Rubio JC - Search Results

1

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL. Nogales-Gadea G, et al. Among authors: rubio jc. PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9. PLoS One. 2012. PMID: 22347505 Free PMC article.

2

Multiple deletions of mitochondrial DNA in muscle from a patient with benign progressive external ophthalmoplegia.

Campos Y, Martín MA, Rubio JC, Ricard C, Cabello A, Arenas J. Campos Y, et al. Among authors: rubio jc. J Inherit Metab Dis. 1996;19(3):366-7. doi: 10.1007/BF01799268. J Inherit Metab Dis. 1996. PMID: 8803781 No abstract available.

3

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

Campos Y, Martín MA, Rubio JC, Solana LG, García-Benayas C, Terradas JL, Arenas J. Campos Y, et al. Among authors: rubio jc. Neurology. 1997 Aug;49(2):595-7. doi: 10.1212/wnl.49.2.595. Neurology. 1997. PMID: 9270604

4

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

Campos Y, Martín MA, Rubio JC, Gutiérrez del Olmo MC, Cabello A, Arenas J. Campos Y, et al. Among authors: rubio jc. Biochem Biophys Res Commun. 1997 Sep 18;238(2):323-5. doi: 10.1006/bbrc.1997.7166. Biochem Biophys Res Commun. 1997. PMID: 9299504

5

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.

Rubio JC, Martín MA, Bautista J, Campos Y, Segura D, Arenas J. Rubio JC, et al. Neuromuscul Disord. 1997 Sep;7(6-7):387-9. doi: 10.1016/s0960-8966(97)00095-3. Neuromuscul Disord. 1997. PMID: 9327403

6

Complex I defect in muscle from patients with Huntington's disease.

Arenas J, Campos Y, Ribacoba R, Martín MA, Rubio JC, Ablanedo P, Cabello A. Arenas J, et al. Among authors: rubio jc. Ann Neurol. 1998 Mar;43(3):397-400. doi: 10.1002/ana.410430321. Ann Neurol. 1998. PMID: 9506560

7

[Enzyme complex defects of the mitochondrial respiratory chain].

Rubio JC, Martín MA, del Hoyo P, de Bustos F, Campos Y, Arenas J. Rubio JC, et al. Rev Neurol. 1998 Apr;26 Suppl 1:S15-20. Rev Neurol. 1998. PMID: 9810586 Review. Spanish.

8

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.

Rubio JC, Martín MA, Bautista J, Campos Y, Segura D, Cabello A, Chinchón I, Arenas J. Rubio JC, et al. J Neurol Sci. 1998 Dec 11;161(2):110-3. doi: 10.1016/s0022-510x(98)00263-9. J Neurol Sci. 1998. PMID: 9879690

9

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. Arenas J, et al. Among authors: rubio jc. Neurology. 1999 Jan 15;52(2):377-82. doi: 10.1212/wnl.52.2.377. Neurology. 1999. PMID: 9932960

10

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle.

Campos Y, Martín MA, García-Silva T, del Hoyo P, Rubio JC, Castro-Gago M, García-Peñas J, Casas J, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Among authors: rubio jc. Neuromuscul Disord. 1998 Dec;8(8):568-73. doi: 10.1016/s0960-8966(98)00080-7. Neuromuscul Disord. 1998. PMID: 10093063

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