Results 51 to 60 of about 608,413 (188)

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]

, 2009
Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Hazel P Williams, Greensmith Linda, Francesca Achilli, Ruth Chia, Elizabeth M. C. Fisher, Hazel P. Williams, Fisher Elizabeth M. C., Achilli, F., Chia, R, Bryson, J.B., Bros-Facer, V., Greensmith, L., Bros-Facer, V, Banks, G.T., Bryson, JB, Banks, GT, Fisher, EMC, Bros-Facer Virginie, Linda Greensmith, Fisher, E.M.C., Banks Gareth T., Chia, R., Gareth T Banks, Williams, HP, Greensmith, L, Williams Hazel P., Elizabeth M C Fisher, J Barney Bryson, Gareth T. Banks, Virginie Bros-Facer, Achilli Francesca, Williams, H.P., Bryson J. Barney, Chia Ruth, J. Barney Bryson, Achilli, F   +35 more
core   +1 more source

Insights into spinal muscular atrophy from molecular biomarkers

Neural Regeneration Research
Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving
Xiaodong Xing, Xinzhu Liu, Xiandeng Li, Mi Li, Xian Wu, Xiaohui Huang, Ajing Xu, Yan Liu, Jian Zhang   +8 more
doaj   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

Case Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave   +3 more
doaj   +1 more source

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus

Clinical Neurophysiology Practice, 2017
Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue, Yasuhiro Kojima, Masutaro Kanda, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano, Hiroshi Shibasaki   +6 more
doaj   +1 more source

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

The impact of neurological impairment and tone on hip joint development

Journal of Children's Orthopaedics
Purpose: 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, Luiz Carlos Almeida da Silva, Jason J Howard, Michael Wade Shrader, Freeman Miller   +4 more
doaj   +1 more source

Casting Light on Mechanical Properties of Lower and Upper Extremity Muscles in Children with Spinal Muscular Atrophy and Healthy Peers

Archives of Health Science and Research
Objective: 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, Tülay ÇEVİK-SALDIRAN, Özgül ÖZTÜRK, Sedat ÖKTEM   +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, Annapoorna Kannan, Kannan, Aannapoorna, Gangwani, Laxman, Ahmad, Saif, Laxman Gangwani, Bhatia, Kanchan, Kanchan Bhatia   +7 more
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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, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source