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5. 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]
6. Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Jensen SM; Müller KI; Mellgren SI; Bindoff LA; Rasmussen M; Ørstavik K; Jonsrud C; Tveten K; Nilssen Ø; Van Ghelue M; Arntzen KA Neuromuscul Disord; 2023 Feb; 33(2):119-132. PubMed ID: 36522254 [TBL] [Abstract][Full Text] [Related]
7. Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Jensen S; Abeler K; Friborg O; Rosner A; Olsborg C; Mellgren SI; Müller KI; Rosenberger AD; Vold ML; Arntzen KA J Neurol; 2024 Jan; 271(1):274-288. PubMed ID: 37695533 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study. Doody A; Alfano L; Diaz-Manera J; Lowes L; Mozaffar T; Mathews KD; Weihl CC; Wicklund M; Hung M; Statland J; Johnson NE; BMC Neurol; 2024 Mar; 24(1):96. PubMed ID: 38491364 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. Jensen SM; Friborg O; Mellgren SI; Müller KI; Bergvik S; Arntzen KA J Neuromuscul Dis; 2024; 11(1):59-74. PubMed ID: 37927270 [TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Ten Dam L; Frankhuizen WS; Linssen WHJP; Straathof CS; Niks EH; Faber K; Fock A; Kuks JB; Brusse E; de Coo R; Voermans N; Verrips A; Hoogendijk JE; van der Pol L; Westra D; de Visser M; van der Kooi AJ; Ginjaar I Clin Genet; 2019 Aug; 96(2):126-133. PubMed ID: 30919934 [TBL] [Abstract][Full Text] [Related]
14. Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in Willis E; Moore SA; Cox MO; Stefans V; Aravindhan A; Gokden M; Veerapandiyan A Child Neurol Open; 2022; 9():2329048X221097518. PubMed ID: 35557983 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Protein homeostasis in LGMDR9 (LGMD2I) - The role of ubiquitin-proteasome and autophagy-lysosomal system. Franekova V; Storjord HI; Leivseth G; Nilssen Ø Neuropathol Appl Neurobiol; 2021 Jun; 47(4):519-531. PubMed ID: 33338270 [TBL] [Abstract][Full Text] [Related]
17. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Liang WC; Jong YJ; Wang CH; Wang CH; Tian X; Chen WZ; Kan TM; Minami N; Nishino I; Wong LC Orphanet J Rare Dis; 2020 Jun; 15(1):160. PubMed ID: 32576226 [TBL] [Abstract][Full Text] [Related]
19. Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies. Ortiz-Cordero C; Bincoletto C; Dhoke NR; Selvaraj S; Magli A; Zhou H; Kim DH; Bang AG; Perlingeiro RCR Stem Cell Reports; 2021 Nov; 16(11):2752-2767. PubMed ID: 34653404 [TBL] [Abstract][Full Text] [Related]
20. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. Brown SC; Fernandez-Fuente M; Muntoni F; Vissing J J Neuropathol Exp Neurol; 2020 Dec; 79(12):1257-1264. PubMed ID: 33051673 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]