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A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene.
Aguilera I, García-Lozano JR, Bautista J, Campos Y, Arenas J, Núñez-Roldán A. Aguilera I, et al. Hum Mutat. 1999 Dec;14(6):545. doi: 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU18>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10571957 No abstract available.
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. Hum Mutat. 2002 Mar;19(3):234-9. doi: 10.1002/humu.10050. Hum Mutat. 2002. PMID: 11857739
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
Martín MA, Blázquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, Garesse R, Campos Y, Arenas J. Martín MA, et al. Arch Neurol. 2005 Apr;62(4):659-61. doi: 10.1001/archneur.62.4.659. Arch Neurol. 2005. PMID: 15824269
[The use of cardiopulmonary exercise test in patients with mitochondrial myopathies].
Fernández J, Montemayor T, Bautista J, Márquez R, Jiménez L, Arenas J, Campos Y, Castillo J. Fernández J, et al. Med Clin (Barc). 2000 Feb 5;114(4):121-7. doi: 10.1016/s0025-7753(00)71216-4. Med Clin (Barc). 2000. PMID: 10734620 Spanish.
Mitochondrial disease and stroke.
Martínez-Fernández E, Gil-Peralta A, García-Lozano R, Chinchón I, Aguilera I, Fernández-López O, Arenas J, Campos Y, Bautista J. Martínez-Fernández E, et al. Stroke. 2001 Nov;32(11):2507-10. doi: 10.1161/hs1101.098328. Stroke. 2001. PMID: 11692008
Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.
Martín MA, Rubio JC, Campos Y, Vílchez J, Cabello A, Arenas J. Martín MA, et al. Hum Mutat. 2000 Mar;15(3):294. doi: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10679948
Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease.
Aguilera I, García-Lozano JR, Muñoz A, Arenas J, Campos Y, Chinchón I, Roldán AN, Bautista J. Aguilera I, et al. J Neurol Sci. 2001 Nov 15;192(1-2):81-4. doi: 10.1016/s0022-510x(01)00634-7. J Neurol Sci. 2001. PMID: 11701156
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