Results 21 to 30 of about 245,637 (381)
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Severity classification in cases of Collagen VI-related myopathy with Convolutional Neural Networks and handcrafted texture features [PDF]
2022 IEEE International Conference on Image Processing (ICIP),
Bordeaux, France, 2022 Magnetic Resonance Imaging (MRI) is a non-invasive tool for the clinical assessment of low-prevalence neuromuscular disorders. Automated diagnosis methods might reduce the need for biopsies and provide valuable information on disease follow-up. In this paper, three methods are proposed to classify target muscles in Collagen VI-related myopathy cases ...
arxiv +1 more source
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2009 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett +33 more
core +1 more source
Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
core +1 more source
Sensors, 2023 This cross-sectional study, conducted at a tertiary care hospital’s rehabilitation clinic, aimed to validate Short Physical Performance Battery (SPPB) results obtained through plantar pressure analysis using commercial smart insoles (SPPB-SI) and to ...
Chan Woong Jang +4 more
doaj +1 more source
Genetic neuromuscular disease [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2002 The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Michael G. Hanna, Mary M. Reilly
openaire +3 more sources
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]
, 2015 Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh +49 more
core +8 more sources
Disease Models & Mechanisms, 2019 A wide range of genetic mouse models is available to help researchers dissect human disease mechanisms. Each type of model has its own distinctive characteristics arising from the nature of the introduced mutation, as well as from the specific changes to
Francesca De Giorgio +3 more
doaj +1 more source
Split hand phenomenon: An early marker for amyotrophic lateral sclerosis
Revista Mexicana de Neurociencia, 2021 Background: Amyotrophic lateral sclerosis (ALS) is a progressive disease characterized by degeneration of upper and lower motor neurons. Time from symptom onset to confirmed diagnosis has been reported from 8 to 15 months in ALS.
Javier A. Galnares-Olalde +4 more
doaj +1 more source