E Lopez-Gallardo, A Solano, MD Herrero- … - British Medical Journal, 2009 - jmg.bmj.com Background: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP)
syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the
ATP synthase (p.MT-ATP6). ... Methods: We have performed a mutational ... Cited by 2 - Related articles - All 3 versions
A Torraco, F Diaz, UD Vempati, CT Moraes - Biochimica et biophysica acta, 2009 - pubmedcentral.nih.gov Defects in the oxidative phosphorylation system (OXPHOS) are responsible for a
group of extremely heterogeneous and pleiotropic pathologies commonly known as
mitochondrial diseases. Although many mutations have been found to be ... Cited by 3 - Related articles - All 3 versions
E Ruiz-Pesini, E López-Gallardo, Y Dahmani, … - Revista de neurologia - ncbi.nlm.nih.gov AIM: The diseases of the oxidative phosphorylation system consist of a group of
disorders originated by a deficient synthesis of adenosine triphosphate (ATP).
These diseases are increasingly being diagnosed among patients with ... Cited by 3 - Related articles - BL Direct
JP Bonnefont, J Bastin, A Behin, F Djouadi - The New England Journal of Medicine, 2009 - nejm.highwire.org To the Editor: Carnitine palmitoyltransferase II (CPT2) deficiency is a rare
autosomal recessive disorder of mitochondrial fatty acid oxidation. The most
common form of this disorder is char- acterized by muscle stiffness, ... Cited by 4 - Related articles - All 3 versions
- ►cell.com DJM Fernandez-Ayala, A Sanz, S Vartiainen, … - Cell Metabolism, 2009 - Elsevier Defects in mitochondrial OXPHOS are associated with diverse and mostly
intractable human disorders. The single-subunit alternative oxidase (AOX) found
in many eukaryotes, but not in arthropods or vertebrates, offers a ... Cited by 5 - Related articles - All 4 versions
EC Hahn, PS Hahn - Journal of virological methods, 1987 - ncbi.nlm.nih.gov The behavior of proteins on acrylamide gels cross-linked with low concentrations
of N,N'-diallyltartardiamide (DATD) has been studied from a theoretical and
practical point of view. Modifications in methodology and a technique for ... Cited by 7 - Related articles - All 2 versions
A Rojo, Y Campos, JM Sánchez, I Bonaventura, … - Acta Neuropathologica, 2006 - Springer Abstract The 8993 T > G mutation in mitochondrial DNA has been associated with
variable syndromes of differing severity ranging from maternally inherited
Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), ... Cited by 6 - Related articles - BL Direct - All 2 versions
H Vandebona, P Mitchell, N Manwaring, K … - New England Journal of Medicine, 2009 - content.nejm.org This finding is consistent with a lack of pene- trance of the mutation in this
cohort. On the basis of a mutation frequency of 0.19% in this population,
genetic screening before aminoglycoside administration is cost-effective ... Cited by 7 - Related articles - All 3 versions
M Bitner-Glindzicz, M Pembrey, A Duncan, J … - New England Journal of Medicine, 2009 - content.nejm.org Estimates of the prevalence of the m.1555A→G mutation have been hampered
because of the small numbers of patients in such studies, many of which have
involved the ascertainment of ei- ther one or a few patients. We genotyped ... Cited by 8 - Related articles - All 3 versions
