Arenas J - Search Results

1

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

Torroni A, Campos Y, Rengo C, Sellitto D, Achilli A, Magri C, Semino O, García A, Jara P, Arenas J, Scozzari R. Torroni A, et al. Among authors: arenas j. Am J Hum Genet. 2003 Apr;72(4):1005-12. doi: 10.1086/373936. Epub 2003 Feb 24. Am J Hum Genet. 2003. PMID: 12612863 Free PMC article.

2

About the "Pathological" role of the mtDNA T3308C mutationellipsis.

Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A. Rocha H, et al. Among authors: arenas j. Am J Hum Genet. 1999 Nov;65(5):1457-9. doi: 10.1086/302641. Am J Hum Genet. 1999. PMID: 10521313 Free PMC article. No abstract available.

3

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C. Pello R, et al. Among authors: arenas j. Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19. Hum Mol Genet. 2008. PMID: 18806273

4

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.

Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T. Kirino Y, et al. Among authors: arenas j. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7127-32. doi: 10.1073/pnas.0500563102. Epub 2005 May 3. Proc Natl Acad Sci U S A. 2005. PMID: 15870203 Free PMC article.

5

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.

Campos Y, García A, del Hoyo P, Jara P, Martín MA, Rubio JC, Berbel A, Barberá JR, Ribacoba R, Astudillo A, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Among authors: arenas j. Neuromuscul Disord. 2003 Jun;13(5):416-20. doi: 10.1016/s0960-8966(03)00039-7. Neuromuscul Disord. 2003. PMID: 12798797

6

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

Bornstein B, Mas JA, Fernández-Moreno MA, Campos Y, Martín MA, del Hoyo P, Rubio JC, Arenas J, Garesse R. Bornstein B, et al. Among authors: arenas j. Hum Mutat. 2002 Mar;19(3):234-9. doi: 10.1002/humu.10050. Hum Mutat. 2002. PMID: 11857739

7

Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA.

Campos Y, Bautista J, Gutierrez-Rivas E, Llabrés J, Lorenzo G, Arenas J. Campos Y, et al. Among authors: arenas j. J Inherit Metab Dis. 1994;17(5):634-5. doi: 10.1007/BF00711608. J Inherit Metab Dis. 1994. PMID: 7837776 No abstract available.

8

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Campos Y, et al. Among authors: arenas j. Muscle Nerve. 1996 Feb;19(2):187-90. doi: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S. Muscle Nerve. 1996. PMID: 8559168

9

[Molecular genetics of mitochondrial cytopathologies].

Arenas J, Campos Y, Martín MA. Arenas J, et al. Neurologia. 1995 Dec;10 Suppl 1:44-9. Neurologia. 1995. PMID: 8838558 Review. Spanish.

10

A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

Campos Y, Lorenzo G, Martín MA, Torregrosa A, del Hoyo P, Rubio JC, García A, Arenas J. Campos Y, et al. Among authors: arenas j. Neuromuscul Disord. 2000 Oct;10(7):493-6. doi: 10.1016/s0960-8966(00)00107-3. Neuromuscul Disord. 2000. PMID: 10996780

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