Results for &quot;&quot;Survival of Motor Neuron 2 Protein&quot;&quot;[mesh_terms]

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

Kevin A Strauss, Michelle A Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Macek

Nature medicine 2022;28(7):1381-1389

Splicing therapeutics in SMN2 and APOB.

Adrian R Krainer, Bernard Khoo

Current opinion in molecular therapeutics 2009;11(2):108-15

Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec.

Julie A Parsons, Susana Quijano-Roy, Sharon Aharoni, Eduardo F Tizzano, Richard S Finkel, Laurent Servais, Arpita Lakhotia

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024;53():18-24

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.

Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Song

Genetic testing and molecular biomarkers 2015;18(8):546-51

Molecular inversion probe-rolling circle amplification with single-strand poly-T luminescent copper nanoclusters for fluorescent detection of single-nucleotide variant of SMN gene in diagnosis of spinal muscular atrophy.

Chung-An Chen, Chun-Chi Wang, Hwang-Shang Kou, Shou-Mei Wu

Analytica chimica acta 2021;1123():56-63

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.

Karolina Aragon-Gawinska, Andreea M Seferian, Aurore Daron, Elena Gargaun, Carole Vuillerot, Claude Cances, Juliette Ropars, Mondher Chouchane, Inge Cuppen, Imelda Hughes, Marjorie Illingworth, Chiara Marini-Bettolo, Jerome Rambaud, Jessica Taytard, Melanie Annoussamy, Mariacristina Scoto, Teresa Gidaro, Laurent Servais

Neurology 2019;91(14):e1312-e1318

Spinal muscular atrophy and therapeutic prospects.

Brunhilde Wirth, Lars Brichta, Eric Hahnen

Progress in molecular and subcellular biology 2007;44():109-32

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

B Wirth

Human mutation 2000;15(3):228-37

Risdiplam in Presymptomatic Spinal Muscular Atrophy.

Richard S Finkel, Laurent Servais, Dmitry Vlodavets, Edmar Zanoteli, Maria Mazurkiewicz-Bełdzińska, Yuh-Jyh Jong, Aledie Navas-Nazario, Mohammad Al-Muhaizea, Alexandra P Q C Araujo, Leslie Nelson, Yi Wang, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Laura Palfreeman, Michael Rabbia, Dave Summers, Eleni Gaki, Kathryn R Wagner, Paulo Fontoura, Michelle A Farrar, Enrico Bertini

The New England journal of medicine 2025;393(7):671-682

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, Petra Kaufmann, Peter Juhasz, Xiaohong Li, Yu Guo, Rebecca H Li, Felicia Trachtenberg, Suzanne J Forrest, Dione T Kobayashi, Karen S Chen, Cynthia L Joyce, Thomas Plasterer

PloS one 2012;7(4):e35462