BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 30878973)

  • 21. An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
    Kulessa M; Weyer-Menkhoff I; Viergutz L; Kornblum C; Claeys KG; Schneider I; Plöckinger U; Young P; Boentert M; Vielhaber S; Mawrin C; Bergmann M; Weis J; Ziagaki A; Stenzel W; Deschauer M; Nolte D; Hahn A; Schoser B; Schänzer A
    Neuropathol Appl Neurobiol; 2020 Jun; 46(4):359-374. PubMed ID: 31545528
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N; Lukacs Z; Vinge L; Madsen KL; Husu E; Hansen RS; Duno M; Andersen H; Laub M; Vissing J
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    Lorenzoni PJ; Kay CSK; Higashi NS; D'Almeida V; Werneck LC; Scola RH
    Arq Neuropsiquiatr; 2018 Apr; 76(4):247-251. PubMed ID: 29742245
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Pompe disease in Austria: clinical, genetic and epidemiological aspects.
    Löscher WN; Huemer M; Stulnig TM; Simschitz P; Iglseder S; Eggers C; Moser H; Möslinger D; Freilinger M; Lagler F; Grinzinger S; Reichhardt M; Bittner RE; Schmidt WM; Lex U; Brunner-Krainz M; Quasthoff S; Wanschitz JV
    J Neurol; 2018 Jan; 265(1):159-164. PubMed ID: 29181627
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.
    Vittonatto E; Boschi S; CHIADò-Piat L; Ponzalino V; Bortolani S; Brusa C; Rainero I; Ricci F; Vercelli L; Mongini T
    Acta Myol; 2017 Dec; 36(4):191-198. PubMed ID: 29770361
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Multisystem presentation of Late Onset Pompe Disease: what every consulting neurologist should know.
    Jastrzębska A; Kostera-Pruszczyk A
    Neurol Neurochir Pol; 2023; 57(2):143-150. PubMed ID: 36478346
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Screening for late-onset Pompe disease in Finland.
    Palmio J; Auranen M; Kiuru-Enari S; Löfberg M; Bodamer O; Udd B
    Neuromuscul Disord; 2014 Nov; 24(11):982-5. PubMed ID: 25047669
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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; 15(1):83. PubMed ID: 32248831
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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(1):57. PubMed ID: 29653542
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
    Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.
    Lisi EC; Gillespie S; Laney D; Ali N
    Mol Genet Metab; 2016 Sep; 119(1-2):109-14. PubMed ID: 27591925
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Screening for late-onset Pompe disease in Poland.
    Jastrzębska A; Potulska-Chromik A; Łusakowska A; Jastrzębski M; Lipowska M; Kierdaszuk B; Kamińska A; Kostera-Pruszczyk A
    Acta Neurol Scand; 2019 Oct; 140(4):239-243. PubMed ID: 31125121
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Autophagic vacuolar myopathies: what we have learned from the differential diagnosis of vacuoles in muscle biopsy].
    Zámečník J; Dahmen RA
    Cesk Patol; 2013 Jan; 49(1):39-45. PubMed ID: 23432075
    [TBL] [Abstract][Full Text] [Related]  

  • 37. High-risk screening of late-onset Pompe disease: A different early portrait in China.
    Jiao K; Dong J; Luo S; Yu L; Ke Q; Wang Z; Luan X; Zhang X; Guo J; Chen Y; Li X; Tan S; Qian F; Jiang J; Yu X; Yue D; Liu C; Luo L; Li J; Qu Y; Chen L; Tu J; Sun C; Yan C; Song J; Xi J; Lin J; Lu J; Zhao C; Zhu W; Fang Q
    Front Neurol; 2022; 13():965207. PubMed ID: 36237614
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 262(4):968-78. PubMed ID: 25673129
    [TBL] [Abstract][Full Text] [Related]  

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

  • 40. Screening for Pompe disease in a Portuguese high risk population.
    Almeida V; Conceição I; Fineza I; Coelho T; Silveira F; Santos M; Valverde A; Geraldo A; Maré R; Aguiar TC; Mendonça C; Martins J; Medeiros L; Barroso C; Vieira JP; Moreno T; Negrão L; Dias MS; Lacerda L; Evangelista T
    Neuromuscul Disord; 2017 Aug; 27(8):777-781. PubMed ID: 28554557
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.