Search
Results: 5
The role of tRNA synthetases in neurological and neuromuscular disorders.
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNAs with their cognate amino acids, therefore essential for the first step in protein synthesis. Although the majority of protein...
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Robert DS Pitceathly, Conrad Smith, Carl Fratter, Charlotte L Alston, Langping He, Kate Craig, Emma L Blakely, Julie C Evans, John Taylor, Zarfishan Shabbir, Marcus Deschauer, Ute Pohl, Mark E Roberts, Matthew C Jackson, Christopher A Halfpenny, Peter D Turnpenny, Peter W Lunt, Michael G Hanna, Andrew M Schaefer, Robert McFarland, Rita Horvath, Patrick F Chinnery, Douglass M Turnbull, Joanna Poulton, Robert W Taylor, Gráinne S Gorman
Mar 07, 2019
Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA...
'It's a hard conversation to have'. Healthcare professionals' views concerning advance care discussions with young people affected by life-limiting neuromuscular diseases
OBJECTIVE: Life-limiting neuromuscular disease, such as some of the muscular dystrophies, are often diagnosed in early childhood: when death comes, commonly in the second or third decade of life, patients rarely have advance...
communication Family management Neurological conditions Supportive care Transitional Care Adolescent advance care planning Attitude of Health Personnel Attitude to Health communication Critical Illness Health Personnel Humans Neuromuscular diseases Professional-Patient Relations Terminal Care Young Adult
Advance care discussions with young people affected by life-limiting neuromuscular diseases
End of life care policy in the UK advocates open discussions between health professionals and patients as the end of life approaches. Despite well documented understanding of the progression of life-limiting neuromuscular...
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.
SE Flanagan, F Vairo, MB Johnson, R Caswell, TW Laver, H Lango Allen, K Hussain, S Ellard
Dec 01, 2017
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes...
CACNA1D calcium channel Exome Sequencing Hyperinsulinism hypoglycaemia Amino Acid Substitution Aortic Valve Insufficiency Calcium Channels L-Type DNA Mutational Analysis Developmental Disabilities Female Fetal Macrosomia Heart Defects Congenital Humans Hyperinsulinism Hypoglycemia Infant Newborn Muscle Hypotonia Mutation Neuromuscular diseases