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167 related items for PubMed ID: 34530085

  • 1. Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
    Amiñoso C, Solera J.
    Gene; 2022 Jan 15; 808():145967. PubMed ID: 34530085
    [Abstract] [Full Text] [Related]

  • 2. Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
    Goina E, Musco L, Dardis A, Buratti E.
    Hum Mutat; 2019 Nov 15; 40(11):2121-2130. PubMed ID: 31301153
    [Abstract] [Full Text] [Related]

  • 3. Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
    Goina E, Peruzzo P, Bembi B, Dardis A, Buratti E.
    Mol Ther; 2017 Sep 06; 25(9):2117-2128. PubMed ID: 28629821
    [Abstract] [Full Text] [Related]

  • 4. A genetic modifier of symptom onset in Pompe disease.
    Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.
    EBioMedicine; 2019 May 06; 43():553-561. PubMed ID: 30922962
    [Abstract] [Full Text] [Related]

  • 5. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 06; 92(4):325-35. PubMed ID: 17723315
    [Abstract] [Full Text] [Related]

  • 6. Novel GAA mutations in patients with Pompe disease.
    Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, Rodrigues E Silva M, de Almeida SS, D'Almeida V, Munoz Rojas MV, Martins AM, Pesquero JB.
    Gene; 2015 Apr 25; 561(1):124-31. PubMed ID: 25681614
    [Abstract] [Full Text] [Related]

  • 7. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
    J Hum Genet; 2019 Aug 25; 64(8):741-755. PubMed ID: 31076647
    [Abstract] [Full Text] [Related]

  • 8. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
    BMC Med Genet; 2019 Sep 11; 20(1):156. PubMed ID: 31510962
    [Abstract] [Full Text] [Related]

  • 9. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov 11; 107(3):485-9. PubMed ID: 23000108
    [Abstract] [Full Text] [Related]

  • 10. Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
    Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E.
    Nucleic Acids Res; 2014 Jan 11; 42(2):1291-302. PubMed ID: 24150945
    [Abstract] [Full Text] [Related]

  • 11. A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
    Bergsma AJ, In 't Groen SLM, Catalano F, Yamanaka M, Takahashi S, Okumiya T, van der Ploeg AT, Pijnappel WWMP.
    Eur J Hum Genet; 2021 Mar 11; 29(3):422-433. PubMed ID: 33168984
    [Abstract] [Full Text] [Related]

  • 12. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
    [Abstract] [Full Text] [Related]

  • 13. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
    Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
    Hum Mutat; 2006 Oct 09; 27(10):999-1006. PubMed ID: 16917947
    [Abstract] [Full Text] [Related]

  • 14. Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
    Bergsma AJ, Kroos M, Hoogeveen-Westerveld M, Halley D, van der Ploeg AT, Pijnappel WW.
    Hum Mutat; 2015 Jan 09; 36(1):57-68. PubMed ID: 25243733
    [Abstract] [Full Text] [Related]

  • 15. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
    Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS, Mattaliano RJ, Marie SK.
    J Neurol; 2009 Nov 09; 256(11):1881-90. PubMed ID: 19588081
    [Abstract] [Full Text] [Related]

  • 16. The genotype-phenotype correlation in Pompe disease.
    Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):59-68. PubMed ID: 22253258
    [Abstract] [Full Text] [Related]

  • 17. c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
    Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ.
    BMJ Case Rep; 2015 Jul 09; 2015():. PubMed ID: 26160551
    [Abstract] [Full Text] [Related]

  • 18. A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
    Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.
    Mol Biol Rep; 2014 Sep 09; 41(9):6211-4. PubMed ID: 24976573
    [Abstract] [Full Text] [Related]

  • 19. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.
    Amiñoso C, Gordillo-Marañón M, Hernández J, Solera J.
    Neuromuscul Disord; 2019 Mar 09; 29(3):187-191. PubMed ID: 30770309
    [Abstract] [Full Text] [Related]

  • 20. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
    Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, Teijeira S, Anyane-Yeboa K, Hirschhorn R.
    Neuromuscul Disord; 2002 Feb 09; 12(2):159-66. PubMed ID: 11738358
    [Abstract] [Full Text] [Related]

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