Results 51 to 60 of about 641,821 (189)
Spinal Muscular Atrophy Genotype Distribution.
, 2013 Spinal Muscular Atrophy Genotype Distribution.
Chih-Chao Yang (160072) +10 more
core +1 more source
Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report [PDF]
, 2016 Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein.
Jun Zhang, Yu Wan
core +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
Archives of Health Science and ResearchObjective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ +3 more
doaj +1 more source
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
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
Spinal muscular atrophy — challenges in the therapeutic era
, 2020 With the advent of disease-modifying therapies for spinal muscular atrophy, prenatal and extra-neural alterations associated with the condition have garnered increasing attention as potential determinants of the therapeutic window and efficacy of novel ...
Corti S., Faravelli I.
core +1 more source
Rehabilitation in spinal muscular atrophy
The Journal of the International Society of Physical and Rehabilitation Medicine, 2019 Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead +3 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 ...
core +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
core +1 more source