BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 30989758)

  • 1. Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.
    Lu Y; Song X; Ji G; Wu H; Li D; Sun S
    Neuropathology; 2019 Jun; 39(3):207-211. PubMed ID: 30989758
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.
    Hackman P; Juvonen V; Sarparanta J; Penttinen M; Aärimaa T; Uusitalo M; Auranen M; Pihko H; Alén R; Junes M; Lönnqvist T; Kalimo H; Udd B
    Muscle Nerve; 2005 Feb; 31(2):199-204. PubMed ID: 15736300
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy.
    Griffin DA; Pozsgai ER; Heller KN; Potter RA; Peterson EL; Rodino-Klapac LR
    Hum Gene Ther; 2021 Apr; 32(7-8):390-404. PubMed ID: 33349138
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family.
    Rivas E; Teijeira S; dos Santos MR; Porrit I; Leturcq F; Fernandez JM; Navarro C
    Acta Myol; 2004 Dec; 23(3):159-62. PubMed ID: 15938574
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
    Babameto-Laku A; Tabaku M; Tashko V; Cikuli M; Mokini V
    Genet Couns; 2011; 22(4):377-83. PubMed ID: 22303798
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
    Bartoli M; Gicquel E; Barrault L; Soheili T; Malissen M; Malissen B; Vincent-Lacaze N; Perez N; Udd B; Danos O; Richard I
    Hum Mol Genet; 2008 May; 17(9):1214-21. PubMed ID: 18252745
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.
    Oliveira Santos M; Coelho P; Roque R; Conceição I
    J Clin Neurosci; 2020 Feb; 72():471-473. PubMed ID: 31836381
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
    Liang WC; Chou PC; Hung CC; Su YN; Kan TM; Chen WZ; Hayashi YK; Nishino I; Jong YJ
    J Neurol Sci; 2016 Mar; 362():304-8. PubMed ID: 26944168
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
    Klinge L; Dekomien G; Aboumousa A; Charlton R; Epplen JT; Barresi R; Bushby K; Straub V
    Neuromuscul Disord; 2008 Dec; 18(12):934-41. PubMed ID: 18996010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
    Diniz G; Tosun Yildirim H; Akinci G; Hazan F; Ozturk A; Yararbas K; Tukun A
    Pediatr Neurol; 2014 Jun; 50(6):640-7. PubMed ID: 24742800
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.
    Tétreault M; Srour M; Allyson J; Thiffault I; Loisel L; Robitaille Y; Bouchard JP; Brais B
    Can J Neurol Sci; 2011 Sep; 38(5):747-52. PubMed ID: 21856579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
    Carotti M; Marsolier J; Soardi M; Bianchini E; Gomiero C; Fecchio C; Henriques SF; Betto R; Sacchetto R; Richard I; Sandonà D
    Hum Mol Genet; 2018 Mar; 27(6):969-984. PubMed ID: 29351619
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
    Xie Z; Hou Y; Yu M; Liu Y; Fan Y; Zhang W; Wang Z; Xiong H; Yuan Y
    Orphanet J Rare Dis; 2019 Feb; 14(1):43. PubMed ID: 30764848
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.
    Gonzalez-Quereda L; Gallardo E; Töpf A; Alonso-Jimenez A; Straub V; Rodriguez MJ; Lleixa C; Illa I; Gallano P; Diaz-Manera J
    Neuromuscul Disord; 2018 Aug; 28(8):633-638. PubMed ID: 30007747
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
    Reddy HM; Hamed SA; Lek M; Mitsuhashi S; Estrella E; Jones MD; Mahoney LJ; Duncan AR; Cho KA; Macarthur DG; Kunkel LM; Kang PB
    Muscle Nerve; 2016 Oct; 54(4):690-5. PubMed ID: 26934379
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
    Mendell JR; Rodino-Klapac LR; Rosales XQ; Coley BD; Galloway G; Lewis S; Malik V; Shilling C; Byrne BJ; Conlon T; Campbell KJ; Bremer WG; Taylor LE; Flanigan KM; Gastier-Foster JM; Astbury C; Kota J; Sahenk Z; Walker CM; Clark KR
    Ann Neurol; 2010 Nov; 68(5):629-38. PubMed ID: 21031578
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.
    Mojbafan M; Nilipour Y; Tonekaboni SH; Bagheri SD; Bagherian H; Sharifi Z; Zeinali Z; Tavakkoly-Bazzaz J; Zeinali S
    J Neurogenet; 2016 Mar; 30(1):1-4. PubMed ID: 27276190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.
    Mickelson JR; Minor KM; Guo LT; Friedenberg SG; Cullen JN; Ciavarella A; Hambrook LE; Brenner KM; Helmond SE; Marks SL; Shelton GD
    Skelet Muscle; 2021 Jan; 11(1):2. PubMed ID: 33407862
    [TBL] [Abstract][Full Text] [Related]  

  • 19. How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
    Verebi C; Caumes R; Chantot-Bastaraud S; Deburgrave N; Orhant L; Vaucouleur N; Cuisset L; Bienvenu T; Leturcq F; Nectoux J
    Neuromuscul Disord; 2023 May; 33(5):367-370. PubMed ID: 36996638
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
    Mojbafan M; Bahmani R; Bagheri SD; Sharifi Z; Zeinali S
    Orphanet J Rare Dis; 2020 Jan; 15(1):14. PubMed ID: 31937337
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.