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Journal Abstract Search

386 related items for PubMed ID: 19847901

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
    Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R.
    Epilepsia; 2011 Dec; 52(12):2356-63. PubMed ID: 22050460
    [Abstract] [Full Text] [Related]

  • 3. Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
    Dibbens LM, Karakis I, Bayly MA, Costello DJ, Cole AJ, Berkovic SF.
    Arch Neurol; 2011 Jun; 68(6):812-3. PubMed ID: 21670406
    [Abstract] [Full Text] [Related]

  • 4. A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
    Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A.
    J Neurol Sci; 2014 Apr 15; 339(1-2):210-3. PubMed ID: 24485911
    [Abstract] [Full Text] [Related]

  • 5. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
    Dibbens L, Schwake M, Saftig P, Rubboli G.
    Epileptic Disord; 2016 Sep 01; 18(S2):63-72. PubMed ID: 27582254
    [Abstract] [Full Text] [Related]

  • 6. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
    Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.
    BMC Neurol; 2011 Oct 27; 11():134. PubMed ID: 22032306
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  • 9. A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
    Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N.
    Mov Disord; 2013 Apr 27; 28(4):552-3. PubMed ID: 23325613
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  • 11. Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
    Tian WT, Liu XL, Xu YQ, Huang XJ, Zhou HY, Wang Y, Tang HD, Chen SD, Luan XH, Cao L.
    Seizure; 2018 Apr 27; 57():80-86. PubMed ID: 29605618
    [Abstract] [Full Text] [Related]

  • 12. A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
    Perandones C, Micheli FE, Pellene LA, Bayly MA, Berkovic SF, Dibbens LM.
    Mov Disord; 2012 Aug 27; 27(9):1200-1. PubMed ID: 22767442
    [No 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 27; 15(2):185-93. PubMed ID: 17003839
    [Abstract] [Full Text] [Related]

  • 14. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
    Guerrero-López R, García-Ruiz PJ, Giráldez BG, Durán-Herrera C, Querol-Pascual MR, Ramírez-Moreno JM, Más S, Serratosa JM.
    Mov Disord; 2012 Dec 27; 27(14):1826-7. PubMed ID: 23225201
    [No Abstract] [Full Text] [Related]

  • 15. [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
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  • 16. 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 04; 111(3):255-62. PubMed ID: 12215838
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  • 17. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
    Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E.
    Brain; 2004 Oct 04; 127(Pt 10):2173-82. PubMed ID: 15364701
    [Abstract] [Full Text] [Related]

  • 18. Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.
    He J, Lin H, Li JJ, Su HZ, Wang DN, Lin Y, Wang N, Chen WJ.
    Chin Med J (Engl); 2018 Jul 05; 131(13):1575-1583. PubMed ID: 29941711
    [Abstract] [Full Text] [Related]

  • 19. Clinical picture of EPM1-Unverricht-Lundborg disease.
    Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E.
    Epilepsia; 2008 Apr 05; 49(4):549-56. PubMed ID: 18325013
    [Abstract] [Full Text] [Related]

  • 20. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
    Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M.
    Hum Mol Genet; 2010 Feb 15; 19(4):563-72. PubMed ID: 19933215
    [Abstract] [Full Text] [Related]

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