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Journal Abstract Search

193 related items for PubMed ID: 29605618

  • 21. 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 15; 17(14):2238-43. PubMed ID: 18424452
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  • 22. 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 15; 32(11):1232-8. PubMed ID: 21796727
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  • 23. Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.
    Desbuissons G, Brocheriou I, Touchard G, Goujon JM, Méneret A, Isnard-Bagnis C.
    Nephron; 2020 Nov 15; 144(2):55-58. PubMed ID: 31514193
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  • 24. 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 15; 97(4):309-11. PubMed ID: 19454373
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  • 25. Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings.
    Nair LJ, Vijayaraghavan A.
    Mov Disord Clin Pract; 2024 Aug 15; 11(8):1035-1037. PubMed ID: 38741477
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  • 26. [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 15; 32(5):723-7. PubMed ID: 26419000
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  • 31. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings.
    Tanriverdi U, Ser MH, Yesil G, Gunduz A, Ozkara C, Kiziltan ME.
    Parkinsonism Relat Disord; 2022 Jun 15; 99():73-75. PubMed ID: 35617746
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  • 32. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
    Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF.
    Brain; 2013 Apr 15; 136(Pt 4):1146-54. PubMed ID: 23449775
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  • 33. Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.
    Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E, Tiziano FD, D'Amico A, Piazza E, Abiusi E, Fiori S, Pasini E, Darra F, Gobbi G, Michelucci R.
    Epilepsia; 2015 May 15; 56(5):692-8. PubMed ID: 25847462
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  • 34. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.
    Polet SS, Anderson DG, Koens LH, van Egmond ME, Drost G, Brusse E, Willemsen MA, Sival DA, Brouwer OF, Kremer HP, de Vries JJ, Tijssen MA, de Koning TJ.
    Parkinsonism Relat Disord; 2020 Mar 15; 72():44-48. PubMed ID: 32105965
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  • 36. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
    Nascimento FA, Andrade DM.
    Epileptic Disord; 2016 Sep 01; 18(S2):135-138. PubMed ID: 27629860
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  • 37. GOSR2: a progressive myoclonus epilepsy gene.
    Dibbens LM, Rubboli G.
    Epileptic Disord; 2016 Sep 01; 18(S2):111-114. PubMed ID: 27618868
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  • 38. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
    Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G.
    Epilepsia; 2023 Aug 01; 64(8):e170-e176. PubMed ID: 37114479
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  • 39. Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
    Ji C, Zhao J, Zhang J, Wang K.
    Neurol Sci; 2023 Oct 01; 44(10):3495-3498. PubMed ID: 37249665
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  • 40. Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models.
    Panzica F, Canafoglia L, Franceschetti S, Binelli S, Ciano C, Visani E, Avanzini G.
    Clin Neurophysiol; 2003 Jun 01; 114(6):1041-52. PubMed ID: 12804673
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