Results 11 to 20 of about 1,154 (251)
Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]
, 2014 As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core +1 more source
The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]
, 2014 The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman +2 more
core +1 more source
Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]
, 2014 Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core +1 more source
, 2001 The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information ...
Davies, Kay, Talbot, Kevin
core +2 more sources
, 2004 Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy,
P. Boccella +5 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]
, 2013 Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core
Blood selenium in chronic spinal muscular atrophy
, 1979 The spinal muscular atrophies (SMA) of childhood comprise the second most common fatal recessive disease after cystic fibrosis, yet the nature of the biochemical defect causing the anterior horn cell degeneration is totally unknown.
Pearn, John, McCray, C. W.R.
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source