| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Christiano R R Alves, Leillani L Ha, Rebecca Yaworski, Emma R Sutton, Cicera R Lazzarotto, Kathleen A Christie, Aoife Reilly, Ariane Beauvais, Roman M Doll, Demitri de la Cruz, Casey A Maguire, Kathryn J Swoboda, Shengdar Q Tsai, Rashmi Kothary, Benjamin P Kleinstive. Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy. Nature biomedical engineering. 2023-12-06. PMID:38057426. |
spinal muscular atrophy (sma) is caused by mutations in smn1. |
2023-12-06 |
2023-12-10 |
mouse |
| Yanan Sun, Songyan Ma, Juan Xiao, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Shufang Li, Ling Feng, Suhua Che. Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China. Journal of assisted reproduction and genetics. 2023-11-22. PMID:37991656. |
preconception or prenatal acceptance of smn1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in wuhan area of china. |
2023-11-22 |
2023-11-29 |
Not clear |
| Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I Al-Dewi. Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study. Molecular genetics & genomic medicine. 2023-11-15. PMID:37964750. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutations and deletions in smn1 at exon 7. |
2023-11-15 |
2023-11-20 |
Not clear |
| Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D'Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D'Ursi, Alessandro Usiell. SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy. Communications biology. vol 6. issue 1. 2023-11-13. PMID:37957344. |
beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (smn1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (sma). |
2023-11-13 |
2023-11-20 |
mouse |
| Maryam Oskoui, Laurent Servai. Spinal Muscular Atrophy. Continuum (Minneapolis, Minn.). vol 29. issue 5. 2023-10-18. PMID:37851043. |
this article provides a comprehensive overview of the diagnostic assessment and treatment of individuals with spinal muscular atrophy (sma) due to homozygous deletions of smn1. |
2023-10-18 |
2023-11-08 |
Not clear |
| Alex Fa. Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease. Pediatric clinics of North America. vol 70. issue 5. 2023-09-13. PMID:37704354. |
spinal muscular atrophy (sma) is a progressive disease of the lower motor neurons associated with recessive loss of the smn1 gene, and which leads to worsening weakness and disability, and is fatal in its most severe forms. |
2023-09-13 |
2023-10-07 |
Not clear |
| M Garofalo, S Bonanno, S Marcuzzo, C Pandini, E Scarian, F Dragoni, R Di Gerlando, M Bordoni, S Parravicini, C Gellera, R Masson, C Dosi, R Zanin, O Pansarasa, C Cereda, A Berardinelli, S Gagliard. Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen. Biology direct. vol 18. issue 1. 2023-09-13. PMID:37705059. |
spinal muscular atrophy (sma) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (smn1) gene, and consequent loss of function of smn protein, which results in progressive loss of lower motor neurons, and muscular wasting. |
2023-09-13 |
2023-10-07 |
Not clear |
| Kazuhiko Hashimoto, Mari Yokokawa, Daisuke Yamashita, Kotaro Yuge, Yoshikazu Otsub. Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report. Cureus. vol 15. issue 7. 2023-08-25. PMID:37621829. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by the deletion or mutation of the survival motor neuron 1 (smn1) gene. |
2023-08-25 |
2023-09-07 |
Not clear |
| David S Younger, Jerry R Mendel. Childhood spinal muscular atrophy. Handbook of clinical neurology. vol 196. 2023-08-24. PMID:37620083. |
spinal muscular atrophy (sma) is caused by biallelic mutations in the smn1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem. |
2023-08-24 |
2023-09-07 |
Not clear |
| Xiaobo Yang, Bei Zhang, Siqi Wang, Ye Lu, Kaixian Chen, Cheng Luo, Aihua Sun, Hao Zhan. OTTM: an automated classification tool for translational drug discovery from omics data. Briefings in bioinformatics. 2023-08-18. PMID:37594310. |
two drugs-tafenoquine succinate (an fda-approved antimalarial drug targeting cyc1) and branaplam (a phase 3 clinical drug targeting smn1 for the treatment of spinal muscular atrophy)-showed potent inhibitory activity against hep-g2 cell viability, suggesting that cyc1 and smn1 may be potential therapeutic target proteins for hepatocellular carcinoma. |
2023-08-18 |
2023-09-07 |
Not clear |
