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564 results

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Page 1
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. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F. Godfrey C, et al. Ann Neurol. 2006 Nov;60(5):603-610. doi: 10.1002/ana.21006. Ann Neurol. 2006. PMID: 17044012
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: clement e. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. Clement EM, et al. Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2. Arch Neurol. 2008. PMID: 18195152
Differential diagnosis of congenital muscular dystrophies.
Klein A, Clement E, Mercuri E, Muntoni F. Klein A, et al. Among authors: clement e. Eur J Paediatr Neurol. 2008 Sep;12(5):371-7. doi: 10.1016/j.ejpn.2007.10.002. Epub 2007 Dec 3. Eur J Paediatr Neurol. 2008. PMID: 18588847
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC. Muntoni F, et al. Among authors: clement e. Acta Myol. 2007 Dec;26(3):129-35. Acta Myol. 2007. PMID: 18646561 Free PMC article. Review.
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: clement e. Brain Pathol. 2009 Oct;19(4):596-611. doi: 10.1111/j.1750-3639.2008.00198.x. Epub 2008 Aug 7. Brain Pathol. 2009. PMID: 18691338 Free PMC article.
Natural history of Ullrich congenital muscular dystrophy.
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F. Nadeau A, et al. Among authors: clement e. Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. Neurology. 2009. PMID: 19564581
Muscle MRI in FHL1-linked reducing body myopathy.
Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, Cioni G, Bönnemann CG, Muntoni F, Battini R. Astrea G, et al. Among authors: clement e. Neuromuscul Disord. 2009 Oct;19(10):689-91. doi: 10.1016/j.nmd.2009.06.372. Epub 2009 Jul 17. Neuromuscul Disord. 2009. PMID: 19616434
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Geranmayeh F, et al. Among authors: clement e. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6. Neuromuscul Disord. 2010. PMID: 20207543
564 results