Results 191 to 200 of about 12,639 (247)

SMN1 and NAIP Genes Deletions in Different Types of Spinal Muscular Atrophy in Khuzestan Province, Iran

, 2011
Seyed Reza, Kazemi Nezhad, Fatemeh mosavi, Ali Akbar Momen, Hamid Galehdari   +4 more
openalex   +1 more source

Female Aging Affects Coilin Pattern in Mouse Cumulus Cells. [PDF]

J Dev Biol
Anisimov AS, Bogolyubov DS, Bogolyubova IO.   +2 more
europepmc   +1 more source

749. SMA Based Therapeutic Trans-Splicing RNAs Repair SMN1 Deficiency

Molecular Therapy, 2007
openaire   +1 more source

Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy. [PDF]

BMC Biotechnol
Wijaya YOS, Ar Rochmah M, Nurputra DK, Farmawati A.   +3 more
europepmc   +1 more source

Experimental analysis of the influence of context awareness on service discovery in PNs [PDF]

, 2006
Bauer, Martin, Nickelsen, Anders, Nielsen, Jimmy Jessen, Olsen, Rasmus Løvenstein, Schwefel, Hans-Peter   +4 more
core  

Mifepristone alone and in combination with scAAV9- SMN1 gene therapy improves disease phenotypes in Smn ^2B/- spinal muscular atrophy mice

Emma R Sutton, Eve McCallion, Joseph M. Hoolachan, Özge Çetin, Paloma Pacheco-Torres, Sihame Bouhmidi, Lauren Churchill, Taylor Scaife, Helena Chaytow, Yu-Ting Huang, Stéphanie Duguez, Bernard L. Schneider, Thomas H. Gillingwater, Maria Dimitriadi, Mélissa Bowerman   +14 more
openalex   +1 more source

Preclinical evaluation of AAV9-coSMN1 gene therapy for spinal muscular atrophy: efficacy and safety in mouse models and non-human primates. [PDF]

Mol Med
Ma W, Wu Z, Zhao T, Xia Y, Qin J, Tian X, Li X, He J, Zhang Y, Zhang L, Li L, Dong Z, Feng Z, Dong X, Sheng W, Wu X.   +15 more
europepmc   +1 more source

Administration of Onasemnogene Abeparvovec in an Infant With Spinal Muscular Atrophy and PCR-Confirmed SARS-CoV-2 Infection. [PDF]

Cureus
Shimomura I, Maruyama S, Kodama Y, Matsunaga M, Okamoto Y.   +4 more
europepmc   +1 more source

A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions. [PDF]

Int J Mol Sci
Tan VJ, Liang Y, Tan AS, Wong S, Asherah N, Chua P, Lee CG, Choolani MA, Dang T, Chong SS.   +9 more
europepmc   +1 more source

Scoliosis correction in spinal muscular atrophy : the influence of genetic severity, functional level, and disease-modifying agents on postoperative outcomes. [PDF]

Bone Jt Open
Çiftci S, Shrader MW, Hori Y, Scavina M, Heinle R, Mackenzie WG, Howard JJ.   +6 more
europepmc   +1 more source