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Journal Abstract Search
321 related items for PubMed ID: 25752200
1. No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. Mumoli L, Tarantino P, Michelucci R, Bianchi A, Labate A, Franceschetti S, Marini C, Striano P, Gagliardi M, Ferlazzo E, Sofia V, Pennese L, Annesi G, Aguglia U, Guerrini R, Zara F, Gambardella A, Genetic Commission, Italian League Against Epilepsy. Epilepsia; 2015 Apr; 56(4):e40-3. PubMed ID: 25752200 [Abstract] [Full Text] [Related]
2. [From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene]. de Haan GJ, Halley DJ, Deelen WH, Lindhout D. Ned Tijdschr Geneeskd; 2002 May 04; 146(18):846-8. PubMed ID: 12038222 [Abstract] [Full Text] [Related]
3. 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 04; 53(12):2120-7. PubMed ID: 23205931 [Abstract] [Full Text] [Related]
4. 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 Dec 04; 8(6):515-22. PubMed ID: 21757863 [Abstract] [Full Text] [Related]
5. Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? Taylor I, Marini C, Johnson MR, Turner S, Berkovic SF, Scheffer IE. Brain; 2004 Aug 04; 127(Pt 8):1878-86. PubMed ID: 15201194 [Abstract] [Full Text] [Related]
6. 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. Epileptic Disord; 2019 Aug 01; 21(4):359-365. PubMed ID: 31368437 [Abstract] [Full Text] [Related]
7. 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 01; 15(2):185-93. PubMed ID: 17003839 [Abstract] [Full Text] [Related]
8. 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 14; 84(15):1529-36. PubMed ID: 25770194 [Abstract] [Full Text] [Related]
9. Clinical genetic study in juvenile myoclonic epilepsy. Cvetkovska E, Panov S, Kuzmanovski I. Seizure; 2014 Nov 14; 23(10):903-5. PubMed ID: 25108570 [Abstract] [Full Text] [Related]
10. Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy. Acharya JN, Acharya VJ. J Clin Neurophysiol; 2023 Feb 01; 40(2):100-108. PubMed ID: 36735458 [Abstract] [Full Text] [Related]
11. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. Lalioti MD, Antonarakis SE, Scott HS. Cytogenet Genome Res; 2003 Feb 01; 100(1-4):213-23. PubMed ID: 14526183 [Abstract] [Full Text] [Related]
12. Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE. Eur J Hum Genet; 2005 Feb 01; 13(2):208-15. PubMed ID: 15483648 [Abstract] [Full Text] [Related]
13. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. Nature; 1997 Apr 24; 386(6627):847-51. PubMed ID: 9126745 [Abstract] [Full Text] [Related]
14. 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 24; 47(10):1650-4. PubMed ID: 17054687 [Abstract] [Full Text] [Related]
15. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, León L, Pineda G, Castroviejo IP, Silva R, Mija L, Perez-Gosiengfiao K, Machado-Salas J, Delgado-Escueta AV. Brain; 2006 May 24; 129(Pt 5):1269-80. PubMed ID: 16520331 [Abstract] [Full Text] [Related]
17. Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy. von Podewils F, Kowoll V, Schroeder W, Geithner J, Wang ZI, Gaida B, Bombach P, Kessler C, Felbor U, Runge U. Epilepsy Behav; 2015 Mar 24; 44():61-6. PubMed ID: 25625532 [Abstract] [Full Text] [Related]
18. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene. Pinto E, Freitas J, Duarte AJ, Ribeiro I, Ribeiro D, Lima JL, Chaves J, Amaral O. Epilepsy Res; 2012 Mar 24; 99(1-2):187-90. PubMed ID: 22154554 [Abstract] [Full Text] [Related]
19. 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 24; 58(2):e31-e35. PubMed ID: 27888502 [Abstract] [Full Text] [Related]
20. The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1. Singh S, Hämäläinen RH. Cells; 2024 Jan 16; 13(2):. PubMed ID: 38247861 [Abstract] [Full Text] [Related] Page: [Next] [New Search]