Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Annals of Clinical and Translational Neurology, 2022 Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz +20 more
doaj +1 more source
Shape Analysis for Pediatric Upper Body Motor Function Assessment [PDF]
arXiv, 2022 Neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), cause progressive muscular degeneration and loss of motor function for 1 in 6,000 children. Traditional upper limb motor function assessments do not quantitatively measure patient-performed motions, which makes it difficult to track progress for ...
arxiv
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]
, 2018 Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018)., +10 more
core +1 more source
Rehabilitation in spinal muscular atrophy
Medycyna Ogólna i Nauki o Zdrowiu, 2021 Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj +1 more source
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]
, 2016 Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun +15 more
core +3 more sources
Automated brainstem parcellation using multi-atlas segmentation and deep neural network [PDF]
, 2021 About 5-8% of individuals over the age of 60 have dementia. With our ever-aging population this number is likely to increase, making dementia one of the most important threats to public health in the 21st century. Given the phenotypic overlap of individual dementias the diagnosis of dementia is a major clinical challenge, even with current gold ...
arxiv +1 more source
PROGRESSIVE MUSCULAR ATROPHY (?) [PDF]
The Journal of Nervous and Mental Disease, 1899 n ...
openaire +2 more sources
Iranian Journal of Public Health, 2020 The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI +4 more
doaj +1 more source
A Causal Inference Framework for Leveraging External Controls in Hybrid Trials [PDF]
arXiv, 2023 We consider the challenges associated with causal inference in settings where data from a randomized trial is augmented with control data from an external source to improve efficiency in estimating the average treatment effect (ATE). Through the development of a formal causal inference framework, we outline sufficient causal assumptions about the ...
arxiv
Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]
, 2013 BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H. +4 more
core +3 more sources