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Journal Abstract Search

224 related items for PubMed ID: 30312517

  • 1. Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
    Musumeci O, Marino S, Granata F, Morabito R, Bonanno L, Brizzi T, Lo Buono V, Corallo F, Longo M, Toscano A.
    Eur J Neurol; 2019 Mar; 26(3):442-e35. PubMed ID: 30312517
    [Abstract] [Full Text] [Related]

  • 2. Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
    Hensel O, Schneider I, Wieprecht M, Kraya T, Zierz S.
    Orphanet J Rare Dis; 2018 Apr 13; 13(1):57. PubMed ID: 29653542
    [Abstract] [Full Text] [Related]

  • 3. Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
    Zhao Y, Yu X, Li D, He J, Li Y, Zhang B, Zhang N, Wang Q, Yan C.
    Orphanet J Rare Dis; 2024 Jul 15; 19(1):267. PubMed ID: 39010129
    [Abstract] [Full Text] [Related]

  • 4. Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.
    Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, Milardi D, Musumeci O, Toscano A.
    Mol Genet Metab; 2013 Nov 15; 110(3):290-6. PubMed ID: 23916420
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  • 5. Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).
    Montagnese F, Granata F, Musumeci O, Rodolico C, Mondello S, Barca E, Cucinotta M, Ciranni A, Longo M, Toscano A.
    J Inherit Metab Dis; 2016 May 15; 39(3):391-398. PubMed ID: 26830551
    [Abstract] [Full Text] [Related]

  • 6. White matter lesions in treated late onset Pompe disease are not different to matched controls.
    Schneider I, Hensel O, Zierz S.
    Mol Genet Metab; 2019 Jun 15; 127(2):128-131. PubMed ID: 31153821
    [Abstract] [Full Text] [Related]

  • 7. Toward deconstructing the phenotype of late-onset Pompe disease.
    Schüller A, Wenninger S, Strigl-Pill N, Schoser B.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):80-8. PubMed ID: 22253010
    [Abstract] [Full Text] [Related]

  • 8. Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
    Pichiecchio A, Sacco S, De Filippi P, Caverzasi E, Ravaglia S, Bastianello S, Danesino C.
    J Neurol; 2017 Oct 15; 264(10):2110-2118. PubMed ID: 28856460
    [Abstract] [Full Text] [Related]

  • 9. Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
    Khan AA, Boggs T, Bowling M, Austin S, Stefanescu M, Case L, Kishnani PS.
    J Inherit Metab Dis; 2020 May 15; 43(3):549-557. PubMed ID: 31710733
    [Abstract] [Full Text] [Related]

  • 10. Bright tongue sign in patients with late-onset Pompe disease.
    Karam C, Dimitrova D, Yutan E, Chahin N.
    J Neurol; 2019 Oct 15; 266(10):2518-2523. PubMed ID: 31256280
    [Abstract] [Full Text] [Related]

  • 11. Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
    Vanherpe P, Fieuws S, D'Hondt A, Bleyenheuft C, Demaerel P, De Bleecker J, Van den Bergh P, Baets J, Remiche G, Verhoeven K, Delstanche S, Toussaint M, Buyse B, Van Damme P, Depuydt CE, Claeys KG.
    Orphanet J Rare Dis; 2020 Apr 05; 15(1):83. PubMed ID: 32248831
    [Abstract] [Full Text] [Related]

  • 12. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.
    Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN, Soher BJ, Kishnani PS, Bashir MR.
    Muscle Nerve; 2015 May 05; 51(5):722-30. PubMed ID: 25155446
    [Abstract] [Full Text] [Related]

  • 13. The emerging phenotype of late-onset Pompe disease: A systematic literature review.
    Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.
    Mol Genet Metab; 2017 Mar 05; 120(3):163-172. PubMed ID: 28185884
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  • 15. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
    Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.
    J Neurol; 2015 Mar 05; 262(4):968-78. PubMed ID: 25673129
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  • 18. Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1.
    Baldanzi S, Cecchi P, Fabbri S, Pesaresi I, Simoncini C, Angelini C, Bonuccelli U, Cosottini M, Siciliano G.
    Neuroimage Clin; 2016 Mar 05; 12():190-7. PubMed ID: 27437180
    [Abstract] [Full Text] [Related]

  • 19. Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
    Nuñez-Peralta C, Alonso-Pérez J, Llauger J, Segovia S, Montesinos P, Belmonte I, Pedrosa I, Montiel E, Alonso-Jiménez A, Sánchez-González J, Martínez-Noguera A, Illa I, Díaz-Manera J.
    J Cachexia Sarcopenia Muscle; 2020 Aug 05; 11(4):1032-1046. PubMed ID: 32129012
    [Abstract] [Full Text] [Related]

  • 20. Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment.
    Gaeta M, Musumeci O, Mondello S, Ruggeri P, Montagnese F, Cucinotta M, Vinci S, Milardi D, Toscano A.
    Neuromuscul Disord; 2015 Nov 05; 25(11):852-8. PubMed ID: 26410244
    [Abstract] [Full Text] [Related]

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