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 *

116 related articles for article (PubMed ID: 30126629)

  • 1. Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
    Fecarotta S; Gragnaniello V; Della Casa R; Romano A; Raiano E; Torella A; Savarese M; Nigro V; Strisciuglio P; Andria G; Parenti G
    Neuromuscul Disord; 2018 Nov; 28(11):956-960. PubMed ID: 30126629
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
    Raphael AR; Couthouis J; Sakamuri S; Siskind C; Vogel H; Day JW; Gitler AD
    Brain Res; 2014 Aug; 1575():66-71. PubMed ID: 24780531
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
    Belaya K; Rodríguez Cruz PM; Liu WW; Maxwell S; McGowan S; Farrugia ME; Petty R; Walls TJ; Sedghi M; Basiri K; Yue WW; Sarkozy A; Bertoli M; Pitt M; Kennett R; Schaefer A; Bushby K; Parton M; Lochmüller H; Palace J; Muntoni F; Beeson D
    Brain; 2015 Sep; 138(Pt 9):2493-504. PubMed ID: 26133662
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
    Jensen BS; Willer T; Saade DN; Cox MO; Mozaffar T; Scavina M; Stefans VA; Winder TL; Campbell KP; Moore SA; Mathews KD
    Hum Mutat; 2015 Dec; 36(12):1159-63. PubMed ID: 26310427
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
    Astrea G; Romano A; Angelini C; Antozzi CG; Barresi R; Battini R; Battisti C; Bertini E; Bruno C; Cassandrini D; Fanin M; Fattori F; Fiorillo C; Guerrini R; Maggi L; Mercuri E; Morani F; Mora M; Moro F; Pezzini I; Picillo E; Pinelli M; Politano L; Rubegni A; Sanseverino W; Savarese M; Striano P; Torella A; Trevisan CP; Trovato R; Zaraieva I; Muntoni F; Nigro V; D'Amico A; Santorelli FM;
    Orphanet J Rare Dis; 2018 Sep; 13(1):170. PubMed ID: 30257713
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
    Czeschik JC; Hehr U; Hartmann B; Lüdecke HJ; Rosenbaum T; Schweiger B; Wieczorek D
    Eur J Med Genet; 2013 Dec; 56(12):689-94. PubMed ID: 24120487
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mobility shift of beta-dystroglycan as a marker of
    Sarkozy A; Torelli S; Mein R; Henderson M; Phadke R; Feng L; Sewry C; Ala P; Yau M; Bertoli M; Willis T; Hammans S; Manzur A; Sframeli M; Norwood F; Rakowicz W; Radunovic A; Vaidya SS; Parton M; Walker M; Marino S; Offiah C; Farrugia ME; Mamutse G; Marini-Bettolo C; Wraige E; Beeson D; Lochmüller H; Straub V; Bushby K; Barresi R; Muntoni F
    J Neurol Neurosurg Psychiatry; 2018 Jul; 89(7):762-768. PubMed ID: 29437916
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
    Borisovna KO; Yurievna KA; Yurievich TK; Igorevna KO; Olegovich KD; Igorevna DA; Timofeevna BT; Vyacheslavovna ZN; Ivanovna SE; Alekseevich SP; Vladimirovich IV
    BMC Pediatr; 2019 Apr; 19(1):98. PubMed ID: 30961548
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
    Zaum AK; Kolokotronis K; Kress W; Goebel HH; Rost S; Seeger J
    Neuromuscul Disord; 2018 Aug; 28(8):671-674. PubMed ID: 30017359
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GDP-Mannose Pyrophosphorylase B (
    Chompoopong P; Milone M
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for α-Dystroglycanopathies.
    Gumlaw N; Sevigny LM; Zhao H; Luo Z; Bangari DS; Masterjohn E; Chen Y; McDonald B; Magnay M; Travaline T; Yoshida-Moriguchi T; Fan W; Reczek D; Stefano JE; Qiu H; Beil C; Lange C; Rao E; Lukason M; Barry E; Brondyk WH; Zhu Y; Cheng SH
    Mol Ther; 2020 Feb; 28(2):664-676. PubMed ID: 31843448
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
    Balcin H; Palmio J; Penttilä S; Nennesmo I; Lindfors M; Solders G; Udd B
    Neuromuscul Disord; 2017 Jul; 27(7):627-630. PubMed ID: 28478914
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Recent Advances in α-dystroglycanopathy].
    Kuga A; Kanagawa M; Toda T
    Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
    Taniguchi-Ikeda M; Morioka I; Iijima K; Toda T
    Mol Aspects Med; 2016 Oct; 51():115-24. PubMed ID: 27421908
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
    Rodríguez Cruz PM; Belaya K; Basiri K; Sedghi M; Farrugia ME; Holton JL; Liu WW; Maxwell S; Petty R; Walls TJ; Kennett R; Pitt M; Sarkozy A; Parton M; Lochmüller H; Muntoni F; Palace J; Beeson D
    J Neurol Neurosurg Psychiatry; 2016 Aug; 87(8):802-9. PubMed ID: 27147698
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the phenotype of GMPPB mutations.
    Cabrera-Serrano M; Ghaoui R; Ravenscroft G; Johnsen RD; Davis MR; Corbett A; Reddel S; Sue CM; Liang C; Waddell LB; Kaur S; Lek M; North KN; MacArthur DG; Lamont PJ; Clarke NF; Laing NG
    Brain; 2015 Apr; 138(Pt 4):836-44. PubMed ID: 25681410
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
    Muntoni F; Torelli S; Wells DJ; Brown SC
    Curr Opin Neurol; 2011 Oct; 24(5):437-42. PubMed ID: 21825985
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
    Tian WT; Zhou HY; Zhan FX; Zhu ZY; Yang J; Chen SD; Luan XH; Cao L
    Ann Clin Transl Neurol; 2019 Jun; 6(6):1062-1071. PubMed ID: 31211170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
    Roscioli T; Kamsteeg EJ; Buysse K; Maystadt I; van Reeuwijk J; van den Elzen C; van Beusekom E; Riemersma M; Pfundt R; Vissers LE; Schraders M; Altunoglu U; Buckley MF; Brunner HG; Grisart B; Zhou H; Veltman JA; Gilissen C; Mancini GM; Delrée P; Willemsen MA; Ramadža DP; Chitayat D; Bennett C; Sheridan E; Peeters EA; Tan-Sindhunata GM; de Die-Smulders CE; Devriendt K; Kayserili H; El-Hashash OA; Stemple DL; Lefeber DJ; Lin YY; van Bokhoven H
    Nat Genet; 2012 May; 44(5):581-5. PubMed ID: 22522421
    [TBL] [Abstract][Full Text] [Related]  

  • 20. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
    Maroofian R; Riemersma M; Jae LT; Zhianabed N; Willemsen MH; Wissink-Lindhout WM; Willemsen MA; de Brouwer APM; Mehrjardi MYV; Ashrafi MR; Kusters B; Kleefstra T; Jamshidi Y; Nasseri M; Pfundt R; Brummelkamp TR; Abbaszadegan MR; Lefeber DJ; van Bokhoven H
    Genome Med; 2017 Dec; 9(1):118. PubMed ID: 29273094
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.