Rubio JC - Search Results

1

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Amate-García G, Ballesta-Martínez MJ, Serrano-Lorenzo P, Garrido-Moraga R, González-Quintana A, Blázquez A, Rubio JC, García-Consuegra I, Arenas J, Ugalde C, Morán M, Guillén-Navarro E, Martín MA. Amate-García G, et al. Among authors: rubio jc. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.

2

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

3

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

4

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Serrano-Lorenzo P, Rabasa M, Esteban J, Hidalgo Mayoral I, Domínguez-González C, Blanco-Echevarría A, Garrido-Moraga R, Lucia A, Blázquez A, Rubio JC, Palma-Milla C, Arenas J, Martín MA. Serrano-Lorenzo P, et al. Among authors: rubio jc. Genes (Basel). 2022 Oct 11;13(10):1835. doi: 10.3390/genes13101835. Genes (Basel). 2022. PMID: 36292720 Free PMC article.

5

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

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

[Molecular genetics of alterations in the mitochondrial respiratory chain].

Martín MA, Campos Y, de Bustos F, del Hoyo P, Rubio JC, Arenas J. Martín MA, et al. Among authors: rubio jc. Rev Neurol. 1998 Apr;26 Suppl 1:S27-35. Rev Neurol. 1998. PMID: 9810588 Review. Spanish.

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

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Rubio JC, Martín MA, Campos Y, Auciello R, Cabello A, Arenas J. Rubio JC, et al. Muscle Nerve. 2000 Jan;23(1):129-31. doi: 10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f. Muscle Nerve. 2000. PMID: 10590419

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