Results 11 to 20 of about 19,843 (235)

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

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]

, 2008
The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina, Hof, Patrick R., Islam, Atiqul, Jovanov Milošević, Nataša, Krušlin, Božo, Lucassen, Paul J., Mladinov, Mihovil, Pajtak, Alen, Sertić, Jadranka, Šešo Šimić, Đurđica, Šimić, Goran   +10 more
core   +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

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

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +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

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

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, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +8 more sources

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source