These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 36302669)

  • 1. Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.
    Maulet T; Bonnyaud C; Weill C; Laforêt P; Cattagni T
    Neurology; 2023 Jan; 100(1):e72-e83. PubMed ID: 36302669
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers.
    Maulet T; Cattagni T; Dubois F; Roche N; Laforet P; Bonnyaud C
    J Neuromuscul Dis; 2023; 10(5):963-976. PubMed ID: 37545258
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study.
    Maulet T; Bonnyaud C; Laforêt P; Cattagni T
    Neuromuscul Disord; 2023 Dec; 33(12):923-935. PubMed ID: 37989689
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
    Herbert M; Case LE; Rairikar M; Cope H; Bailey L; Austin SL; Kishnani PS
    Mol Genet Metab; 2019 Feb; 126(2):106-116. PubMed ID: 30655185
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 120(3):163-172. PubMed ID: 28185884
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
    Marotto D; Moschetti M; Lo Curto A; Spezzigu AM; Giacomarra M; Marsana EM; Zizzo C; Duro G; Colomba P
    Int J Mol Sci; 2023 Nov; 24(21):. PubMed ID: 37958907
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?
    Starbuck C; Reay J; Silk E; Roberts M; Hendriksz C; Jones R
    Hum Mov Sci; 2021 Jun; 77():102777. PubMed ID: 33730657
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic criteria for late-onset (childhood and adult) Pompe disease.
    American Association of Neuromuscular & Electrodiagnostic Medicine
    Muscle Nerve; 2009 Jul; 40(1):149-60. PubMed ID: 19533647
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis.
    Sarah B; Giovanna B; Emanuela K; Nadi N; Josè V; Alberto P
    J Neurol; 2022 Feb; 269(2):733-741. PubMed ID: 33851281
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
    Confalonieri M; Vitacca M; Scala R; Polverino M; Sabato E; Crescimanno G; Ceriana P; Antonaglia C; Siciliano G; Ring N; Zacchigna S; Salton F; Vianello A;
    Orphanet J Rare Dis; 2019 Mar; 14(1):62. PubMed ID: 30832705
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
    Meznaric M; Fumic K; Leonardis L
    J Clin Pathol; 2019 Jul; 72(7):468-472. PubMed ID: 30878973
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
    Savarese M; Torella A; Musumeci O; Angelini C; Astrea G; Bello L; Bruno C; Comi GP; Di Fruscio G; Piluso G; Di Iorio G; Ergoli M; Esposito G; Fanin M; Farina O; Fiorillo C; Garofalo A; Giugliano T; Magri F; Minetti C; Moggio M; Passamano L; Pegoraro E; Picillo E; Sampaolo S; Santorelli FM; Semplicini C; Udd B; Toscano A; Politano L; Nigro V
    Neuromuscul Disord; 2018 Jul; 28(7):586-591. PubMed ID: 29880332
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study.
    Wenninger S; Greckl E; Babačić H; Stahl K; Schoser B
    J Neurol; 2019 Jan; 266(1):133-147. PubMed ID: 30430231
    [TBL] [Abstract][Full Text] [Related]  

  • 14. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
    Musumeci O; la Marca G; Spada M; Mondello S; Danesino C; Comi GP; Pegoraro E; Antonini G; Marrosu G; Liguori R; Morandi L; Moggio M; Massa R; Ravaglia S; Di Muzio A; Filosto M; Tonin P; Di Iorio G; Servidei S; Siciliano G; Angelini C; Mongini T; Toscano A;
    J Neurol Neurosurg Psychiatry; 2016 Jan; 87(1):5-11. PubMed ID: 25783438
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
    Johnson K; Töpf A; Bertoli M; Phillips L; Claeys KG; Stojanovic VR; Perić S; Hahn A; Maddison P; Akay E; Bastian AE; Łusakowska A; Kostera-Pruszczyk A; Lek M; Xu L; MacArthur DG; Straub V
    Orphanet J Rare Dis; 2017 Nov; 12(1):173. PubMed ID: 29149851
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
    Lévesque S; Auray-Blais C; Gravel E; Boutin M; Dempsey-Nunez L; Jacques PE; Chenier S; Larue S; Rioux MF; Al-Hertani W; Nadeau A; Mathieu J; Maranda B; Désilets V; Waters PJ; Keutzer J; Austin S; Kishnani P
    Orphanet J Rare Dis; 2016 Jan; 11():8. PubMed ID: 26809617
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.
    Lee JH; Shin JH; Park HJ; Kim SZ; Jeon YM; Kim HK; Kim DS; Choi YC
    Neuromuscul Disord; 2017 Jun; 27(6):550-556. PubMed ID: 28433475
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pompe disease: a neuromuscular disease with respiratory muscle involvement.
    Mellies U; Lofaso F
    Respir Med; 2009 Apr; 103(4):477-84. PubMed ID: 19131232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The impact of antibodies in late-onset Pompe disease: a case series and literature review.
    Patel TT; Banugaria SG; Case LE; Wenninger S; Schoser B; Kishnani PS
    Mol Genet Metab; 2012 Jul; 106(3):301-9. PubMed ID: 22613277
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].
    Nikitin SS; Kurbatov SA; Bredelev VA; Kovalchuk MO
    Zh Nevrol Psikhiatr Im S S Korsakova; 2015; 115(12):19-24. PubMed ID: 26978490
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.