Results 11 to 20 of about 20,899 (290)

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

Neurol Ther
Bar-Chama N, Elsheikh B, Hewamadduma C, Guittari CJ, Gorni K, Mueller L.   +5 more
europepmc   +3 more sources

Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study). [PDF]

Neurol Ther, 2021
Madruga-Garrido M, Vázquez-Costa JF, Medina-Cantillo J, Brañas M, Cattinari MG, de Lemus M, Díaz-Abós P, Sánchez-Menéndez V, Terrancle Á, Rebollo P, Maurino J.   +10 more
europepmc   +3 more sources

Spinal muscular atrophy (SMA) type II with scoliosis

, 2010
Yaïr Glick
openaire   +2 more sources

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report

Journal of Cardiothoracic Surgery, 2023
Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer, Şima Kozan, Figen Öztürk, Ayfer Arduç Akçay   +3 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene

Stem Cell Research, 2023
Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death.
Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu   +7 more
doaj   +1 more source

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +7 more sources

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]

, 2012
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas, AD Ebert, B Wirth, BJ Turner, C Cifuentes-Diaz, Chantal A. Mutsaers, CL Lorson, CM McCann, CM Mutsaers, CS Lobsiger, D Angaut-Petit, Derek Thomson, G Feng, G Valdez, G Vrbova, Gillian Hamilton, GZ Mentis, H Ilieva, Huaibin Cai, J Hegedus, J Pearn, JN Sleigh, Joya E. Nahon, K Talbot, KK Ling, KK Ling, L Kong, LM Murray, LM Murray, LM Murray, LR Fischer, M Ruggui, MC Brown, MR Lunn, R Dengler, S Kariya, S Kariya, S Lefebvre, S Pun, S Saxena, Simon H. Parson, Sophie R. Thomson, SR Thomson, T Yamazaki, TH Gillingwater, Thomas H. Gillingwater, UR Monani, WG Bradley, Z Feng   +48 more
core   +10 more sources

Therapeutic approaches for spinal muscular atrophy (SMA) [PDF]

Gene Therapy, 2017
Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to severe motor neuron dysfunction, secondary to mutations in the survival motor neuron 1 (SMN1) gene.
Scoto, M., Finkel, R. S., Mercuri, E., Muntoni, F.   +3 more
openaire   +4 more sources

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +3 more sources

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources