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 *

160 related articles for article (PubMed ID: 29437916)

  • 1. 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]  

  • 2. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
    Carss KJ; Stevens E; Foley AR; Cirak S; Riemersma M; Torelli S; Hoischen A; Willer T; van Scherpenzeel M; Moore SA; Messina S; Bertini E; Bönnemann CG; Abdenur JE; Grosmann CM; Kesari A; Punetha J; Quinlivan R; Waddell LB; Young HK; Wraige E; Yau S; Brodd L; Feng L; Sewry C; MacArthur DG; North KN; Hoffman E; Stemple DL; Hurles ME; van Bokhoven H; Campbell KP; Lefeber DJ; ; Lin YY; Muntoni F
    Am J Hum Genet; 2013 Jul; 93(1):29-41. PubMed ID: 23768512
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

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

  • 6. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S; Foley AR; Herrmann R; Willer T; Yau S; Stevens E; Torelli S; Brodd L; Kamynina A; Vondracek P; Roper H; Longman C; Korinthenberg R; Marrosu G; Nürnberg P; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
    Magri F; Colombo I; Del Bo R; Previtali S; Brusa R; Ciscato P; Scarlato M; Ronchi D; D'Angelo MG; Corti S; Moggio M; Bresolin N; Comi GP
    BMC Neurol; 2015 Sep; 15():172. PubMed ID: 26404900
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
    Montagnese F; Klupp E; Karampinos DC; Biskup S; Gläser D; Kirschke JS; Schoser B
    Muscle Nerve; 2017 Aug; 56(2):334-340. PubMed ID: 27874200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
    Larson AA; Baker PR; Milev MP; Press CA; Sokol RJ; Cox MO; Lekostaj JK; Stence AA; Bossler AD; Mueller JM; Prematilake K; Tadjo TF; Williams CA; Sacher M; Moore SA
    Skelet Muscle; 2018 May; 8(1):17. PubMed ID: 29855340
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
    Koehler K; Malik M; Mahmood S; Gießelmann S; Beetz C; Hennings JC; Huebner AK; Grahn A; Reunert J; Nürnberg G; Thiele H; Altmüller J; Nürnberg P; Mumtaz R; Babovic-Vuksanovic D; Basel-Vanagaite L; Borck G; Brämswig J; Mühlenberg R; Sarda P; Sikiric A; Anyane-Yeboa K; Zeharia A; Ahmad A; Coubes C; Wada Y; Marquardt T; Vanderschaeghe D; Van Schaftingen E; Kurth I; Huebner A; Hübner CA
    Am J Hum Genet; 2013 Oct; 93(4):727-34. PubMed ID: 24035193
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
    Mercuri E; Messina S; Bruno C; Mora M; Pegoraro E; Comi GP; D'Amico A; Aiello C; Biancheri R; Berardinelli A; Boffi P; Cassandrini D; Laverda A; Moggio M; Morandi L; Moroni I; Pane M; Pezzani R; Pichiecchio A; Pini A; Minetti C; Mongini T; Mottarelli E; Ricci E; Ruggieri A; Saredi S; Scuderi C; Tessa A; Toscano A; Tortorella G; Trevisan CP; Uggetti C; Vasco G; Santorelli FM; Bertini E
    Neurology; 2009 May; 72(21):1802-9. PubMed ID: 19299310
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
    Franzka P; Henze H; Jung MJ; Schüler SC; Mittag S; Biskup K; Liebmann L; Kentache T; Morales J; Martínez B; Katona I; Herrmann T; Huebner AK; Hennings JC; Groth S; Gresing L; Horstkorte R; Marquardt T; Weis J; Kaether C; Mutchinick OM; Ori A; Huber O; Blanchard V; von Maltzahn J; Hübner CA
    J Clin Invest; 2021 May; 131(9):. PubMed ID: 33755596
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
    van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
    J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.