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 *

121 related articles for article (PubMed ID: 19454373)

  • 1. Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
    Dardis A; Filocamo M; Grossi S; Ciana G; Franceschetti S; Dominissini S; Rubboli G; Di Rocco M; Bembi B
    Mol Genet Metab; 2009 Aug; 97(4):309-11. PubMed ID: 19454373
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 339(1-2):210-3. PubMed ID: 24485911
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
    Balreira A; Gaspar P; Caiola D; Chaves J; Beirão I; Lima JL; Azevedo JE; Miranda MC
    Hum Mol Genet; 2008 Jul; 17(14):2238-43. PubMed ID: 18424452
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.
    Chaves J; Beirão I; Balreira A; Gaspar P; Caiola D; Sá-Miranda MC; Lima JL
    Seizure; 2011 Nov; 20(9):738-40. PubMed ID: 21782476
    [TBL] [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; 18(S2):63-72. PubMed ID: 27582254
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
    Berkovic SF; Dibbens LM; Oshlack A; Silver JD; Katerelos M; Vears DF; Lüllmann-Rauch R; Blanz J; Zhang KW; Stankovich J; Kalnins RM; Dowling JP; Andermann E; Andermann F; Faldini E; D'Hooge R; Vadlamudi L; Macdonell RA; Hodgson BL; Bayly MA; Savige J; Mulley JC; Smyth GK; Power DA; Saftig P; Bahlo M
    Am J Hum Genet; 2008 Mar; 82(3):673-84. PubMed ID: 18308289
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 28(4):552-3. PubMed ID: 23325613
    [No Abstract]   [Full Text] [Related]  

  • 9. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
    Perandones C; Pellene LA; Micheli F
    Mov Disord; 2014 Jan; 29(1):158-9. PubMed ID: 24339182
    [No Abstract]   [Full Text] [Related]  

  • 10. 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(14):1826-7. PubMed ID: 23225201
    [No Abstract]   [Full Text] [Related]  

  • 11. Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
    Gonzalez A; Valeiras M; Sidransky E; Tayebi N
    Mol Genet Metab; 2014 Feb; 111(2):84-91. PubMed ID: 24389070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Advances in research of SCARB2 functions and related disorders].
    He M; Liu Z; Tang B; Wang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct; 32(5):723-7. PubMed ID: 26419000
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mutation in SCARB2 is a modifier in Gaucher disease.
    Velayati A; DePaolo J; Gupta N; Choi JH; Moaven N; Westbroek W; Goker-Alpan O; Goldin E; Stubblefield BK; Kolodny E; Tayebi N; Sidransky E
    Hum Mutat; 2011 Nov; 32(11):1232-8. PubMed ID: 21796727
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 19(4):563-72. PubMed ID: 19933215
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.
    Malini E; Zampieri S; Deganuto M; Romanello M; Sechi A; Bembi B; Dardis A
    FASEB J; 2015 Sep; 29(9):3839-52. PubMed ID: 26018676
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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(9):1200-1. PubMed ID: 22767442
    [No Abstract]   [Full Text] [Related]  

  • 18. Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
    He M; Tang BS; Li N; Mao X; Li J; Zhang JG; Xiao JJ; Wang J; Jiang H; Shen L; Guo JF; Xia K; Wang JL
    Clin Genet; 2014 Dec; 86(6):598-600. PubMed ID: 24620919
    [No Abstract]   [Full Text] [Related]  

  • 19. Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
    Fu YJ; Aida I; Tada M; Tada M; Toyoshima Y; Takeda S; Nakajima T; Naito H; Nishizawa M; Onodera O; Kakita A; Takahashi H
    Neuropathol Appl Neurobiol; 2014 Aug; 40(5):551-63. PubMed ID: 23659519
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.