Search Results - "SCHAEFER, A. M"

Mitochondrial disease in adults: a scale to monitor progression and treatment by Schaefer, A M, Phoenix, C, Elson, J L, McFarland, R, Chinnery, P F, Turnbull, D M

“…The natural history of mitochondrial diseases is poorly understood, limiting our ability to offer prognostic advice to patients or to evaluate therapy. One…”
Get full text

RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS by FRATTER, C, RAMAN, P, POULTON, J, BRIERLEY, C, STAUNTON, T. G, TURNPENNY, P. D, SCHAEFER, A. M, CHINNERY, P. F, HORVATH, R, TURNBULL, D. M, GORMAN, G. S, TAYLOR, R. W, ALSTON, C. L, BLAKELY, E. L, CRAIG, K, SMITH, C, EVANS, J, SELLER, A, CZERMIN, B, HANNA, M. G

Get full text

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement by Betts, J., Jaros, E., Perry, R. H., Schaefer, A. M., Taylor, R. W., Abdel-All, Z., Lightowlers, R. N., Turnbull, D. M.

“…Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of…”
Get full text

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) by AGOSTINO, A, VALLETTA, L, CHINNERY, P. F, FERRARI, G, CARRARA, F, TAYLOR, R. W, SCHAEFER, A. M, TURNBULL, D. M, TIRANTI, V, ZEVIANI, M

“…To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA…”
Get full text

Prevalence and progression of diabetes in mitochondrial disease by Whittaker, R. G, Schaefer, A. M, McFarland, R, Taylor, R. W, Walker, M, Turnbull, D. M

“…Aims/Hypothesis The aims of this study were (1) to determine the prevalence and rate of progression in diabetes secondary to mitochondrial DNA (mtDNA)…”
Get full text

Homoplasmy, heteroplasmy, and mitochondrial dystonia by MCFARLAND, R, CHINNERY, P. F, TAYLOR, R. W, BLAKELY, E. L, SCHAEFER, A. M, MORRIS, A. A. M, FOSTER, S. M, TUPPEN, H. A. L, RAMESH, V, DORMAN, P. J, TURNBULL, D. M

“…In clinical practice, mitochondrial disease is seldom considered until a variable combination of seizures, alteration in tone, muscle weakness, and…”
Get full text

Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions by Betts-Henderson, J., Jaros, E., Krishnan, K. J., Perry, R. H., Reeve, A. K., Schaefer, A. M., Taylor, R. W., Turnbull, D. M.

Get full text

GASTROINTESTINAL TRACT INVOLVEMENT ASSOCIATED WITH THE 3243A>G MITOCHONDRIAL DNA MUTATION by BETTS, J, BARRON, M. J, NEEDHAM, S. J, SCHAEFER, A. M, TAYLOR, R. W, TURNBULL, D. M

Get full text

Mitochondrial DNA deletion in “identical” twin brothers by Blakely, E L, He, L, Taylor, R W, Chinnery, P F, Lightowlers, R N, Schaefer, A M, Turnbull, D M

Get full text

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions by Hudson, G, Deschauer, M, Taylor, R W, Hanna, M G, Fialho, D, Schaefer, A M, He, L-P, Blakely, E, Turnbull, D M, Chinnery, P F

“…The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions…”
Get full text

Occurrence of blood parasites in seabirds admitted for rehabilitation in the Western Cape, South Africa, 2001–2013 by Parsons, N.J., Voogt, N.M., Schaefer, A.M., Peirce, M.A., Vanstreels, R.E.T.

“…[Display omitted] •We evaluated blood smears of 1909 seabirds belonging to 27 seabird species.•Blood parasites were detected in 59% of species and 29% of…”
Get full text

Hematological and serum biochemical profile of farm emus (Dromaius novaehollandiae) at the onset of their breeding season by Menon, D. G., Bennett, D. C., Schaefer, A. M., Cheng, K. M.

“…ABSTRACT Blood profiling is a helpful tool in detecting the health status, metabolic diseases, nutritional deficiencies, and welfare of animals. Body weights,…”
Get full text

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene by Taylor, R W, Schaefer, A M, McDonnell, M T, Petty, R K H, Thomas, A M, Blakely, E L, Hayes, C M, McFarland, R, Turnbull, D M

“…The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial…”
Get full text

Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy by Barron, M.J., Chinnery, P.F., Howel, D., Blakely, E.L., Schaefer, A.M., Taylor, R.W., Turnbull, D.M.

“…Mitochondrial DNA (mtDNA) disease is a common cause of myopathy and the presence of histochemically demonstrated cytochrome c oxidase (COX) deficiency is an…”
Get full text

Differential investment in pre‐ vs. post‐copulatory sexual selection reinforces a cross‐continental reversal of sexual size dimorphism in Sepsis punctum (Diptera: Sepsidae) by Puniamoorthy, N., Blanckenhorn, W. U., Schäfer, M. A.

“…Theory predicts that males have a limited amount of resources to invest in reproduction, suggesting a trade‐off between traits that enhance mate acquisition…”
Get full text

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation by Deschauer, M, Chinnery, P F, Schaefer, A M, Turnbull, D M, Taylor, R W, Zierz, S, Shanske, S, DiMauro, S, Majamaa, K, Wilichowski, E, Thorburn, D R

“…Pulkes et al have previously reported an increased risk of stroke associated with the presence of a homoplasmic, polymorphic (A12308G) variant in 48 patients…”
Get full text

Cellular and molecular insights into presynaptic assembly by Schaefer, Anneliese M, Nonet, Michael L

“…Little is known about the development of presynaptic specializations. Recent studies that visualize tagged synaptic components in cultured cells and in vivo…”
Get full text

Two distinct genomic regions, harbouring the period and fruitless genes, affect male courtship song in Drosophila montana by Lagisz, M, Wen, S-Y, Routtu, J, Klappert, K, Mazzi, D, Morales-Hojas, R, Schäfer, M A, Vieira, J, Hoikkala, A, Ritchie, M G, Butlin, R K

“…Acoustic signals often have a significant role in pair formation and in species recognition. Determining the genetic basis of signal divergence will help to…”
Get full text

rpm-1, A Conserved Neuronal Gene that Regulates Targeting and Synaptogenesis in C. elegans by Schaefer, Anneliese M., Hadwiger, Gayla D., Nonet, Michael L.

“…Little is known of mechanisms regulating presynaptic differentiation. We identified rpm-1 in a screen for mutants with defects in patterning of a presynaptic…”
Get full text

A scale to monitor progression and treatment of mitochondrial disease in children by Phoenix, C., Schaefer, A.M., Elson, J.L., Morava, E., Bugiani, M., Uziel, G., Smeitink, J.A., Turnbull, D.M., McFarland, R.

“…Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric…”
Get full text