Results 21 to 30 of about 9,755 (237)

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies [PDF]

Brain, 2014
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13.
Peeters, Kristien, Chamova, Teodora, Jordanova, Albena   +2 more
openaire   +4 more sources

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study [PDF]

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q.
Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito   +6 more
doaj   +2 more sources

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   +2 more sources

Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA [PDF]

Heliyon
Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018.
Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang, Shijia OuYang, Xiaoyin Peng, Yuwei Jin, Hong Wang, Fang Song   +9 more
doaj   +2 more sources

Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy

Frontiers in Genetics, 2019
Preimplantation genetic testing for the monogenic disorder (PGT-M) spinal muscular atrophy (SMA) is significantly improved by supplementation of SMN1 deletion detection with marker-based linkage analysis. To expand the availability of informative markers
Mingjue Zhao, Mulias Lian, Felicia S.H. Cheah, Arnold S.C. Tan, Arnold S.C. Tan, Anupriya Agarwal, Samuel S. Chong, Samuel S. Chong, Samuel S. Chong   +8 more
doaj   +2 more sources

SMN deficiency inhibits endochondral ossification via promoting TRAF6-induced ubiquitination degradation of YBX1 in spinal muscular atrophy [PDF]

Bone Research
Survival of motor neuron (SMN) protein encoded by SMN1 gene, is the essential and ubiquitously expressed protein in all tissues. Prior studies demonstrated that SMN deficiency impaired bone development, but the underlying mechanism of abnormal ...
Zijie Zhou, Xinbin Fan, Taiyang Xiang, Yinxuan Suo, Xiaoyan Shi, Yaoyao Li, Yimin Hua, Lei Sheng, Xiaozhong Zhou   +8 more
doaj   +2 more sources

SMN1 dosage analysis in spinal muscular atrophy from India

BMC Medical Genetics, 2005
Background Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India ...
Leonard Debra GB, Rennert Hanna, Kesari Akanchha, Mittal Balraj   +3 more
doaj   +2 more sources

SMN1 Gene [PDF]

, 2020
National Cancer Institute
openaire   +2 more sources

Rare Variants of the SMN1 Gene Detected during Neonatal Screening

Genes
During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the ...
Maria Akhkiamova, Aleksander Polyakov, Andrey Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga Shchagina   +11 more
openaire   +3 more sources

Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]

Iranian Journal of Neonatology, 2022
Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe, Mohammed Radouani, Ilham Elouardighi, Asmaa Dibi, Amina Barkat   +4 more
doaj   +1 more source