Coll MJ - Search Results

1

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.

Iturriaga C, Pineda M, Fernández-Valero EM, Vanier MT, Coll MJ. Iturriaga C, et al. Among authors: coll mj. J Neurol Sci. 2006 Nov 1;249(1):1-6. doi: 10.1016/j.jns.2006.05.054. Epub 2006 Jun 30. J Neurol Sci. 2006. PMID: 16814322

2

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: coll mj. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.

3

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Among authors: coll mj. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.

4

[New mutation in a young woman diagnosed with Niemann-Pick disease type C].

Lario A, de Miguel C, Ojeda E, Gil S, Coll MJ, Alfonso P. Lario A, et al. Among authors: coll mj. Med Clin (Barc). 2016 Jun 3;146(11):494-6. doi: 10.1016/j.medcli.2016.01.031. Epub 2016 Mar 23. Med Clin (Barc). 2016. PMID: 27016452 Spanish.

5

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.

6

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Rodríguez-Pascau L, et al. Among authors: coll mj. Mol Genet Metab. 2012 Dec;107(4):716-20. doi: 10.1016/j.ymgme.2012.10.004. Epub 2012 Oct 14. Mol Genet Metab. 2012. PMID: 23142039

7

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Rodríguez-Pascau L, et al. Among authors: coll mj. Hum Mutat. 2009 Nov;30(11):E993-E1001. doi: 10.1002/humu.21119. Hum Mutat. 2009. PMID: 19718781

8

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

9

Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.

Macías-Vidal J, Guerrero-Hernández M, Estanyol JM, Aguado C, Knecht E, Coll MJ, Bachs O. Macías-Vidal J, et al. Among authors: coll mj. Proteomics. 2016 Jan;16(1):150-8. doi: 10.1002/pmic.201500110. Epub 2015 Dec 15. Proteomics. 2016. PMID: 26507101

10

Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.

Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Rodríguez-Pascau L, et al. Among authors: coll mj. JIMD Rep. 2012;4:29-37. doi: 10.1007/8904_2011_64. Epub 2011 Nov 1. JIMD Rep. 2012. PMID: 23430894 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results