150 related articles for article (PubMed ID: 17365175)
1. Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F; Jungbluth H; Zhou H; Muntoni F; Treves S
IUBMB Life; 2007 Jan; 59(1):14-20. PubMed ID: 17365175
[TBL] [Abstract][Full Text] [Related]
2. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A; Quijano-Roy S; Pichereau C; Moghadaszadeh B; Goemans N; Bönnemann C; Jungbluth H; Straub V; Villanova M; Leroy JP; Romero NB; Martin JJ; Muntoni F; Voit T; Estournet B; Richard P; Fardeau M; Guicheney P
Am J Hum Genet; 2002 Oct; 71(4):739-49. PubMed ID: 12192640
[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. Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis; 2007 Jul; 2():31. PubMed ID: 17631035
[TBL] [Abstract][Full Text] [Related]
5. 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M; Rendu J; Brocard J; Lacene E; Fauré J; Brochier G; Beuvin M; Labasse C; Madelaine A; Malfatti E; Bevilacqua JA; Lubieniecki F; Monges S; Taratuto AL; Laporte J; Marty I; Antonini G; Romero NB
Acta Neuropathol Commun; 2019 Jan; 7(1):3. PubMed ID: 30611313
[TBL] [Abstract][Full Text] [Related]
6. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C; Noreen F; Voermans NC; Schär PL; Vissing J; Fock JM; Bulk S; Kusters B; Moore SA; Beggs AH; Mathews KD; Meyer M; Genetti CA; Meola G; Cardani R; Mathews E; Jungbluth H; Muntoni F; Zorzato F; Treves S
Hum Mutat; 2019 Jul; 40(7):962-974. PubMed ID: 30932294
[TBL] [Abstract][Full Text] [Related]
7. Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
Herasse M; Parain K; Marty I; Monnier N; Kaindl AM; Leroy JP; Richard P; Lunardi J; Romero NB; Ferreiro A
J Neuropathol Exp Neurol; 2007 Jan; 66(1):57-65. PubMed ID: 17204937
[TBL] [Abstract][Full Text] [Related]
8. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H; Müller CR; Halliger-Keller B; Brockington M; Brown SC; Feng L; Chattopadhyay A; Mercuri E; Manzur AY; Ferreiro A; Laing NG; Davis MR; Roper HP; Dubowitz V; Bydder G; Sewry CA; Muntoni F
Neurology; 2002 Jul; 59(2):284-7. PubMed ID: 12136074
[TBL] [Abstract][Full Text] [Related]
9. [Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].
Lunardi J; Monnier N
Rev Neurol (Paris); 2004 May; 160(5 Pt 2):S70-7. PubMed ID: 15269663
[TBL] [Abstract][Full Text] [Related]
10. Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy.
Kazamel M; Milone M
J Clin Neurosci; 2019 Apr; 62():238-239. PubMed ID: 30612914
[TBL] [Abstract][Full Text] [Related]
11. Mouse model of severe recessive RYR1-related myopathy.
Brennan S; Garcia-Castañeda M; Michelucci A; Sabha N; Malik S; Groom L; Wei LaPierre L; Dowling JJ; Dirksen RT
Hum Mol Genet; 2019 Sep; 28(18):3024-3036. PubMed ID: 31107960
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST; Oliveira J; Santos R; Pereira P; Barroso C; Conceição I; Evangelista T
Muscle Nerve; 2011 Jul; 44(1):102-8. PubMed ID: 21674524
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K; Bailey A; Hwang JH; Tarnopolsky MA; Bonnemann CG; Medne L; Mathews KD; Collins J; Daube JR; Wellman GP; Callaghan B; Clarke NF; Dowling JJ
Orphanet J Rare Dis; 2013 Aug; 8():117. PubMed ID: 23919265
[TBL] [Abstract][Full Text] [Related]
16. 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H; Muntoni F; Ferreiro A;
Neuromuscul Disord; 2008 Dec; 18(12):989-96. PubMed ID: 18948004
[No Abstract] [Full Text] [Related]
17. Selenoprotein N deficiency in mice is associated with abnormal lung development.
Moghadaszadeh B; Rider BE; Lawlor MW; Childers MK; Grange RW; Gupta K; Boukedes SS; Owen CA; Beggs AH
FASEB J; 2013 Apr; 27(4):1585-99. PubMed ID: 23325319
[TBL] [Abstract][Full Text] [Related]
18. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
Monnier N; Ferreiro A; Marty I; Labarre-Vila A; Mezin P; Lunardi J
Hum Mol Genet; 2003 May; 12(10):1171-8. PubMed ID: 12719381
[TBL] [Abstract][Full Text] [Related]
19. [Structural congenital myopathies].
Erazo-Torricelli R
Rev Neurol; 2013 Sep; 57 Suppl 1():S53-64. PubMed ID: 23897157
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]