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Journal Abstract Search

193 related items for PubMed ID: 29605618

  • 1. 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; 57():80-86. PubMed ID: 29605618
    [Abstract] [Full Text] [Related]

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  • 3. 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]

  • 4. 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 01; 42(12):5077-5085. PubMed ID: 33772352
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 8. 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]

  • 9. 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 15; 66(4):532-6. PubMed ID: 19847901
    [Abstract] [Full Text] [Related]

  • 10. Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
    Atasu B, Acarlı ANO, Bilgic B, Baykan B, Demir E, Ozluk Y, Turkmen A, Hauser AK, Guven G, Hanagasi H, Gurvit H, Emre M, Gasser T, Lohmann E.
    BMC Neurol; 2022 Mar 28; 22(1):122. PubMed ID: 35346091
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  • 12. 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 28; 82(3):673-84. PubMed ID: 18308289
    [Abstract] [Full Text] [Related]

  • 13. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
    Perandones C, Pellene LA, Micheli F.
    Mov Disord; 2014 Jan 28; 29(1):158-9. PubMed ID: 24339182
    [No 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 28; 27(14):1826-7. PubMed ID: 23225201
    [No Abstract] [Full Text] [Related]

  • 15. 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 28; 27(9):1200-1. PubMed ID: 22767442
    [No Abstract] [Full Text] [Related]

  • 16. 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 28; 20(9):738-40. PubMed ID: 21782476
    [Abstract] [Full Text] [Related]

  • 17. 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; 28(4):552-3. PubMed ID: 23325613
    [No Abstract] [Full Text] [Related]

  • 18. 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 28; 111(2):84-91. PubMed ID: 24389070
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  • 19. 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 28; 86(6):598-600. PubMed ID: 24620919
    [No Abstract] [Full Text] [Related]

  • 20. A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
    Algahtani H, Al-Hakami F, Al-Shehri M, Shirah B, Al-Qahtani MH, Abdulkareem AA, Naseer MI.
    Seizure; 2019 Jul 28; 69():133-139. PubMed ID: 31035234
    [Abstract] [Full Text] [Related]

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