Ortolano S - Search Results

1

Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.

San Millán-Tejado B, Navarro C, Fernández-Martín J, Rivera A, Viéitez I, Teijeira S, Ortolano S. San Millán-Tejado B, et al. Among authors: ortolano s. J Clin Med. 2023 Aug 31;12(17):5689. doi: 10.3390/jcm12175689. J Clin Med. 2023. PMID: 37685755 Free PMC article.

2

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Ortolano S, et al. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Neuromuscul Disord. 2011. PMID: 21288719

3

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, Louis S, Laforet P, Navarro C. Vieitez I, et al. Among authors: ortolano s. Neuromuscul Disord. 2011 Dec;21(12):817-23. doi: 10.1016/j.nmd.2011.07.002. Epub 2011 Jul 29. Neuromuscul Disord. 2011. PMID: 21802952

4

Present and future of adeno associated virus based gene therapy approaches.

Ortolano S, Spuch C, Navarro C. Ortolano S, et al. Recent Pat Endocr Metab Immune Drug Discov. 2012 Jan;6(1):47-66. doi: 10.2174/187221412799015245. Recent Pat Endocr Metab Immune Drug Discov. 2012. PMID: 22264214 Review.

5

Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.

Spuch C, Ortolano S, Navarro C. Spuch C, et al. Among authors: ortolano s. Recent Pat Endocr Metab Immune Drug Discov. 2012 May;6(2):99-107. doi: 10.2174/187221412800604617. Recent Pat Endocr Metab Immune Drug Discov. 2012. PMID: 22369717 Review.

6

New insights in the amyloid-Beta interaction with mitochondria.

Spuch C, Ortolano S, Navarro C. Spuch C, et al. Among authors: ortolano s. J Aging Res. 2012;2012:324968. doi: 10.1155/2012/324968. Epub 2012 Mar 19. J Aging Res. 2012. PMID: 22523685 Free PMC article.

7

LRP-1 and LRP-2 receptors function in the membrane neuron. Trafficking mechanisms and proteolytic processing in Alzheimer's disease.

Spuch C, Ortolano S, Navarro C. Spuch C, et al. Among authors: ortolano s. Front Physiol. 2012 Jul 16;3:269. doi: 10.3389/fphys.2012.00269. eCollection 2012. Front Physiol. 2012. PMID: 22934024 Free PMC article.

8

Treatment of lysosomal storage diseases: recent patents and future strategies.

Ortolano S, Viéitez I, Navarro C, Spuch C. Ortolano S, et al. Recent Pat Endocr Metab Immune Drug Discov. 2014 Jan;8(1):9-25. doi: 10.2174/1872214808666140115111350. Recent Pat Endocr Metab Immune Drug Discov. 2014. PMID: 24433521 Review.

9

Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.

Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C. Ortolano S, et al. Mol Brain. 2014 Jan 28;7:7. doi: 10.1186/1756-6606-7-7. Mol Brain. 2014. PMID: 24472629 Free PMC article.

10

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S. Vieitez I, et al. Among authors: ortolano s. Orphanet J Rare Dis. 2018 Apr 10;13(1):52. doi: 10.1186/s13023-018-0792-8. Orphanet J Rare Dis. 2018. PMID: 29631605 Free PMC article.

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