BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

415 related articles for article (PubMed ID: 16344347)

  • 1. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.
    Boito CA; Melacini P; Vianello A; Prandini P; Gavassini BF; Bagattin A; Siciliano G; Angelini C; Pegoraro E
    Arch Neurol; 2005 Dec; 62(12):1894-9. PubMed ID: 16344347
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.
    Alhamidi M; Brox V; Stensland E; Liset M; Lindal S; Nilssen Ø
    Neuromuscul Disord; 2017 Jul; 27(7):619-626. PubMed ID: 28479227
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.
    Bourteel H; Vermersch P; Cuisset JM; Maurage CA; Laforet P; Richard P; Stojkovic T
    J Neurol Neurosurg Psychiatry; 2009 Dec; 80(12):1405-8. PubMed ID: 19917824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
    Awano H; Saito Y; Shimizu M; Sekiguchi K; Niijima S; Matsuo M; Maegaki Y; Izumi I; Kikuchi C; Ishibashi M; Okazaki T; Komaki H; Iijima K; Nishino I
    J Clin Neurosci; 2021 Oct; 92():215-221. PubMed ID: 34509255
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
    Wang DN; Wang ZQ; Chen YQ; Xu GR; Lin MT; Wang N
    Int J Neurosci; 2018 Mar; 128(3):199-207. PubMed ID: 28931339
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].
    Bourteel H; Stojkovic T; Cuisset JM; Maurage CA; Laforet P; Richard P; Vermersch P
    Rev Neurol (Paris); 2007 Feb; 163(2):189-96. PubMed ID: 17351538
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.
    Belhassen I; Menassa R; Sakka S; Michel-Calemard L; Streichenberger N; Ayed DB; Bouattour N; Dammak M; Mhiri C
    Acta Myol; 2023; 42(4):106-112. PubMed ID: 38406381
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
    Brockington M; Yuva Y; Prandini P; Brown SC; Torelli S; Benson MA; Herrmann R; Anderson LV; Bashir R; Burgunder JM; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry CA; Bushby K; Voit T; Blake DJ; Muntoni F
    Hum Mol Genet; 2001 Dec; 10(25):2851-9. PubMed ID: 11741828
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
    Liang WC; Hayashi YK; Ogawa M; Wang CH; Huang WT; Nishino I; Jong YJ
    Neuromuscul Disord; 2013 Aug; 23(8):675-81. PubMed ID: 23800702
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).
    Hong D; Zhang W; Wang W; Wang Z; Yuan Y
    J Clin Neurosci; 2011 Apr; 18(4):494-9. PubMed ID: 21296577
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
    Serafini PR; Feyder MJ; Hightower RM; Garcia-Perez D; Vieira NM; Lek A; Gibbs DE; Moukha-Chafiq O; Augelli-Szafran CE; Kawahara G; Widrick JJ; Kunkel LM; Alexander MS
    JCI Insight; 2018 Sep; 3(18):. PubMed ID: 30232282
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
    Puckett RL; Moore SA; Winder TL; Willer T; Romansky SG; Covault KK; Campbell KP; Abdenur JE
    Neuromuscul Disord; 2009 May; 19(5):352-6. PubMed ID: 19342235
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I.
    Frattini P; Villa C; De Santis F; Meregalli M; Belicchi M; Erratico S; Bella P; Raimondi MT; Lu Q; Torrente Y
    Hum Mol Genet; 2017 Oct; 26(19):3682-3698. PubMed ID: 28666318
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.
    Margeta M; Connolly AM; Winder TL; Pestronk A; Moore SA
    Muscle Nerve; 2009 Nov; 40(5):883-9. PubMed ID: 19705481
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
    Brun BN; Mockler SR; Laubscher KM; Stephan CM; Collison JA; Zimmerman MB; Mathews KD
    J Child Neurol; 2017 Feb; 32(2):204-209. PubMed ID: 27872178
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
    Vieira NM; Schlesinger D; de Paula F; Vainzof M; Zatz M
    Neuromuscul Disord; 2006 Dec; 16(12):870-3. PubMed ID: 17113772
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.
    Qiao C; Wang CH; Zhao C; Lu P; Awano H; Xiao B; Li J; Yuan Z; Dai Y; Martin CB; Li J; Lu Q; Xiao X
    Mol Ther; 2014 Nov; 22(11):1890-9. PubMed ID: 25048216
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].
    Villar Quiles RN; Richard I; Bouchet-Seraphin C; Stojkovic T
    Med Sci (Paris); 2020 Dec; 36 Hors série n° 2():28-33. PubMed ID: 33427633
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
    Unnikrishnan G; Polavarapu K; Bardhan M; Nashi S; Vengalil S; Preethish-Kumar V; Valasani RK; Huddar A; Nishadham V; Nandeesh BN; Nalini A
    J Neuromuscul Dis; 2023; 10(4):615-626. PubMed ID: 37154180
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.