Results 1 to 10 of about 9,755 (237)

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7 [PDF]

BMC Medical Genetics, 2012
Background Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81 ~ 95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene conversions ...
Yu-jin Qu, Juan Du, Er-zhen Li, Jin-li Bai, Yu-wei Jin, Hong Wang, Fang Song   +6 more
doaj   +6 more sources

Phenotypes of SMA patients retaining SMN1 with intragenic mutation [PDF]

Brain and Development, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients.
Yogik Onky Silvana Wijaya, Naoya Morisada, Yoriko Noguchi   +2 more
exaly   +5 more sources

Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers

Scientific Reports
Spinal Muscular Atrophy (SMA, MIM#253300) is an autosomal recessive neuromuscular disorder caused by defects in the Survival Motor Neuron (SMN) gene. The SMN1 gene, recognized as the primary pathogenic gene for SMA, exhibits a high degree of sequence ...
Wang Yanchao, Chen Qingqing
exaly   +3 more sources

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity [PDF]

Molecular Genetics and Metabolism Reports
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused in 95% of cases by homozygous SMN1 exon 7 deletion, with severity primarily determined by the modifier genes SMN2 and NAIP copy numbers.
Samira Nmer, Said Trhanint, Hanane Sayel, Sana Chaouki, Laila Bouguenouch, Karim Ouldim   +5 more
doaj   +2 more sources

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan [PDF]

npj Genomic Medicine
This study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal muscular atrophy (SMA) carrier screening and disease diagnosis in Taiwan.
Li-Ling Lin, Pei-Miao Chien, Tzu-Hung Hsiao, Han-Yu Ye, Shu-Hsuan Liu, Tsang-Ming Ko, Chien-Hao Huang, Pei-Lung Chen, Wen-Chun Chen, Yuh-Tsyr Chou, Chao-Szu Wu, Hung-Hsin Chen, Yin-Hsiu Chien, Jacob Shu-Jui Hsu   +13 more
doaj   +2 more sources

Pharmacological Activation of NRF2 by Omaveloxolone Upregulates NRF2-Target Proteins in SMA Type I Human Fibroblasts. [PDF]

FASEB J
SMA type I patient‐derived fibroblasts exhibit reduced basal NRF2 pathway output, reflected by decreased NQO1, xCT, and PGC1α. Pharmacological NRF2 activation with omaveloxolone (OMAV) increases cell viability and induces NRF2 target proteins in both control and SMA fibroblasts.
Vrettou S, Zetzsche S, Wirth B.
europepmc   +2 more sources

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA [PDF]

EMBO Molecular Medicine
Spinal muscular atrophy (SMA) results from SMN1 gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein.
Brett W Stringer, Yougang Zhang, Afsaneh Taghipour-Sheshdeh, Shuxiang Goh, Heike Kölbel, Michelle A Farrar, Brunhilde Wirth, Jean Giacomotto   +7 more
doaj   +2 more sources

Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency [PDF]

International Journal of Neonatal Screening
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication ...
Chloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip, Felicite Enyu Song, Raymond Chiu Mo Tam, Leanne Wing Ying Yu, Ann Anhong Ke, Eric Chun Yiu Law, Toby Chun Hei Chan, Matthew Chun Wing Yeung   +9 more
doaj   +2 more sources

Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives [PDF]

International Journal of Neonatal Screening
Three targeted therapies are currently available for spinal muscular atrophy (SMA), which have dramatically changed the natural history of this severe and potentially fatal disease.
Adelaide Ambrosio, Tiziana Fioretti, Barbara D’Andrea, Lucia Pezone, Ilaria Bitetti, Carmela Di Domenico, Sabrina Vallone, Valeria Maiolo, Angela Cioce, Mariano Giustino, Antonio Varone, Gabriella Esposito   +11 more
doaj   +2 more sources

The evolving therapeutic landscape of spinal muscular atrophy - A scoping review of investigational agents, emerging delivery technologies and strategic innovations. [PDF]

Br J Clin Pharmacol
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Belančić A, Eustaquio P, Gkrinia EMM, Stević I, Javor E, Lam YW, Janković S, Vitezić D.   +7 more
europepmc   +2 more sources