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Journal Abstract Search

193 related items for PubMed ID: 21796727

  • 21. A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.
    Yari A, Ali-Nejad RM, Saleh-Gohari N.
    Neurol Sci; 2021 Dec; 42(12):5077-5085. PubMed ID: 33772352
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.
    Pediatr Res; 2003 Mar; 53(3):387-95. PubMed ID: 12595585
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  • 29. Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.
    Maniwang E, Tayebi N, Sidransky E.
    Mol Genet Metab; 2013 Apr; 108(4):269-71. PubMed ID: 23419877
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  • 30. 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
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  • 31. 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
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  • 32. 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 05; 66(4):532-6. PubMed ID: 19847901
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  • 33. Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
    Pérez-Roca L, Prada-Dacasa P, Segú-Vergés C, Gámez-Valero A, Serrano-Muñoz MA, Santos C, Beyer K.
    Neurosci Lett; 2019 Jul 27; 706():164-168. PubMed ID: 31116970
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  • 34. Gaucher mutation N188S is associated with myoclonic epilepsy.
    Kowarz L, Goker-Alpan O, Banerjee-Basu S, LaMarca ME, Kinlaw L, Schiffmann R, Baxevanis AD, Sidransky E.
    Hum Mutat; 2005 Sep 27; 26(3):271-3; author reply 274-5. PubMed ID: 16086325
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  • 35. Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export.
    Heybrock S, Kanerva K, Meng Y, Ing C, Liang A, Xiong ZJ, Weng X, Ah Kim Y, Collins R, Trimble W, Pomès R, Privé GG, Annaert W, Schwake M, Heeren J, Lüllmann-Rauch R, Grinstein S, Ikonen E, Saftig P, Neculai D.
    Nat Commun; 2019 Aug 06; 10(1):3521. PubMed ID: 31387993
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  • 36. 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 06; 86(6):598-600. PubMed ID: 24620919
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  • 37. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
    Perandones C, Pellene LA, Micheli F.
    Mov Disord; 2014 Jan 06; 29(1):158-9. PubMed ID: 24339182
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  • 38. LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
    Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.
    Proc Natl Acad Sci U S A; 2014 Oct 28; 111(43):15573-8. PubMed ID: 25316793
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  • 39. The role of SCARB2 as susceptibility factor in Parkinson's disease.
    Hopfner F, Schulte EC, Mollenhauer B, Bereznai B, Knauf F, Lichtner P, Zimprich A, Haubenberger D, Pirker W, Brücke T, Peters A, Gieger C, Kuhlenbäumer G, Trenkwalder C, Winkelmann J.
    Mov Disord; 2013 Apr 28; 28(4):538-40. PubMed ID: 23408458
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  • 40. 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 28; 27(14):1826-7. PubMed ID: 23225201
    [No Abstract] [Full Text] [Related]

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