NARP


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NARP

(nahrp),
Acronym for neuropathy, ataxia, retinitis pigmentosa syndrome, one of the inherited mitochondrial disorders, caused by a point mutation resulting in the substitution of a single amino acid in the mitochondrial DNA at position 8993. A more severe expression of the same point mutation manifests clinically as Leigh disease (q.v.).

NARP

Neurogenic muscle weakness, ataxia, & retinitis pigmentosa A mitochondrial disease characterized by ↓ muscle strength and coordination, regional brain degeneration, retinal deterioration. See Mitochondrial disease.
References in periodicals archive ?
These disorders include familial bilateral striatal necrosis (FBSN), MILS, and NARP, and they can be caused by MT-ATP6 mutations (Schon et al.
The primary objectives of the NARP are to provide programs that encourage the safe integration of empty aerosols into municipal recycling programs and provide regulators and the public with accurate science-based information about aerosols.
32 million project had improved the section between Mount Garnet and The Lynd, and its completion was a milestone for the flagship NARP funding program.
NARP also announced the "Most Improved" Scrap Supplier for 2010.
The Federal government originally allocated $375 million in NARP funding for Queensland in their last budget, but they went back on their word giving us just $223.
The purpose of this presentation will be to describe the supportive/palliative care assessment tool currently being used in NARP to adequately identify patients experiencing significant suffering and those patients with a high risk of death in the coming year.
Three patients with complex V deficiency (Leigh/ NARP T8993G/C mutation in the MT-ATP6 gene) showed a decreased oxidation rate in incubation 1, decreased ATP production, decreased oxidation rate in incubation 6 in patients 24 and 26, and an increased incubation 4/incubation 1 ratio in patients 25 and 26.
With this proven strategy, NARP Scrap Purchasing has been able to sustain our scrap purchasing requirements in a highly dynamic and changing marketplace.
The Turnbull Government in its 2016-17 budget allocated just over $375 million in NARP funding for Queensland and based on this we put forward 26 projects, Mr Bailey said.
NARP is encouraging home-based therapies and with program growth and limited resources, we wanted to find a way to build capacity in the ED to improve patient care and reduce calls back for basic PD procedures that emergency nurses are capable of performing.
It therefore eliminates the need to synthesize expensive fluorescent probes and can be easily expanded for the analysis of other common mtDNA mutations, such as A8344G for the MERRF (myoclonic epilepsy and ragged red fiber) syndrome, T8993G and T8993C for NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome, and the detection of homoplasmic LHON (Leber hereditary optic neuropathy) mutations.