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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC. Meinke P, et al. Among authors: muntoni f. EBioMedicine. 2020 Jan;51:102587. doi: 10.1016/j.ebiom.2019.11.048. Epub 2019 Dec 17. EBioMedicine. 2020. PMID: 31862442 Free PMC article.
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Bonne G, Yaou RB, Béroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M. Bonne G, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Aug;13(6):508-15. doi: 10.1016/s0960-8966(03)00063-4. Neuromuscul Disord. 2003. PMID: 12899879 Review. No abstract available.
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Poppe M, et al. Among authors: muntoni f. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
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. Zhou H, et al. Among authors: muntoni f. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Godfrey C, et al. Among authors: muntoni f. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207
Muscular dystrophies due to glycosylation defects.
Muntoni F, Torelli S, Brockington M. Muntoni F, et al. Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. Neurotherapeutics. 2008. PMID: 19019316 Free PMC article. Review.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Clement E, et al. Among authors: muntoni f. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344
926 results