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X-linked myotubular myopathy: A prospective international natural history study.
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L. Annoussamy M, et al. Among authors: hernandez a. Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22. Neurology. 2019. PMID: 30902907 Free PMC article. Clinical Trial.
The humoral immunity against adeno-associated virus serotype 8 was also monitored. RESULTS: Forty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. ...
The humoral immunity against adeno-associated virus serotype 8 was also monitored. RESULTS: Forty-five male patients aged 3.5 months …
Adult onset of type 3 deiodinase deficiency in mice alters brain gene expression and increases locomotor activity.
Stohn JP, Martinez ME, St Germain DL, Hernandez A. Stohn JP, et al. Among authors: hernandez a. Psychoneuroendocrinology. 2019 Dec;110:104439. doi: 10.1016/j.psyneuen.2019.104439. Epub 2019 Sep 18. Psychoneuroendocrinology. 2019. PMID: 31561084 Free PMC article.
Mice carrying "floxed" Dio3 alleles and a tamoxifen-inducible cre transgene were injected with tamoxifen at two months of age. Compared to oil-injected controls, the brain tissue of these mice showed a 75-80% decrease in DIO3 activity and 85-95% Dio3 mRNA was expressed fro …
Mice carrying "floxed" Dio3 alleles and a tamoxifen-inducible cre transgene were injected with tamoxifen at two months of age. Compar …
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C. Sevilla T, et al. Among authors: hernandez a. J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. J Peripher Nerv Syst. 2011. PMID: 22176150 Free article.
This case illustrates the clinical heterogeneity that exists in neuropathies associated with MPZ mutations and highlights that in patients with mild hypotonia in the first months that develop a very severe demyelinating neuropathy, the MPZ gene must be taken into account.. …
This case illustrates the clinical heterogeneity that exists in neuropathies associated with MPZ mutations and highlights that in patients w …
Retinal pigment epithelium tears in age-related macular degeneration treated with antiangiogenic drugs: a controlled study with long follow-up.
Coco RM, Sanabria MR, Hernandez AG, Fernández Muñoz M. Coco RM, et al. Among authors: hernandez ag. Ophthalmologica. 2012;228(2):78-83. doi: 10.1159/000338730. Epub 2012 Jun 15. Ophthalmologica. 2012. PMID: 22710369 Clinical Trial.
RESULTS: A statistically significant difference was found in VA between the groups from the 3rd month to the final follow-up (p = 0.034). Final VA improved in the treatment group (p = 0.015). ...
RESULTS: A statistically significant difference was found in VA between the groups from the 3rd month to the final follow-up (p = 0.0 …
Rescue treatment with terlipressin in children with refractory septic shock: a clinical study.
Rodríguez-Núñez A, López-Herce J, Gil-Antón J, Hernández A, Rey C; RETSPED Working Group of the Spanish Society of Pediatric Intensive Care. Rodríguez-Núñez A, et al. Among authors: hernandez a. Crit Care. 2006 Feb;10(1):R20. doi: 10.1186/cc3984. Crit Care. 2006. PMID: 16469127 Free PMC article.
METHODS: We prospectively registered the children with severe septic shock and hypotension resistant to standard intensive care, including a high dose of catecholamines, who received compassionate therapy with TP in nine pediatric intensive care units in Spain, over a 12-month …
METHODS: We prospectively registered the children with severe septic shock and hypotension resistant to standard intensive care, including a …
Initial Stop Voicing in Bilingual Children With Cochlear Implants and Their Typically Developing Peers With Normal Hearing.
Bunta F, Goodin-Mayeda CE, Procter A, Hernandez A. Bunta F, et al. Among authors: hernandez a. J Speech Lang Hear Res. 2016 Aug 1;59(4):686-98. doi: 10.1044/2016_JSLHR-S-15-0212. J Speech Lang Hear Res. 2016. PMID: 27366990 Free PMC article.
METHOD: Twenty-two bilingual children participated in our study (11 with NH, M age = 5;1 [years;months], and 11 with CIs, M hearing age = 5;1). The groups were matched on hearing age and a range of demographic variables. ...
METHOD: Twenty-two bilingual children participated in our study (11 with NH, M age = 5;1 [years;months], and 11 with CIs, M hearing a …