Coll MJ - Search Results

1

Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

Sisinni L, Pineda M, Coll MJ, Gort L, Turon E, Torrent M, Ey A, Tobajas E, Badell I. Sisinni L, et al. Among authors: coll mj. Pediatr Transplant. 2018 Nov;22(7):e13278. doi: 10.1111/petr.13278. Epub 2018 Aug 9. Pediatr Transplant. 2018. PMID: 30091163

2

Natural history of Sanfilippo syndrome in Spain.

Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Delgadillo V, et al. Among authors: coll mj. Orphanet J Rare Dis. 2013 Dec 6;8:189. doi: 10.1186/1750-1172-8-189. Orphanet J Rare Dis. 2013. PMID: 24314109 Free PMC article.

3

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.

Matalonga L, Arias A, Coll MJ, Garcia-Villoria J, Gort L, Ribes A. Matalonga L, et al. Among authors: coll mj. J Inherit Metab Dis. 2014 May;37(3):439-46. doi: 10.1007/s10545-013-9668-1. Epub 2013 Dec 18. J Inherit Metab Dis. 2014. PMID: 24347096

4

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

Gort L, Coll MJ, Chabás A. Gort L, et al. Among authors: coll mj. Mol Genet Metab. 2007 Sep-Oct;92(1-2):183-7. doi: 10.1016/j.ymgme.2007.05.011. Epub 2007 Jul 5. Mol Genet Metab. 2007. PMID: 17616415

5

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Matalonga L, Arias Á, Tort F, Ferrer-Cortés X, Garcia-Villoria J, Coll MJ, Gort L, Ribes A. Matalonga L, et al. Among authors: coll mj. Neurotherapeutics. 2015 Oct;12(4):874-86. doi: 10.1007/s13311-015-0368-4. Neurotherapeutics. 2015. PMID: 26169295 Free PMC article.

6

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

Macías-Vidal J, Gort L, Lluch M, Pineda M, Coll MJ. Macías-Vidal J, et al. Among authors: coll mj. Mol Genet Metab. 2009 May;97(1):60-4. doi: 10.1016/j.ymgme.2009.01.007. Epub 2009 Feb 14. Mol Genet Metab. 2009. PMID: 19223215

7

Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabás A. Gort L, et al. Among authors: coll mj. Mol Genet Metab. 2006 Dec;89(4):398-400. doi: 10.1016/j.ymgme.2006.07.001. Epub 2006 Aug 14. Mol Genet Metab. 2006. PMID: 16904924

8

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Díaz-Font A, et al. Among authors: coll mj. Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11. doi: 10.1016/j.ymgme.2005.07.004. Mol Genet Metab. 2005. PMID: 16125993

9

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Garrido E, et al. Among authors: coll mj. Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30. doi: 10.1016/j.ymgme.2007.06.002. Epub 2007 Jul 20. Mol Genet Metab. 2007. PMID: 17643332

10

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: coll mj. Hum Mutat. 2006 Oct;27(10):1060. doi: 10.1002/humu.9451. Hum Mutat. 2006. PMID: 16941474

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