| Olivia McKee-Muir, Sarah Dyack, Monique Taillon, Jo-Ann Brock, Jordan Sherik. Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada. American journal of medical genetics. Part A. 2023-08-14. PMID:37578329. |
epidemiology of spinal muscular atrophy caused by smn1 deletions in maritime canada. |
2023-08-14 |
2023-08-16 |
Not clear |
| Olivia McKee-Muir, Sarah Dyack, Monique Taillon, Jo-Ann Brock, Jordan Sherik. Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada. American journal of medical genetics. Part A. 2023-08-14. PMID:37578329. |
spinal muscular atrophy (sma), caused primarily by deletions in smn1, leads to progressive loss of lower motor neurons. |
2023-08-14 |
2023-08-16 |
Not clear |
| Elisabetta Verrillo, Martino Pavone, Oliviero Bruni, Raffaele Ferri, Maria Beatrice Chiarini Testa, Claudio Cherchi, Adele D'Amico, Renato Cutrer. Sleep architecture and Nusinersen therapy in children with Spinal Muscular Atrophy type 1. Sleep medicine. vol 110. 2023-08-12. PMID:37572575. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder, the phenotype of the disease is caused by the mutation of the smn1 (survival motor neuron 1) gene which encodes for the smn protein. |
2023-08-12 |
2023-08-16 |
Not clear |
| Irene Faravelli, Delia Gagliardi, Elena Abati, Megi Meneri, Jessica Ongaro, Francesca Magri, Valeria Parente, Lucia Petrozzi, Giulia Ricci, Fiorenza Farè, Giulia Garrone, Manuela Fontana, Donatella Caruso, Gabriele Siciliano, Giacomo Pietro Comi, Alessandra Govoni, Stefania Corti, Linda Ottobon. Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study. Cellular and molecular life sciences : CMLS. vol 80. issue 8. 2023-08-05. PMID:37543540. |
spinal muscular atrophy (sma) is a neurodegenerative disorder caused by mutations in the smn1 gene resulting in reduced levels of the smn protein. |
2023-08-05 |
2023-08-14 |
Not clear |
| Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczy. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet journal of rare diseases. vol 18. issue 1. 2023-08-04. PMID:37542300. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a biallelic mutation in the smn1 gene, resulting in progressive muscle weakness and atrophy. |
2023-08-04 |
2023-08-14 |
Not clear |
| Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping H. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry. 2023-07-21. PMID:37479010. |
spinal muscular atrophy (sma) is an autosomal recessive inherited neuromuscular condition caused by biallelic mutations in the survival of motor neuron 1 (smn1) gene. |
2023-07-21 |
2023-08-14 |
Not clear |
| Jacqueline Glascock, Basil T Darras, Thomas O Crawford, Charlotte J Sumner, Stephen J Kolb, Christine DiDonato, Bakri Elsheikh, Kelly Howell, Wildon Farwell, Marta Valente, Marco Petrillo, Jessica Tingey, Jill Jareck. Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. Journal of neuromuscular diseases. 2023-07-17. PMID:37458045. |
spinal muscular atrophy (sma) is caused by bi-allelic, recessive mutations of the survival motor neuron 1 (smn1) gene and reduced expression levels of the survival motor neuron (smn) protein. |
2023-07-17 |
2023-08-14 |
Not clear |
| Nidheesh Chencheri, Gail Alexander, Ahmed Nugud, Eurose Majadas, Haneen Salim, Katy Prudhomme, Noleen DeJager, Vaishnavi Shetty Janardhanan, Haitham Elbashi. Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children. Muscle & nerve. 2023-07-01. PMID:37392188. |
new therapeutic strategies to increase survival motor neuron protein levels in spinal muscular atrophy (sma) have focused on replacing the smn1 gene. |
2023-07-01 |
2023-08-14 |
Not clear |
| Zorica Nakevska, Toshifumi Yokot. Challenges and future perspective of antisense therapy for spinal muscular atrophy: A review. European journal of cell biology. vol 102. issue 2. 2023-06-09. PMID:37295266. |
spinal muscular atrophy (sma), the most common genetic cause of infantile death, is caused by a mutation in the survival of motor neuron 1 gene (smn1), leading to the death of motor neurons and progressive muscle weakness. |
2023-06-09 |
2023-08-14 |
Not clear |
| H S Lapp, M Freigang, T Hagenacker, M Weiler, C D Wurster, René Günthe. Biomarkers in 5q-associated spinal muscular atrophy-a narrative review. Journal of neurology. 2023-06-08. PMID:37289324. |
5q-associated spinal muscular atrophy (sma) is a rare genetic disease caused by mutations in the smn1 gene, resulting in a loss of functional smn protein and consecutive degeneration of motor neurons in the ventral horn. |
2023-06-08 |
2023-08-14 |
Not clear |