Pérez-Navero JL - Search Results

1

Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Among authors: perez navero jl. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.

2

Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K. López-Laso E, et al. J Neurol. 2009 Nov;256(11):1816-24. doi: 10.1007/s00415-009-5198-z. Epub 2009 Jun 16. J Neurol. 2009. PMID: 19533203

3

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R. López-Laso E, et al. J Neurol. 2011 Dec;258(12):2155-62. doi: 10.1007/s00415-011-6079-9. Epub 2011 May 10. J Neurol. 2011. PMID: 21556877

4

Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.

López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal A, Artuch R. López-Laso E, et al. J Neurol Sci. 2007 May 15;256(1-2):90-3. doi: 10.1016/j.jns.2007.02.007. Epub 2007 Mar 21. J Neurol Sci. 2007. PMID: 17368676

5

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.

López-Laso E, Ormazabal A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA, Artuch R. López-Laso E, et al. Clin Biochem. 2006 Sep;39(9):893-7. doi: 10.1016/j.clinbiochem.2006.03.002. Epub 2006 Apr 19. Clin Biochem. 2006. PMID: 16624273

6

[Neurological complications in patients receiving solid organ transplants].

Fernández-Ramos JA, López-Laso E, Ordóñez-Díaz MD, Camino-León R, Ibarra-de la Rosa I, Frías-Pérez MA, Gilbert-Pérez JJ, Pérez-Navero JL. Fernández-Ramos JA, et al. An Pediatr (Barc). 2013 Mar;78(3):149-56. doi: 10.1016/j.anpedi.2012.08.001. Epub 2012 Sep 10. An Pediatr (Barc). 2013. PMID: 22974597 Free article. Spanish.

7

Experience in neuromuscular diseases in children and adolescents and their comorbidities in a tertiary hospital.

Gascón-Navarro JA, De La Torre-Aguilar MJ, Fernández-Ramos JA, Torres-Borrego J, Pérez-Navero JL. Gascón-Navarro JA, et al. Among authors: perez navero jl. Ital J Pediatr. 2021 Nov 16;47(1):228. doi: 10.1186/s13052-021-01176-4. Ital J Pediatr. 2021. PMID: 34784950 Free PMC article.

8

Children With Autism Spectrum Disorder and Neurodevelopmental Regression Present a Severe Pattern After a Follow-Up at 24 Months.

Martin-Borreguero P, Gómez-Fernández AR, De La Torre-Aguilar MJ, Gil-Campos M, Flores-Rojas K, Perez-Navero JL. Martin-Borreguero P, et al. Front Psychiatry. 2021 Mar 26;12:644324. doi: 10.3389/fpsyt.2021.644324. eCollection 2021. Front Psychiatry. 2021. PMID: 33841211 Free PMC article.

9

Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene.

Mateos ME, Beyer K, López-Laso E, Siles JL, Pérez-Navero JL, Peña MJ, Guzmán J, Matas J. Mateos ME, et al. Am J Med Genet A. 2013 May;161A(5):1091-5. doi: 10.1002/ajmg.a.35738. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463737

10

Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1.

Mateos ME, López-Laso E, Vicente J, Ortega R, Vázquez F, Pérez-Navero JL. Mateos ME, et al. Pediatr Int. 2020 Jul;62(7):857-859. doi: 10.1111/ped.14183. Epub 2020 Jul 6. Pediatr Int. 2020. PMID: 32027426 No abstract available.

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

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

110 results

Search Page