177 related articles for article (PubMed ID: 36454905)
21. 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]
22. Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Lu QL; Holbrook MC; Cataldi MP; Blaeser A
J Neuromuscul Dis; 2024; 11(2):275-284. PubMed ID: 38277301
[TBL] [Abstract][Full Text] [Related]
23. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
Chan YM; Keramaris-Vrantsis E; Lidov HG; Norton JH; Zinchenko N; Gruber HE; Thresher R; Blake DJ; Ashar J; Rosenfeld J; Lu QL
Hum Mol Genet; 2010 Oct; 19(20):3995-4006. PubMed ID: 20675713
[TBL] [Abstract][Full Text] [Related]
24. Zebrafish models for human FKRP muscular dystrophies.
Kawahara G; Guyon JR; Nakamura Y; Kunkel LM
Hum Mol Genet; 2010 Feb; 19(4):623-33. PubMed ID: 19955119
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W; van Scherpenzeel M; Alsady M; Riemersma M; Hermans E; Kragt E; Tasca G; Kamsteeg EJ; Pennings M; van Beusekom E; Vermeulen JR; van Bokhoven H; Voermans NC; Willemsen MA; Ashikov A; Lefeber DJ
Clin Chem; 2019 Oct; 65(10):1295-1306. PubMed ID: 31375477
[TBL] [Abstract][Full Text] [Related]
27. Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.
Wu B; Shah SN; Lu P; Richardson SM; Bollinger LE; Blaeser A; Madden KL; Sun Y; Luckie TM; Cox MD; Sparks S; Harper AD; Lu QL
Am J Pathol; 2016 Jun; 186(6):1635-48. PubMed ID: 27109613
[TBL] [Abstract][Full Text] [Related]
28. Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i.
Maricelli JW; Lu QL; Lin DC; Rodgers BD
PLoS One; 2016; 11(9):e0161984. PubMed ID: 27627455
[TBL] [Abstract][Full Text] [Related]
29. A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.
Krag TO; Vissing J
J Neuropathol Exp Neurol; 2015 Dec; 74(12):1137-46. PubMed ID: 26574668
[TBL] [Abstract][Full Text] [Related]
30. Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Hagedorn JL; Dunn TM; Bhattarai S; Stephan C; Mathews KD; Pfeifer W; Drack AV
Doc Ophthalmol; 2023 Feb; 146(1):7-16. PubMed ID: 36399172
[TBL] [Abstract][Full Text] [Related]
31. Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].
Wang CH; Chan YM; Tang RH; Xiao B; Lu P; Keramaris-Vrantsis E; Zheng H; Qiao C; Jiang J; Li J; Ma HI; Lu Q; Xiao X
Am J Pathol; 2011 Jan; 178(1):261-72. PubMed ID: 21224063
[TBL] [Abstract][Full Text] [Related]
32. Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.
Yu Q; Morales M; Li N; Fritz AG; Ruobing R; Blaeser A; Francois E; Lu QL; Nagaraju K; Spurney CF
Skelet Muscle; 2018 Apr; 8(1):13. PubMed ID: 29625576
[TBL] [Abstract][Full Text] [Related]
33. Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Blaeser A; Keramaris E; Chan YM; Sparks S; Cowley D; Xiao X; Lu QL
Hum Genet; 2013 Aug; 132(8):923-34. PubMed ID: 23591631
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Inhibitory machinery for the functional dystroglycan glycosylation.
Kondo Y; Okajima T
J Biochem; 2023 Apr; 173(5):333-335. PubMed ID: 36760122
[TBL] [Abstract][Full Text] [Related]
36. Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy.
Leung DG; Bocchieri AE; Ahlawat S; Jacobs MA; Parekh VS; Braverman V; Summerton K; Mansour J; Bibat G; Morris C; Marraffino S; Wagner KR
BMC Neurol; 2020 May; 20(1):196. PubMed ID: 32429923
[TBL] [Abstract][Full Text] [Related]
37. Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the
Xie Z; Xiao J; Zheng Y; Wang Z; Yuan Y
Biomed Res Int; 2018; 2018():3710814. PubMed ID: 30003095
[TBL] [Abstract][Full Text] [Related]
38. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB; Schreiber-Katz O; Rafferty K; Robertson A; Topf A; Willis TA; Heidemann M; Thiele S; Bindoff L; Laurent JP; Lochmüller H; Mathews K; Mitchell C; Stevenson JH; Vissing J; Woods L; Walter MC; Straub V
Ann Clin Transl Neurol; 2020 May; 7(5):757-766. PubMed ID: 32342672
[TBL] [Abstract][Full Text] [Related]
39. Oral ribose supplementation in dystroglycanopathy: A single case study.
Thewissen RMJ; Post MA; Maas DM; Veizaj R; Wagenaar I; Alsady M; Kools J; Bouman K; Zweers H; Meregalli PG; van der Kooi AJ; van Doorn PA; Groothuis JT; Lefeber DJ; Voermans NC
JIMD Rep; 2024 May; 65(3):171-181. PubMed ID: 38736632
[TBL] [Abstract][Full Text] [Related]
40. Functional requirements for fukutin-related protein in the Golgi apparatus.
Esapa CT; Benson MA; Schröder JE; Martin-Rendon E; Brockington M; Brown SC; Muntoni F; Kröger S; Blake DJ
Hum Mol Genet; 2002 Dec; 11(26):3319-31. PubMed ID: 12471058
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
