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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

140 related items for PubMed ID: 8757044

  • 1. Diagnosis of McArdle's disease by molecular genetic analysis of blood.
    el-Schahawi M, Tsujino S, Shanske S, DiMauro S.
    Neurology; 1996 Aug; 47(2):579-80. PubMed ID: 8757044
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. HyperCKemia as the only sign of McArdle's disease in a child.
    Bruno C, Bertini E, Santorelli FM, DiMauro S.
    J Child Neurol; 2000 Feb; 15(2):137-8. PubMed ID: 10695902
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
    Bruno C, Lanzillo R, Biedi C, Iadicicco L, Minetti C, Santoro L.
    Neuromuscul Disord; 2002 Jun; 12(5):498-500. PubMed ID: 12031624
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
    Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S.
    Hum Mutat; 1995 Jun; 6(3):276-7. PubMed ID: 8535454
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
    Hadjigeorgiou GM, Papadimitriou A, Musumeci O, Paterakis K, Flabouriari K, Shanske S, DiMauro S.
    J Neurol Sci; 2002 Feb 15; 194(1):83-6. PubMed ID: 11809171
    [Abstract] [Full Text] [Related]

  • 16. A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.
    Rubio JC, Martín MA, Campos Y, Cabello A, Arenas J.
    Neuromuscul Disord; 2000 Feb 15; 10(2):138-40. PubMed ID: 10714589
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
    Bartram C, Edwards RH, Clague J, Beynon RJ.
    Hum Mol Genet; 1993 Aug 15; 2(8):1291-3. PubMed ID: 8401511
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
    Hadjigeorgiou GM, Sadeh M, Musumeci O, Dabby R, De Girolami L, Naini A, Papadimitriou A, Shanske S, DiMauro S.
    Neuromuscul Disord; 2002 Nov 15; 12(9):824-7. PubMed ID: 12398832
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.