341 related articles for article (PubMed ID: 19734047)
1. First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.
Monnier N; Laquerrière A; Marret S; Goldenberg A; Marty I; Nivoche Y; Lunardi J
Neuromuscul Disord; 2009 Oct; 19(10):680-4. PubMed ID: 19734047
[TBL] [Abstract][Full Text] [Related]
2. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N; Marty I; Faure J; Castiglioni C; Desnuelle C; Sacconi S; Estournet B; Ferreiro A; Romero N; Laquerriere A; Lazaro L; Martin JJ; Morava E; Rossi A; Van der Kooi A; de Visser M; Verschuuren C; Lunardi J
Hum Mutat; 2008 May; 29(5):670-8. PubMed ID: 18253926
[TBL] [Abstract][Full Text] [Related]
3. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F
Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615
[TBL] [Abstract][Full Text] [Related]
4. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.
Hernandez-Lain A; Husson I; Monnier N; Farnoux C; Brochier G; Lacène E; Beuvin M; Viou M; Manéré L; Claeys KG; Fardeau M; Lunardi J; Voit T; Romero NB
Eur J Med Genet; 2011; 54(1):29-33. PubMed ID: 20888934
[TBL] [Abstract][Full Text] [Related]
5. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
Romero NB; Monnier N; Viollet L; Cortey A; Chevallay M; Leroy JP; Lunardi J; Fardeau M
Brain; 2003 Nov; 126(Pt 11):2341-9. PubMed ID: 12937085
[TBL] [Abstract][Full Text] [Related]
6. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
Sato I; Wu S; Ibarra MC; Hayashi YK; Fujita H; Tojo M; Oh SJ; Nonaka I; Noguchi S; Nishino I
Neurology; 2008 Jan; 70(2):114-22. PubMed ID: 17538032
[TBL] [Abstract][Full Text] [Related]
7. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Böhm J; Leshinsky-Silver E; Vassilopoulos S; Le Gras S; Lerman-Sagie T; Ginzberg M; Jost B; Lev D; Laporte J
Acta Neuropathol; 2012 Oct; 124(4):575-81. PubMed ID: 22752422
[TBL] [Abstract][Full Text] [Related]
8. Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S; Ibarra MC; Malicdan MC; Murayama K; Ichihara Y; Kikuchi H; Nonaka I; Noguchi S; Hayashi YK; Nishino I
Brain; 2006 Jun; 129(Pt 6):1470-80. PubMed ID: 16621918
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation.
McCue ME; Valberg SJ; Jackson M; Borgia L; Lucio M; Mickelson JR
Neuromuscul Disord; 2009 Jan; 19(1):37-43. PubMed ID: 19056269
[TBL] [Abstract][Full Text] [Related]
11. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Jungbluth H; Davis MR; Müller C; Counsell S; Allsop J; Chattopadhyay A; Messina S; Mercuri E; Laing NG; Sewry CA; Bydder G; Muntoni F
Neuromuscul Disord; 2004 Dec; 14(12):785-90. PubMed ID: 15564033
[TBL] [Abstract][Full Text] [Related]
12. [Congenital myopathies].
Cabello A; Ricoy-Campo JR
Rev Neurol; 2003 Oct 16-31; 37(8):779-86. PubMed ID: 14593641
[TBL] [Abstract][Full Text] [Related]
13. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
Guis S; Figarella-Branger D; Monnier N; Bendahan D; Kozak-Ribbens G; Mattei JP; Lunardi J; Cozzone PJ; Pellissier JF
Arch Neurol; 2004 Jan; 61(1):106-13. PubMed ID: 14732627
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
Fischer D; Herasse M; Ferreiro A; Barragán-Campos HM; Chiras J; Viollet L; Maugenre S; Leroy JP; Monnier N; Lunardi J; Guicheney P; Fardeau M; Romero NB
Neurology; 2006 Dec; 67(12):2217-20. PubMed ID: 17190947
[TBL] [Abstract][Full Text] [Related]
16. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A; Klingler W; De Sarno C; Ferrara M; Fortunato G; Perrotta G; Gravino E; Di Noto R; Lehmann-Horn F; Melzer W; Salvatore F; Carsana A
Hum Mutat; 2009 Apr; 30(4):E575-90. PubMed ID: 19191333
[TBL] [Abstract][Full Text] [Related]
17. Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM; Paim JF; Navarro MM; Silva HC; Pavanello RC; Gurgel-Giannetti J; Zatz M; Vainzof M
Muscle Nerve; 2007 May; 35(5):670-4. PubMed ID: 17226826
[TBL] [Abstract][Full Text] [Related]
18. Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S; Vukcevic M; Singer M; Matter A; Treves S; Urwyler A; Girard T
Hum Mutat; 2009 Apr; 30(4):590-8. PubMed ID: 19191329
[TBL] [Abstract][Full Text] [Related]
19. Central core disease.
Jungbluth H
Orphanet J Rare Dis; 2007 May; 2():25. PubMed ID: 17504518
[TBL] [Abstract][Full Text] [Related]
20. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N; Kozak-Ribbens G; Krivosic-Horber R; Nivoche Y; Qi D; Kraev N; Loke J; Sharma P; Tegazzin V; Figarella-Branger D; Roméro N; Mezin P; Bendahan D; Payen JF; Depret T; Maclennan DH; Lunardi J
Hum Mutat; 2005 Nov; 26(5):413-25. PubMed ID: 16163667
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]