Exploratory Design of a Hands-free Video Game Controller for a Quadriplegic Individual [PDF]
, 2021 From colored pixels to hyper-realistic 3D landscapes of virtual reality, video games have evolved immensely over the last few decades. However, video game input still requires two-handed dexterous finger manipulations for simultaneous joystick and trigger or mouse and keyboard presses.
arxiv +1 more source
Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
doaj +1 more source
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
Annals of Clinical and Translational Neurology, 2020 Background Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis.
Ana T. Marcos +8 more
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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.
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Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]
, 2013 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.
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Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months [PDF]
Annals of Child NeurologyPurpose This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease ...
Yun Jeong Lee +5 more
doaj +1 more source
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman
Sultan Qaboos University Medical Journal, 2017 Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord.
Roshan Koul +4 more
doaj +1 more source
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy [PDF]
, 2023 BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this
Bedat-Millet, Anne-Laure +22 more
core
Journal of Pediatric and Neonatal Individualized Medicine, 2016 Selected Lectures of the 12th International Workshop on Neonatology • 10 P PEDIATRICS: NOTES FOR THE FUTURE • Cagliari (Italy) • Cagliari (Italy) • October 19th-22nd, 2016 LECT 1. NEONATAL CONGENITAL HEART DISEASE: WHAT'S NEW? • S.
--- Various Authors
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Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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