Briones P - Search Results

1

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: briones p. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.

2

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. Among authors: briones p. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

3

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Casado M, et al. Among authors: briones p. Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y. Cerebellum. 2012. PMID: 22012410

4

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R. Montero R, et al. Among authors: briones p. Cerebellum. 2007;6(2):118-22. doi: 10.1080/14734220601021700. Cerebellum. 2007. PMID: 17510911 Review.

5

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B. Pérez-Cerdá C, et al. Among authors: briones p. J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27. J Pediatr. 2017. PMID: 28139241

6

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B, García-Cazorla A, Pineda M, Poo P, Campistol J, Cusí V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch R, Vilaseca MA. Pérez-Dueñas B, et al. Among authors: briones p. Eur J Paediatr Neurol. 2009 Sep;13(5):444-51. doi: 10.1016/j.ejpn.2008.09.002. Epub 2008 Oct 22. Eur J Paediatr Neurol. 2009. PMID: 18948042

7

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R. Pineda M, et al. Among authors: briones p. Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129. Mov Disord. 2010. PMID: 20629161 Clinical Trial.

8

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: briones p. Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Mitochondrion. 2016. PMID: 27079373 Review.

9

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: briones p. JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430838 Free PMC article.

10

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P. Vilaseca MA, et al. Among authors: briones p. Med Clin (Barc). 2004 May 15;122(18):707-16. doi: 10.1016/s0025-7753(04)74362-6. Med Clin (Barc). 2004. PMID: 15171833 Review. Spanish.

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