212 related articles for article (PubMed ID: 35666680)
1. Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA; Rossi D; Galli L; Catallo MR; Pancheri E; Marchetto G; Cisterna B; Malatesta M; Pierantozzi E; Tonin P; Sorrentino V
Eur J Neurosci; 2022 Aug; 56(3):4214-4223. PubMed ID: 35666680
[TBL] [Abstract][Full Text] [Related]
2. Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
Rueffert H; Wehner M; Ogunlade V; Meinecke C; Schober R
Clin Neuropathol; 2009; 28(6):409-16. PubMed ID: 19919814
[TBL] [Abstract][Full Text] [Related]
3. Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
Treves S; Jungbluth H; Muntoni F; Zorzato F
Curr Opin Pharmacol; 2008 Jun; 8(3):319-26. PubMed ID: 18313359
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
McCarthy TV; Quane KA; Lynch PJ
Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202
[TBL] [Abstract][Full Text] [Related]
7. Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.
Klein A; Jungbluth H; Clement E; Lillis S; Abbs S; Munot P; Pane M; Wraige E; Schara U; Straub V; Mercuri E; Muntoni F
Arch Neurol; 2011 Sep; 68(9):1171-9. PubMed ID: 21911697
[TBL] [Abstract][Full Text] [Related]
8. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Dowling JJ; Lillis S; Amburgey K; Zhou H; Al-Sarraj S; Buk SJ; Wraige E; Chow G; Abbs S; Leber S; Lachlan K; Baralle D; Taylor A; Sewry C; Muntoni F; Jungbluth H
Neuromuscul Disord; 2011 Jun; 21(6):420-7. PubMed ID: 21514828
[TBL] [Abstract][Full Text] [Related]
9. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Monnier N; Romero NB; Lerale J; Nivoche Y; Qi D; MacLennan DH; Fardeau M; Lunardi J
Hum Mol Genet; 2000 Nov; 9(18):2599-608. PubMed ID: 11063719
[TBL] [Abstract][Full Text] [Related]
10. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S; Ramos-Platt L; Gilles FH; Chan WM; Andrews C; De Girolami U; Demer J; Engle EC
JAMA Ophthalmol; 2013 Dec; 131(12):1532-40. PubMed ID: 24091937
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
Taylor A; Lachlan K; Manners RM; Lotery AJ
J Clin Neurosci; 2012 Jan; 19(1):65-70. PubMed ID: 22030266
[TBL] [Abstract][Full Text] [Related]
13. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Jungbluth H; Zhou H; Sewry CA; Robb S; Treves S; Bitoun M; Guicheney P; Buj-Bello A; Bönnemann C; Muntoni F
Neuromuscul Disord; 2007 Apr; 17(4):338-45. PubMed ID: 17376685
[TBL] [Abstract][Full Text] [Related]
14. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
Rueffert H; Olthoff D; Deutrich C; Meinecke CD; Froster UG
Acta Anaesthesiol Scand; 2002 Jul; 46(6):692-8. PubMed ID: 12059893
[TBL] [Abstract][Full Text] [Related]
15. Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.
Gomez AC; Holford TW; Yamaguchi N
Am J Physiol Cell Physiol; 2016 Nov; 311(5):C749-C757. PubMed ID: 27558158
[TBL] [Abstract][Full Text] [Related]
16. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O; Moreno CAM; Malfatti E; Donkervoort S; Böhm J; Guimarães JB; Foley AR; Mohassel P; Dastgir J; Bharucha-Goebel DX; Monges S; Lubieniecki F; Collins J; Medne L; Santi M; Yum S; Banwell B; Salort-Campana E; Rendu J; Fauré J; Yis U; Eymard B; Cheraud C; Schneider R; Thompson J; Lornage X; Mesrob L; Lechner D; Boland A; Deleuze JF; Reed UC; Oliveira ASB; Biancalana V; Romero NB; Bönnemann CG; Laporte J; Zanoteli E
Neuromuscul Disord; 2017 Nov; 27(11):975-985. PubMed ID: 28818389
[TBL] [Abstract][Full Text] [Related]
17. Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
Gillies RL; Bjorksten AR; Davis M; Du Sart D
Anaesth Intensive Care; 2008 May; 36(3):391-403. PubMed ID: 18564801
[TBL] [Abstract][Full Text] [Related]
18. North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
Sambuughin N; Sei Y; Gallagher KL; Wyre HW; Madsen D; Nelson TE; Fletcher JE; Rosenberg H; Muldoon SM
Anesthesiology; 2001 Sep; 95(3):594-9. PubMed ID: 11575529
[TBL] [Abstract][Full Text] [Related]
19. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
Ibarra M CA; Wu S; Murayama K; Minami N; Ichihara Y; Kikuchi H; Noguchi S; Hayashi YK; Ochiai R; Nishino I
Anesthesiology; 2006 Jun; 104(6):1146-54. PubMed ID: 16732084
[TBL] [Abstract][Full Text] [Related]
20. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
Vukcevic M; Broman M; Islander G; Bodelsson M; Ranklev-Twetman E; Müller CR; Treves S
Anesth Analg; 2010 Jul; 111(1):185-90. PubMed ID: 20142353
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
