Results 91 to 100 of about 393,528 (292)
Spinal Muscular Atrophy and Arthrogryposis
Pediatric Neurology Briefs, 1997 Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj +1 more source
, 2018 Detailed proteomics data files from Shorrock et al., 2018 'UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy' (Accepted manuscript to be published in Brain)
Gillingwater, TH
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Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Arthritis Care &Research, EarlyView.Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
The impact of neurological impairment and tone on hip joint development
Journal of Children's OrthopaedicsPurpose: The purpose of this study was to define how different force environments by neuromuscular diagnosis (hypertonic versus hypotonic) impact the growth and morphology of the proximal femoral and acetabular regions relative to typically developing ...
Sadettin Ciftci +4 more
doaj +1 more source
Neuronal involvement in muscular atrophy
Frontiers in Cellular Neuroscience, 2014 The innervation of skeletal myofibers exerts a crucial influence on the maintenance of muscle tone and normal operation. Consequently, denervated myofibers manifest atrophy, which is preceded by an increase in sarcolemma permeability.
Bruno Alejandro Cisterna +4 more
doaj +1 more source
A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy
Objective: To determine whether oral creatine produces positive changes in any of 4 outcomes in children with spinal muscular atrophy (SMA). Methods: The authors conducted a randomized, double-blind, placebo-controlled trial on 55 patients aged 2-18 ...
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, 2022 Lo Spinal Muscular Atrophy Lab è il primo “laboratorio” di management che ha l’obiettivo di supportare i sistemi sanitari (regionali e aziendali), i professionisti e i pazienti nel migliorare la qualità delle cure per le persone affette da ...
Tozzi, Valeria D. +2 more
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Fabrication Routes for Ionic Conducting Fiber Strain Sensors
Advanced Engineering Materials, EarlyView.Ionic conducting fiber strain sensors (ICFSs) offer compliant, textile‐integrable sensing. Thus far, the commercialization of ICFSs has been constrained by fiber fabrication routes. This review provides a fabrication‐centric analysis of ICFSs correlating processing strategies with material properties and scalability.
Leo John Kershaw +3 more
wiley +1 more source
Proximal spinal muscular atrophy: current orthopedic perspective
, 2013 Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Fujak A, Haaker G
core
Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy
, 2016 Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad +7 more
core +1 more source