Publications
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Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM and Bönnemann CG.
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
HUMAN MUTATION . 29(6): 809-822. Number of citations: 69
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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 and Muntoni F.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
Archives of Neurology . 65(1): 137-141. Number of citations: 68
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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 and Brown SC.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 26(3): 129-35. Number of citations: 41
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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 and Muntoni F.
Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
BRAIN . 130: 2725-2735. Number of citations: 320
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Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA and Muntoni F.
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
NEUROMUSCULAR DISORDERS . 17(2): 174-179. Number of citations: 25
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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 and Muntoni F.
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
ANNALS OF NEUROLOGY . 60(5): 603-610. Number of citations: 114
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Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA and Muntoni F.
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
NEUROMUSCULAR DISORDERS . 16(9-10): 571-582. Number of citations: 82
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Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez-Mallebrera C, Skordis L, Feng LH, Merlini L, Jones DH, Romero N, Wewer U, Voit T, Sewry CA, Noguchi S, Nishino I and Muntoni F.
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
NEUROMUSCULAR DISORDERS . 15(12): 836-843. Number of citations: 29
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Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P and Tomé FM.
Prenatal diagnosis in laminin a2 chain (merosin)-deficient congenital muscular dystrophy:: A collective experience of five international centers
NEUROMUSCULAR DISORDERS . 15(9-10): 588-594. Number of citations: 26
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Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G and Chu ML.
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
HUMAN GENETICS . 117(5): 460-466. Number of citations: 23