150 related articles for article (PubMed ID: 17365175)
21. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.
Bharucha-Goebel DX; Santi M; Medne L; Zukosky K; Dastgir J; Shieh PB; Winder T; Tennekoon G; Finkel RS; Dowling JJ; Monnier N; Bönnemann CG
Neurology; 2013 Apr; 80(17):1584-9. PubMed ID: 23553484
[TBL] [Abstract][Full Text] [Related]
22. Core myopathies.
Jungbluth H; Sewry CA; Muntoni F
Semin Pediatr Neurol; 2011 Dec; 18(4):239-49. PubMed ID: 22172419
[TBL] [Abstract][Full Text] [Related]
23. Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A; Chernorudskiy A; Arbogast S; Varone E; Villar-Quiles RN; Pozzer D; Moulin M; Fumagalli S; Cabet E; Dudhal S; De Simoni MG; Denis R; Vadrot N; Dill C; Giovarelli M; Szweda L; De Palma C; Pinton P; Giorgi C; Viscomi C; Clementi E; Missiroli S; Boncompagni S; Zito E; Ferreiro A
Cell Death Differ; 2021 Jan; 28(1):123-138. PubMed ID: 32661288
[TBL] [Abstract][Full Text] [Related]
24. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
Zhou H; Brockington M; Jungbluth H; Monk D; Stanier P; Sewry CA; Moore GE; Muntoni F
Am J Hum Genet; 2006 Nov; 79(5):859-68. PubMed ID: 17033962
[TBL] [Abstract][Full Text] [Related]
25. Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
Arbogast S; Beuvin M; Fraysse B; Zhou H; Muntoni F; Ferreiro A
Ann Neurol; 2009 Jun; 65(6):677-86. PubMed ID: 19557870
[TBL] [Abstract][Full Text] [Related]
26. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Ferreiro A; Ceuterick-de Groote C; Marks JJ; Goemans N; Schreiber G; Hanefeld F; Fardeau M; Martin JJ; Goebel HH; Richard P; Guicheney P; Bönnemann CG
Ann Neurol; 2004 May; 55(5):676-86. PubMed ID: 15122708
[TBL] [Abstract][Full Text] [Related]
27. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
Schara U; Kress W; Bönnemann CG; Breitbach-Faller N; Korenke CG; Schreiber G; Stoetter M; Ferreiro A; von der Hagen M
Eur J Paediatr Neurol; 2008 May; 12(3):224-30. PubMed ID: 17951086
[TBL] [Abstract][Full Text] [Related]
28. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.
Helbling DC; Mendoza D; McCarrier J; Vanden Avond MA; Harmelink MM; Barkhaus PE; Basel D; Lawlor MW
J Neuropathol Exp Neurol; 2019 Mar; 78(3):283-287. PubMed ID: 30715496
[TBL] [Abstract][Full Text] [Related]
29. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA; Todd JJ; Meilleur KG
Neurotherapeutics; 2018 Oct; 15(4):885-899. PubMed ID: 30406384
[TBL] [Abstract][Full Text] [Related]
30. Triadopathies: an emerging class of skeletal muscle diseases.
Dowling JJ; Lawlor MW; Dirksen RT
Neurotherapeutics; 2014 Oct; 11(4):773-85. PubMed ID: 25168790
[TBL] [Abstract][Full Text] [Related]
31. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Løseth S; Voermans NC; Torbergsen T; Lillis S; Jonsrud C; Lindal S; Kamsteeg EJ; Lammens M; Broman M; Dekomien G; Maddison P; Muntoni F; Sewry C; Radunovic A; de Visser M; Straub V; van Engelen B; Jungbluth H
J Neurol; 2013 Jun; 260(6):1504-10. PubMed ID: 23329375
[TBL] [Abstract][Full Text] [Related]
32. Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
Rederstorff M; Castets P; Arbogast S; Lainé J; Vassilopoulos S; Beuvin M; Dubourg O; Vignaud A; Ferry A; Krol A; Allamand V; Guicheney P; Ferreiro A; Lescure A
PLoS One; 2011; 6(8):e23094. PubMed ID: 21858002
[TBL] [Abstract][Full Text] [Related]
33. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H; Jungbluth H; Sewry CA; Feng L; Bertini E; Bushby K; Straub V; Roper H; Rose MR; Brockington M; Kinali M; Manzur A; Robb S; Appleton R; Messina S; D'Amico A; Quinlivan R; Swash M; Müller CR; Brown S; Treves S; Muntoni F
Brain; 2007 Aug; 130(Pt 8):2024-36. PubMed ID: 17483490
[TBL] [Abstract][Full Text] [Related]
34. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
[TBL] [Abstract][Full Text] [Related]
35. Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Suman M; Sharpe JA; Bentham RB; Kotiadis VN; Menegollo M; Pignataro V; Molgó J; Muntoni F; Duchen MR; Pegoraro E; Szabadkai G
Hum Mol Genet; 2018 Jul; 27(13):2367-2382. PubMed ID: 29701772
[TBL] [Abstract][Full Text] [Related]
36. Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R; Carpenter D; Shaw MA; Halsall J; Hopkins P
Hum Mutat; 2006 Oct; 27(10):977-89. PubMed ID: 16917943
[TBL] [Abstract][Full Text] [Related]
37. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
Dowling JJ; Arbogast S; Hur J; Nelson DD; McEvoy A; Waugh T; Marty I; Lunardi J; Brooks SV; Kuwada JY; Ferreiro A
Brain; 2012 Apr; 135(Pt 4):1115-27. PubMed ID: 22418739
[TBL] [Abstract][Full Text] [Related]
38. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G; Kadhim H; Abramowicz M; Mavroudakis N; Monnier N; Lunardi J
Neuromuscul Disord; 2015 May; 25(5):397-402. PubMed ID: 25747005
[TBL] [Abstract][Full Text] [Related]
39. Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
Hwang JH; Zorzato F; Clarke NF; Treves S
Trends Mol Med; 2012 Nov; 18(11):644-57. PubMed ID: 23069638
[TBL] [Abstract][Full Text] [Related]
40. Core myopathies and risk of malignant hyperthermia.
Klingler W; Rueffert H; Lehmann-Horn F; Girard T; Hopkins PM
Anesth Analg; 2009 Oct; 109(4):1167-73. PubMed ID: 19762745
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]