi: 10.1212/WNL.0000000000001466. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770194
OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease
OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the e …
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. Danner N, et al. Mov Disord. 2013 Nov;28(13):1860-7. doi: 10.1002/mds.25615. Epub 2013 Aug 7. Mov Disord. 2013. PMID: 23925991
Unverricht-Lundborg disease is the most common form of progressive myoclonus epilepsies. ...The results may reflect the refractory nature of the myoclonus and indicate a possible reactive cortical inhibitory mechanism to the underlying disease process.
Unverricht-Lundborg disease is the most common form of progressive myoclonus epilepsies. ...The results may reflect the
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