Results 21 to 30 of about 888,799 (202)

The Classical Complement Pathway Mediates Microglia-Dependent Remodeling of Spinal Motor Circuits during Development and in SMA

Cell Reports, 2019
Summary: Movement is an essential behavior requiring the assembly and refinement of spinal motor circuits. However, the mechanisms responsible for circuit refinement and synapse maintenance are poorly understood.
Aleksandra Vukojicic, Nicolas Delestrée, Emily V. Fletcher, John G. Pagiazitis, Sethu Sankaranarayanan, Ted A. Yednock, Ben A. Barres, George Z. Mentis   +7 more
doaj   +1 more source

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

Kosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source

Pharmacological c-Jun NH2-Terminal Kinase (JNK) Pathway Inhibition Reduces Severity of Spinal Muscular Atrophy Disease in Mice

Frontiers in Molecular Neuroscience, 2018
Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder that occurs in early childhood. The disease is caused by the deletion/mutation of the survival motor neuron 1 (SMN1) gene resulting in progressive skeletal muscle atrophy and paralysis,
Roberta Schellino, Marina Boido, Marina Boido, Tiziana Borsello, Tiziana Borsello, Alessandro Vercelli, Alessandro Vercelli   +6 more
doaj   +1 more source

Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila

Nature Communications, 2020
Spinal muscular atrophy (SMA) is associated with minor splicing-related defects. Here the authors develop Drosophila models with minor spliceosomal-snRNA deletions, and demonstrate SMA-like phenotypes.
Liang Li, Zhan Ding, Ting-Lin Pang, Bei Zhang, Chen-Hui Li, An-Min Liang, Yu-Ru Wang, Yu Zhou, Yu-Jie Fan, Yong-Zhen Xu   +9 more
doaj   +1 more source

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS, Andrew R Gross, Heidi R Fuller, Catherine H Botting, Berhan eMandefro, Sally L Shirran, Anjoscha Samija Kaus, Fuller, HR, Dhruv eSareen, Glenn E Morris, Shirran, Sally Lorna; id_orcid   +33 more
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Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Annals of Clinical and Translational Neurology, 2021
Objective To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q ...
Maren Freigang, Claudia D. Wurster, Tim Hagenacker, Benjamin Stolte, Markus Weiler, Christoph Kamm, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Alexander Kowski, Thomas Meyer, Jan C. Koch, Isabell Cordts, Marcus Deschauer, Paul Lingor, Elisa Aust, Daniel Petzold, Albert C. Ludolph, Björn Falkenburger, Andreas Hermann, René Günther   +20 more
doaj   +1 more source

Timing is everything:Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy (SMA) [PDF]

, 2022
Two new studies by Strauss et al. demonstrated safe and effective pre-symptomatic delivery of gene therapy in children with spinal muscular atrophy (SMA). These results highlight the importance of newborn screening programs and early therapy delivery for
Motyl, Anna, Motyl, Anna A.L., Gillingwater, Thomas H, Thomas H. Gillingwater, Gillingwater, Thomas H., Anna A.L. Motyl   +5 more
core   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth, Sleeman, Judith Elizabeth; id_orcid   +3 more
core   +1 more source

Anesthetic management of a child with spinal muscular atrophy

Amrita Journal of Medicine, 2023
Spinal muscular atrophy (SMA) is a rare autosomal disorder associated with degeneration of motor neurons. Bulbar dysfunction predisposes to aspiration. We present the anesthetic management of a child with SMA managed with general anesthesia and abdominal
Dimple E Thomas, Geethu Sebastian, Joel Irimpan, Lakshmi Kumar   +3 more
doaj   +1 more source

Case Report: A case of spinal muscular atrophy with extensively drug-resistant Acinetobacter baumannii pneumonia treated with nebulization combined with intravenous polymyxin B: experience and a literature review

Frontiers in Cellular and Infection Microbiology, 2023
Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in progressive and symmetric muscle weakness and atrophy of the proximal limbs and trunk due to degeneration of spinal alpha-motor neurons.
Bingqing Cao, Ling Cao
doaj   +1 more source