Jimenez-Mallebrera C - Search Results

1

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C. Paco S, et al. PLoS One. 2013 Oct 11;8(10):e77430. doi: 10.1371/journal.pone.0077430. eCollection 2013. PLoS One. 2013. PMID: 24223098 Free PMC article.

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

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F. Longman C, et al. Arch Neurol. 2004 Aug;61(8):1301-6. doi: 10.1001/archneur.61.8.1301. Arch Neurol. 2004. PMID: 15313851

6

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

7

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.

8

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

9

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

10

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

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