Results 101 to 110 of about 2,046 (140)

Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy [PDF]

This work was supported by an Agency for Science, Technology and Research (A*STAR) CDF grant number C210112024 (to CJJY). Acknowledgments to Dave Wee, Edward Manser, Frederick Bard, and Uttam Surana from A*STAR for scientific discussions and to Shaye ...
Darras, Basil T, Giadone, Richard M, Khong, Zi Jian, Koh, Hiromi Wl, Leow, Damien Meng-Kiat, Narayanan, Gunaseelan, Ng, Shi-Yan, Ng, Yang Kai, Ong, Wei-Yi, Parson, Simon H, Rubin, Lee L, Sobota, Radoslaw M, Tabaglio, Tommaso, Teo, Adrian Kk, Wang, Loo Chien, Yeo, Crystal Jj, Zhao, Tianyun   +16 more
core   +1 more source

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

Molecular Therapy: Methods & Clinical Development
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment.
Ilaria Signoria, Maria M. Zwartkruis, Lotte Geerlofs, Elena Perenthaler, Kiterie M.E. Faller, Rachel James, Harriet McHale-Owen, Jared W. Green, Joris Kortooms, Sophie H. Snellen, Fay-Lynn Asselman, Thomas H. Gillingwater, Gabriella Viero, Renske I. Wadman, W. Ludo van der Pol, Ewout J.N. Groen   +15 more
doaj   +1 more source

Presymptomatic risdiplam treatment in an infant with homozygous SMN1 deletion and two SMN2 copies: age-appropriate motor development at 6 months

Egyptian Pediatric Association Gazette
Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons.
Süleyman Şahin, Mehmet Alçı, Büşra Kaygusuz Aydemir, Fatma Sargın, Halil Çelik   +4 more
doaj   +1 more source

Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers

Neurology and Therapy
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein.
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller   +5 more
doaj   +1 more source

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy

Acta Neurologica Taiwanica
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease characterized by progressive weakness and atrophy of skeletal muscles. With homozygous survival motor neuron 1 (SMN1) gene mutation, all SMA patients have at least one copy of ...
Li-Kai Tsai, Chen-Hung Ting, Yo-Tsen Liu, Cheng-Tsung Hsiao, Wen-Chin Weng, Society for Neurological Rare Disorders-Taiwan   +5 more
doaj   +1 more source

Evaluation of disease progression and response to therapy in a cohort of late childhood/adulthood SMA patients: Is there room for new markers? [PDF]

, 2023
LUPICA, Antonino
core  

Spinal muscular atrophy:From approved therapies to future therapeutic targets for personalized medicine [PDF]

, 2021
Chaytow, Helena, Faller, Kiterie, Gillingwater, Thomas H, Huang, Yu-ting   +3 more
core   +1 more source

Synergistic Effect of an Antisense Oligonucleotide and Small Molecule on Splicing Correction of the Spinal Muscular Atrophy Gene

Neuroscience Insights
Spinal muscular atrophy (SMA) is treated by increasing the level of Survival Motor Neuron (SMN) protein through correction of SMN2 exon 7 skipping or exogenous expression of SMN through gene therapy.
Eric W Ottesen, Ravindra N Singh
doaj   +1 more source

“Not Only Has She Survived, But She Lives a Happy Life”: Parents’ Perspectives and Experiences of a Novel Disease-Modifying Therapy for Spinal Muscular Atrophy in Sweden [PDF]

The objective of this prospective cohort study was to explore parents' perspectives of patients' experiences of the first available novel disease-modifying therapy for SMA in Sweden.
Cortina-Borja, Mario, Kreicbergs, Ulrika, Landfeldt, Erik, Sejersen, Thomas, Udo, Camilla   +4 more
core  

Evaluating effects of risdiplam in adults with spinal muscular atrophy: a monocentric study. [PDF]

ERJ Open Res
Crescimanno G, Alonge P, Lupica A, Tomasello V, Di Stefano V, Brighina F, Marrone O.   +6 more
europepmc   +1 more source