| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacke. Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy. Acta neuropathologica. vol 147. issue 1. 2024-03-12. PMID:38470509. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (smn1) gene (localized on 5q). |
2024-03-12 |
2024-03-15 |
mouse |
| Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Vier. The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies. Biochemical Society transactions. 2024-02-23. PMID:38391004. |
the underlying cause of spinal muscular atrophy (sma) is in the reduction of survival motor neuron (smn) protein levels due to mutations in the smn1 gene. |
2024-02-23 |
2024-02-25 |
Not clear |
| Yu Jiang, Zhenyu Luo, Wenrong Wang, Xingxiu Lu, ZhongMin Xia, Jieqiong Xie, Mei Lu, Lili Wu, Yulin Zhou, Qiwei Gu. Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries. European journal of medical genetics. 2024-02-07. PMID:38325644. |
heterozygous carriers of the survival of motor neuron 1 (smn1) gene deletion in parents account for approximately 95% of neonatal spinal muscular atrophy cases. |
2024-02-07 |
2024-02-10 |
Not clear |
| Murat Gülşen, Ahmet Cevdet Ceylan, Taha Bahsi, Hikmet Can Çubukçu, Onur Burak Dursu. Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort. Clinica chimica acta; international journal of clinical chemistry. 2024-02-03. PMID:38309554. |
this study assessed quantitative real-time polymerase chain reaction (qrt-pcr) compared to multiplex ligation-dependent probe amplification (mlpa) for detecting spinal muscular atrophy (sma) through smn1 gene copy number analysis in a turkish cohort. |
2024-02-03 |
2024-02-06 |
Not clear |
| Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar, Gabriel Chow, Imelda Hughes, Marjorie Illingworth, Anirban Majumdar, Chiara Marini-Bettolo, Deepak Parasuraman, Stefan Spinty, Tracey Willis, Mariacristina Scoto, Giovanni Baranell. Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain. Journal of neuromuscular diseases. 2024-01-08. PMID:38189761. |
spinal muscular atrophy (sma) is a progressive neuromuscular disease caused by mutations in survival motor neuron 1 (smn1) gene, leading to reduction in survival motor neuron protein (smn), key for motor neuron survival and function in the brainstem and spinal cord. |
2024-01-08 |
2024-01-10 |
Not clear |
| Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavitha Kotha, Grace Paul, Richard Shell, Chang-Yong Tsao, Jerry R Mendell, Anne M Connoll. Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio. Neuromuscular disorders : NMD. vol 34. 2023-12-24. PMID:38142474. |
5q spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disease caused by absence of the smn1 gene with three fda approved genetic therapies which significantly improve outcomes. |
2023-12-24 |
2023-12-27 |
Not clear |
| Frédérique Audic, Sonia M Dubois, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Marie-Christine Nougues, Jean-Baptiste Davion, Christian Richelme, Carole Vuillerot, Laure Legoff, Pascal Sabouraud, Claude Cances, Vincent Laugel, Juliette Ropars, Caroline Espil-Taris, Valérie Trommsdorff, Anne Pervillé, Marta Gomez Garcia-de-la-Banda, Hervé Testard, Mondher Chouchane, Ulrike Walther-Louvier, Cyril Schweizer, Cécile Halbert, Myriam Badri, Susana Quijano-Roy, Brigitte Chabrol, Isabelle Desguerr. Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 2023-12-22. PMID:38135619. |
spinal muscular atrophy (sma) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (smn1), causing degeneration of the anterior horn cells of the spinal cord and resulting in muscle atrophy. |
2023-12-22 |
2023-12-25 |
Not clear |
| 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 |