García A - 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: garcia a. 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

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: garcia a. Neuromuscul Disord. 2003 Jun;13(5):416-20. doi: 10.1016/s0960-8966(03)00039-7. Neuromuscul Disord. 2003. PMID: 12798797

3

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: garcia a. Neuromuscul Disord. 2000 Oct;10(7):493-6. doi: 10.1016/s0960-8966(00)00107-3. Neuromuscul Disord. 2000. PMID: 10996780

4

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.

Martín MA, Rubio JC, García A, Fernández MA, Campos Y, Krawczak M, Cooper DN, Arenas J. Martín MA, et al. Among authors: garcia a. Clin Genet. 2001 Jan;59(1):48-51. doi: 10.1034/j.1399-0004.2001.590108.x. Clin Genet. 2001. PMID: 11168025

5

NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.

Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I. Rojo A, et al. Among authors: garcia a. Acta Neuropathol. 2006 Jun;111(6):610-6. doi: 10.1007/s00401-006-0040-5. Epub 2006 Mar 9. Acta Neuropathol. 2006. PMID: 16525806

6

McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

Rubio JC, Martín MA, García A, Campos Y, Cabello A, Culebras JM, Arenas J. Rubio JC, et al. Among authors: garcia a. Neuromuscul Disord. 1999 May;9(3):174-5. doi: 10.1016/s0960-8966(98)00127-8. Neuromuscul Disord. 1999. PMID: 10382912

7

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation.

Campos Y, García A, Eiris J, Fuster M, Rubio JC, Martín MA, del Hoyo P, Pintos E, Castro-Gago M, Arenas J. Campos Y, et al. Among authors: garcia a. J Inherit Metab Dis. 2001 Nov;24(6):685-7. doi: 10.1023/a:1012719211505. J Inherit Metab Dis. 2001. PMID: 11768589 No abstract available.

8

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency.

Martín MA, Rubio JC, De Bustos F, Del Hoyo P, Campos Y, García A, Börnstein B, Cabello A, Arenas J. Martín MA, et al. Among authors: garcia a. Muscle Nerve. 1999 Jul;22(7):941-3. doi: 10.1002/(sici)1097-4598(199907)22:7<941::aid-mus20>3.0.co;2-z. Muscle Nerve. 1999. PMID: 10398215 Clinical Trial.

9

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

Martín MA, Rubio JC, del Hoyo P, García A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J. Martín MA, et al. Among authors: garcia a. Hum Mutat. 2000 Jun;15(6):579-80. doi: 10.1002/1098-1004(200006)15:6<579::AID-HUMU14>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10862092

10

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy.

Campos Y, García A, López A, Jiménez S, Rubio JC, Del Hoyo P, Bustos F, Martín MA, Cabello A, Ricoy JR, Arenas J. Campos Y, et al. Among authors: garcia a. Muscle Nerve. 2002 Feb;25(2):185-8. doi: 10.1002/mus.10012. Muscle Nerve. 2002. PMID: 11870684

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

8,497 results

Search Page

Filters