Results 61 to 70 of about 12,639 (247)

Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing

Chinese Medical Journal, 2018
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and evaluate a new diagnostic method for SMA.
Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin, Hong Wang, Fang Song   +6 more
doaj   +1 more source

1/N Perturbations in Superstring Bit Models

, 2015
We develop the 1/N expansion for stable string bit models, focusing on a model with bit creation operators carrying only transverse spinor indices a=1,...,s.
Thorn, Charles B.
core   +1 more source

Phosphatase and tensin homologue: a therapeutic target for SMA [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the most common juvenile neurodegenerative diseases, which can be associated with child mortality. SMA is caused by a mutation of ubiquitously expressed gene, Survival Motor Neuron1 (SMN1), leading to reduced SMN ...
AH Burghes, AK Bevan, AS Arnold, B Trulzsch, C Carissimi, C Simone, CJ DiDonato, CL Lorson, CR Heier, D Buhler, D Little, D Sareen, DJ Freeman, DJ Yang, E Hajduch, ER Hollis 2nd, G Battaglia, G Hamilton, H Liu, H Rindt, HL Zhang, HM Hsieh-Li, HR Fuller, I Tein, J Branchu, J Gu, J Pearn, J Peltier, J Ramser, J Yong, JC Chang, JH Chung, JH Pearn, JO Lee, JR Bach, JV McGivern, K Bilguvar, K Liu, K Ning, KD Foust, KK Park, L Cartegni, L Schnell, L Schnell, L Van Den Bosch, L Viollet, LC Trotman, M Azzouz, M Bowerman, M Bowerman, MB Lachyankar, MM Martin, N Roy, ND Mazarakis, NK Genabai, RA Powis, S Jablonka, S Lefebvre, S Lefebvre, S Majumder, S Rudnik-Schoneborn, S Shanmugarajan, S Zhang, T Baughan, TM Wishart, TW Prior, U Felderhoff-Mueser, UR Monani, V Stambolic, W Rossoll, Y Zhang, Y Zhu, ZY Cheng   +72 more
core   +1 more source

A new line method; A direct test in spinal muscular atrophy screening for DBS

Molecular Genetics & Genomic Medicine, 2023
Background Nucleic acid‐based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high‐throughputs in SMA to detect a
Ayhan Kubar, Sehime Gülsüm Temel, Serdar Beken, Gizem Onder, Ozden Hatirnaz, Ayse Korkmaz, Yasemin Alanay, Ugur Ozbek, Sebnem Ozemri Sag, Mahmut Cerkez Ergoren, Elif Kubar, Candan Zeynep Sonmezalp, Ozlem Doğan   +12 more
doaj   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, Michelle Yating Eio, Hiromi W. L. Koh, Zi Jian Khong, Gunaseelan Narayanan, Aloysius Kai Soon Teo, Richard Giadone, Radoslaw M. Sobota, Shi Yan Ng, Adrian Kee Keong Teo, Wei Yi Ong, Lee L. Rubin, Basil T. Darras, Crystal J. J. Yeo   +15 more
wiley   +1 more source

Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

BMC Neurology
Background Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation.
Mei Yao, Liya Jiang, Yicheng Yu, Yiqin Cui, Yuwei Chen, Dongming Zhou, Feng Gao, Shanshan Mao   +7 more
doaj   +1 more source

Antisense-based therapy for the treatment of spinal muscular atrophy [PDF]

, 2012
One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient.
Bennett, C. F., Hua, Y. M., Krainer, A. R., Rigo, F.   +3 more
core   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

BMC Medical Genetics, 2020
Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been
Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zhao   +3 more
doaj   +1 more source