Results 231 to 240 of about 12,639 (247)

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

Nature Medicine, 2022
Kevin A Strauss, Michelle A Farrar Mbbs
exaly  

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

Nature Medicine, 2022
Kevin A Strauss, Michelle A Farrar Mbbs, Francesco Muntoni   +2 more
exaly  

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

American Journal of Human Genetics, 2002
Brunhilde Wirth
exaly  

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

Human Molecular Genetics, 2011
Philippe Ravassard
exaly  

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

Genetics in Medicine, 2017
Linyan Meng, Jennifer Scull, Jianli Li
exaly  

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Human Genetics, 2008
Laura Alías, Sara Bernal, Pablo Fuentes-Prior   +2 more
exaly  

Disruption of the MAMP-Induced MEKK1-MKK1/MKK2-MPK4 Pathway Activates the TNL Immune Receptor SMN1/RPS6

Plant and Cell Physiology, 2019
Kazuya Akimitsu, Ryohei Terauchi, Ken Shirasu   +2 more
exaly  

Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı

2007
ÖZETAmaç: Otozomal resesif bir nöromüsküler hastalık olan Spinal Muskuler Atrofi, proksimalkaslarda ilerleyici tarzda güçsüzlük ve atrofi ile karakterizedir. Bu hastalık survival motorneuron gen 1 (SMN1)’in homozigot kaybı sonucu meydana gelir. Bu çalışmada SMN1geninde bulunan ekzon 7 ve 8’deki delesyonların sıklığı araştırılmıştır.Gereç ve yöntem ...
openaire   +2 more sources

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

European Journal of Human Genetics, 2004
Shuji Ogino, Robert B Wilson
exaly  

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

Journal of Human Genetics, 2015
Yuji Kubo
exaly