Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Rosetta Marotta"'
Publikováno v:
Mitochondrion. 54:128-132
Leber hereditary optic neuropathy (LHON) is a neurodegenerative disorder characterised by bilateral, painless, subacute, central vision loss caused by pathogenic sequence variants in mitochondrial DNA (mtDNA). Over the course of 20 years, 734 people
Publikováno v:
Mitochondrion. 17:34-41
The nucleotide change A to G at position m.3243 in the mitochondrial tRNA leucine (UUR) gene (MT-TL1) is the most common point mutation reported in association with the Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS)
Autor:
Judy Chin, Dominic Thyagarajan, Samuel F. Berkovic, Penelope J Spring, Chris Plummer, David M Sharpe, Graham R. Taylor, Nicholas A. Athanasou, Rosetta Marotta
Publikováno v:
Mitochondrion. 13:269-276
Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The pathoetiology of lipoma tissue in MSL remains unresolved. Seven patients with MSL were followed for a mean period of 12
Autor:
Rosetta Marotta, Penelope A McKelvie, David R. Thorburn, Bernard Infeld, Steven J. Collins, Judy Chin
Publikováno v:
Journal of Clinical Neuroscience. 19:195-202
We report an illustrative case of a 74-year-old man who, in the absence of intercurrent illness, presented with rapid cognitive decline. MRI showed bilateral, symmetrical, high T2-weighted signal in the anterior basal ganglia and medial thalami, exte
Autor:
Edward Byrne, Anita F. Quigley, Robert M. I. Kapsa, Sophie Katsabanis, Rosetta Marotta, Judy Chin, Steven J. Collins
Publikováno v:
Internal Medicine Journal. 34:10-19
Background: Many diverse pathogenic mitochondrial DNA (mtDNA) mutations have been described since 1988. The Melbourne Neuromuscular Research Institute (MNRI) has undertaken diagnostic detection of selected mtDNA mutations since 1990. MtDNA mutations
Publikováno v:
Journal of Muscle Research and Cell Motility. 18:133-148
A cell line of mesodermal origin, FS9, was found to release a Cell Orienting Factor into its culture medium. In contrast with the random migration of controls, the orienting activity causes migrating mesenchymal cells to form an orderly "halo' surrou
Autor:
Judy Chin, David R. Thorburn, S. Punchihewa, Penny McKelvie, Steven J. Collins, Rosetta Marotta
Publikováno v:
Neuromuscular disorders : NMD. 22(5)
This 54year old woman presented with symptoms of sensory ataxic neuropathy, with cerebellar features. She developed further weakness, visual disturbances with diplopia, dysarthria and dysphasia. After her death at 66years, she was found to have compo
Autor:
Sharon Lewis, Dominic Thyagarajan, Wendy M. Hutchison, Rosetta Marotta, Lisa Di Nezza, H.-H. M. Dahl
Publikováno v:
FEBS Letters. 500:183-185
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 18(2)
A high number of cytochrome c oxidase (COX)-negative muscle fibres (approximately 45%) without ragged red fibres was found in a 27-year-old male patient with a single unprovoked episode of severe rhabdomyolysis. There was no family history of neuromu
Autor:
Jan-Willem Taanman, Robert W. Taylor, David R. Thorburn, Rosetta Marotta, Alistair T. Pagnamenta, Andrew J. Duncan, Shamima Rahman, Maria Bitner-Glindzicz, Callum Wilson, Neil E Anderson, Adrienne Laskowski
Publikováno v:
Human reproduction (Oxford, England). 21(10)
BACKGROUND: Premature ovarian failure (POF) results in menopause before the age of 40. Recently, mutations in the catalytic subunit of mitochondrial DNA polymerase gamma (POLG) were shown to segregate with POF in families with progressive external op