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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: abbs s. 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.
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. Among authors: abbs s. Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2. Arch Neurol. 2008. PMID: 18195152
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: abbs s. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207
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: abbs s. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344
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: abbs s. 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
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Quinlivan R, et al. Among authors: abbs s. Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18. Neuromuscul Disord. 2013. PMID: 23692895
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. Among authors: abbs s. Ann Neurol. 2006 Nov;60(5):603-610. doi: 10.1002/ana.21006. Ann Neurol. 2006. PMID: 17044012
SEPN1-related myopathies: clinical course in a large cohort of patients.
Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F. Scoto M, et al. Among authors: abbs s. Neurology. 2011 Jun 14;76(24):2073-8. doi: 10.1212/WNL.0b013e31821f467c. Neurology. 2011. PMID: 21670436
105 results