BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 15329070)

  • 1. Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
    de Haan GJ; Halley DJ; Doelman JC; Geesink HH; Augustijn PB; Jager-Jongkind AD; Majoie M; Bader AJ; Leliefeld-Ten Doeschate LA; Deelen WH; Bertram E; Lehesjoki AE; Lindhout D
    Epilepsia; 2004 Sep; 45(9):1061-3. PubMed ID: 15329070
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 21(4):359-365. PubMed ID: 31368437
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.
    Mazarib A; Xiong L; Neufeld MY; Birnbaum M; Korczyn AD; Pandolfo M; Berkovic SF
    Neurology; 2001 Sep; 57(6):1050-4. PubMed ID: 11571333
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Unverricht-Lundborg disease with cystatin B gene abnormalities.
    Kagitani-Shimono K; Imai K; Okamoto N; Ono J; Okada S
    Pediatr Neurol; 2002 Jan; 26(1):55-60. PubMed ID: 11814737
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
    Moulard B; Genton P; Grid D; Jeanpierre M; Ouazzani R; Mrabet A; Morris M; LeGuern E; Dravet C; Mauguière F; Utermann B; Baldy-Moulinier M; Belaidi H; Bertran F; Biraben A; Ali Chérif A; Chkili T; Crespel A; Darcel F; Dulac O; Geny C; Humbert-Claude V; Kassiotis P; Buresi C; Malafosse A
    Hum Genet; 2002 Sep; 111(3):255-62. PubMed ID: 12215838
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Unverricht-Lundborg disease (PME1)].
    Genton P
    Rev Neurol (Paris); 2006 Sep; 162(8-9):819-26. PubMed ID: 17028542
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
    Dibbens LM; Michelucci R; Gambardella A; Andermann F; Rubboli G; Bayly MA; Joensuu T; Vears DF; Franceschetti S; Canafoglia L; Wallace R; Bassuk AG; Power DA; Tassinari CA; Andermann E; Lehesjoki AE; Berkovic SF
    Ann Neurol; 2009 Oct; 66(4):532-6. PubMed ID: 19847901
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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; 99(1-2):187-90. PubMed ID: 22154554
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Unverricht-Lundborg disease].
    Naito H; Wachi M
    Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):189-93. PubMed ID: 12483858
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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;
    Epilepsia; 2015 Apr; 56(4):e40-3. PubMed ID: 25752200
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical features and genetics of Unverricht-Lundborg disease.
    Lehesjoki AE
    Adv Neurol; 2002; 89():193-7. PubMed ID: 11968445
    [No Abstract]   [Full Text] [Related]  

  • 19. 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
    Rev Neurol (Paris); 2018; 174(1-2):56-65. PubMed ID: 28688606
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.