Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Response-Oriented Patient Evaluation Survey (ROPES): An Administrator's Tool for Identifying- Opportunities for Service Quality Improvement [PDF]
, 1998 Suzan N. Kucukarslan
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Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang +16 more
wiley +1 more source
Using situation analysis to assess women's perceptions of quality of maternal-child health and family planning services [PDF]
, 1998 Karen Stein
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Handling rescue therapy in myasthenia gravis clinical trials: why it matters and why you should care
Annals of Clinical and Translational Neurology, EarlyView.Abstract Myasthenia gravis (MG) clinical trials typically allow rescue therapy during follow‐up in the event of marked worsening of MG symptoms. Failure to appropriately address rescue therapy in defining treatment effects and planning statistical analyses may yield biased estimates, increase false positive rates, or decrease statistical power – all of
Justin M. Leach +3 more
wiley +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Improving the quality of pain management in children: A community-based pediatric pain service
, 1991 J. Feret +7 more
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The use of Total Quality Management (TQM) in libraries and information services in Australia and overseas [PDF]
, 1996 Mick Cooper
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn +17 more
wiley +1 more source
Quality, Standards, Organisational and Clinical Audit for Hospice and Palliative Care Services
, 1993 Graham Thorpe
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