Results 51 to 60 of about 8,994,995 (387)

Genes for SMA: Multum in parvo

Cell, 1995
Benjamin Lewin
openalex   +3 more sources

NFL is a marker of treatment response in children with SMA treated with nusinersen

Journal of Neurology, 2019
BackgroundRecently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and our aim was to find a response marker for this treatment.MethodsTwelve children with SMA type 1 and two copies of the SMN2 gene were ...
B. Olsson, L. Alberg, N. Cullen, E. Michael, L. Wahlgren, A. Kroksmark, K. Rostásy, K. Blennow, H. Zetterberg, M. Tulinius   +9 more
semanticscholar   +1 more source

Submillimeter Array multiline observations of the massive star-forming region IRAS 18089-1732 [PDF]

, 2004
Submillimeter Array (SMA) observations of the high-mass star-forming region IRAS 18089-1732 in the 1 mm and 850 $\mu$m band with 1 GHz bandwidth reveal a wealth of information.
Beuther, H., Ho, P. T. P., Hunter, T. R., Lim, J., Liu, S. -Y., Ohashi, N., Sollins, P., Sridharan, T. K., Su, Y. N., Zhang, Q., Zhao, J. -H.   +10 more
core   +1 more source

Empirical examination of relationship between venture capital financing and profitability of portfolio companies in Uganda

Journal of Innovation and Entrepreneurship, 2022
In recent times, venture capital (VC) financing has evolved as an alternative feasible funding model for young innovative companies. Existing studies focus on whether VC enhances profitability. While helpful, this body of work does not address a critical
Ahmed I. Kato, Chiloane-Phetla E. Germinah   +1 more
doaj   +1 more source

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

One Year of Newborn Screening for SMA – Results of a German Pilot Project

Journal of Neuromuscular Diseases, 2019
Objective: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The study was conducted to assess the impact of early detection of SMA by newborn screening (NBS) on the clinical course of the disease.
K. Vill, H. Kölbel, O. Schwartz, A. Blaschek, B. Olgemöller, E. Harms, S. Burggraf, W. Röschinger, J. Durner, D. Gläser, U. Nennstiel, B. Wirth, U. Schara, Beate Jensen, M. Becker, K. Hohenfellner, W. Müller-Felber   +16 more
semanticscholar   +1 more source

The impact of driver mutation on the treatment outcome of early-stage lung cancer patients receiving neoadjuvant immunotherapy and chemotherapy

Scientific Reports, 2022
Neoadjuvant immunotherapy and chemotherapy have improved the major pathological response (MPR) in patients with early-stage operable non-small cell lung cancer (NSCLC).
Po-Lan Su, Jung-Yueh Chen, Chang-Yao Chu, Yi-Lin Chen, Wan-Li Chen, Kuan-Yu Lin, Chung-Liang Ho, Jeng-Shiuan Tsai, Szu-Chun Yang, Chian-Wei Chen, Yi-Lin Wu, Yau-Lin Tseng, Chao-Chun Chang, Yi-Ting Yen, Chia-Ying Lin, Chien-Chung Lin, Wu-Chou Su   +16 more
doaj   +1 more source

The L723 low mass star forming protostellar system: resolving a double core

, 2008
We present 1.35 mm SMA observations around the low-mass Class 0 source IRAS 19156+1906, at the the center of the L723 dark cloud. We detected emission from dust as well as emission from H2CO, DCN and CN, which arise from two cores, SMA 1 and SMA 2 ...
Anglada, Anglada, Carrasco-González, Chen, Codella, Danby, Draine, Estalella, Furuya, Girart, Girart, Hirano, Hogerheijde, J. M. Girart, Launhardt, Lee, Ossenkopf, Palacios, R. Estalella, R. Rao, Rodríguez, Shirley   +21 more
core   +1 more source

Retinal layer assessments as potential biomarkers for brain atrophy in the Rhineland Study

Scientific Reports, 2022
Retinal assessments have been discussed as biomarkers for brain atrophy. However, available studies did not investigate all retinal layers due to older technology, reported inconsistent results, or were based on small sample sizes.
Matthias M. Mauschitz, Valerie Lohner, Alexandra Koch, Tony Stöcker, Martin Reuter, Frank G. Holz, Robert P. Finger, Monique M. B. Breteler   +7 more
doaj   +1 more source

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

CNS Drugs, 2019
Treatment with nusinersen has demonstrated significant and clinically meaningful benefits in clinical trials in infants and children with spinal muscular atrophy (SMA).
B. Darras, M. Farrar, E. Mercuri, R. Finkel, R. Foster, S. Hughes, I. Bhan, W. Farwell, S. Gheuens   +8 more
semanticscholar   +1 more source