Jimenez-Mallebrera C - Search Results

1

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

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, Bönnemann CG. Lampe AK, et al. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

2

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Jiménez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D, Muntoni F. Jiménez-Mallebrera C, et al. Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4. Eur J Paediatr Neurol. 2003. PMID: 12788039

3

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Longman C, et al. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966029

4

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.

Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F. Brockington M, et al. Prenat Diagn. 2004 Jun;24(6):440-4. doi: 10.1002/pd.902. Prenat Diagn. 2004. PMID: 15229843

5

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA. Torelli S, et al. Neuropathol Appl Neurobiol. 2004 Oct;30(5):540-5. doi: 10.1111/j.1365-2990.2004.00561.x. Neuropathol Appl Neurobiol. 2004. PMID: 15488030

6

Congenital muscular dystrophy: molecular and cellular aspects.

Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Cell Mol Life Sci. 2005 Apr;62(7-8):809-23. doi: 10.1007/s00018-004-4510-4. Cell Mol Life Sci. 2005. PMID: 15868406 Review.

7

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML. Lucarini L, et al. Hum Genet. 2005 Sep;117(5):460-6. doi: 10.1007/s00439-005-1318-8. Epub 2005 Jun 17. Hum Genet. 2005. PMID: 16075202

8

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.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502

9

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. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207

10

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

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