These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 32599536)

  • 61. 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]  

  • 62. Epilepsy genes: the link between molecular dysfunction and pathophysiology.
    Stafstrom CE; Tempel BL
    Ment Retard Dev Disabil Res Rev; 2000; 6(4):281-92. PubMed ID: 11107193
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Major intra-familial variability in Unverricht-Lundborg disease.
    Nasri A; Zidi S; Kacem I; Mrabet S; Ben Djebara M; Gargouri A; Leguern E; Gouider R
    Epileptic Disord; 2022 Feb; 24(1):163-170. PubMed ID: 34787084
    [TBL] [Abstract][Full Text] [Related]  

  • 64. 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]  

  • 65. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients.
    Crest C; Dupont S; Leguern E; Adam C; Baulac M
    Neurology; 2004 Feb; 62(4):640-3. PubMed ID: 14981187
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
    Gan JJ; Garcia V; Tian J; Tagliati M; Parisi JE; Chung JM; Lewis R; Baloh R; Levade T; Pierson TM
    Neuromuscul Disord; 2015 Dec; 25(12):959-63. PubMed ID: 26526000
    [TBL] [Abstract][Full Text] [Related]  

  • 67. 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]  

  • 68. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
    Orsini A; Valetto A; Bertini V; Esposito M; Carli N; Minassian BA; Bonuccelli A; Peroni D; Michelucci R; Striano P
    Seizure; 2019 Oct; 71():247-257. PubMed ID: 31476531
    [TBL] [Abstract][Full Text] [Related]  

  • 69. 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; 100(1-4):213-23. PubMed ID: 14526183
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
    Rubboli G; Veggiotti P; Pini A; Berardinelli A; Cantalupo G; Bertini E; Tiziano FD; D'Amico A; Piazza E; Abiusi E; Fiori S; Pasini E; Darra F; Gobbi G; Michelucci R
    Epilepsia; 2015 May; 56(5):692-8. PubMed ID: 25847462
    [TBL] [Abstract][Full Text] [Related]  

  • 71. 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]  

  • 72. [Unverricht's syndrome (familial and hereditary disease of the nervous system)].
    CARON S; MICHEL P
    Laval Med; 1950 Dec; 15(10):1354-64. PubMed ID: 14805166
    [No Abstract]   [Full Text] [Related]  

  • 73. Increased anxiety was found in serpini1 knockout zebrafish larval.
    Han S; Fei F; Sun S; Zhang D; Dong Q; Wang X; Wang L
    Biochem Biophys Res Commun; 2021 Jan; 534():1013-1019. PubMed ID: 33168193
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy.
    Takao M; Benson MD; Murrell JR; Yazaki M; Piccardo P; Unverzagt FW; Davis RL; Holohan PD; Lawrence DA; Richardson R; Farlow MR; Ghetti B
    J Neuropathol Exp Neurol; 2000 Dec; 59(12):1070-86. PubMed ID: 11138927
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature.
    di Giacopo A; Baumann CR; Kurthen M; Capecchi F; Sürücü O; Imbach LL
    Epileptic Disord; 2019 Jun; 21(3):283-288. PubMed ID: 31225807
    [TBL] [Abstract][Full Text] [Related]  

  • 76. 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]  

  • 77. [Progressive myoclonic epilepsy secondary to Lafora's body disease].
    Potes T; Galicchio S; Rosso B; Besocke G; García MDC; Avalos JC
    Medicina (B Aires); 2018; 78(6):436-439. PubMed ID: 30504111
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
    Krabichler B; Rostasy K; Baumann M; Karall D; Scholl-Bürgi S; Schwarzer C; Gautsch K; Spreiz A; Kotzot D; Zschocke J; Fauth C; Haberlandt E
    Ann Hum Genet; 2012 Jul; 76(4):326-31. PubMed ID: 22606975
    [TBL] [Abstract][Full Text] [Related]  

  • 79. 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]  

  • 80. 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]  

    [Previous]   [Next]    [New Search]
    of 8.