| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' H\\xc3\\xbcseyin Bahad\\xc4\\xb1r \\xc5\\x9eenol, Gizem Y\\xc4\\xb1ld\\xc4\\xb1z, Ay\\xc5\\x9fe \\xc4\\xb0pek Polat, Adem Ayd\\xc4\\xb1n, Ay\\xc5\\x9fe Semra H\\xc4\\xb1z, Alper Soylu, Ulu\\xc3\\xa7 Yi\\xc5\\x9. Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy. Brain and behavior. vol 15. issue 1. 2025-01-20. PMID:39829133.' |
spinal muscular atrophy (sma) is a motor neuron disease caused by mutations in the smn1 gene. |
2025-01-20 |
2025-01-23 |
Not clear |
| Nithya N Nair, Rachel A Kline, Imogen Boyd, Meenakshi Anikumar, Adrian Thomson, Douglas J Lamont, Gillian A Gray, Thomas M Wishart, Lyndsay M Murra. Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA. Human molecular genetics. 2025-01-15. PMID:39810393. |
spinal muscular atrophy is an autosomal dominant disease caused by mutations and deletions within the smn1 gene, with predominantly childhood onset. |
2025-01-15 |
2025-01-17 |
mouse |
| Tianyu Shi, Zijie Zhou, Taiyang Xiang, Yinxuan Suo, Xiaoyan Shi, Yaoyao Li, Peng Zhang, Jun Dai, Lei Shen. Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy. Journal of neurology. vol 272. issue 1. 2024-12-12. PMID:39666039. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by deletions or mutations of survival of motor neuron 1 (smn1) gene. |
2024-12-12 |
2024-12-14 |
Not clear |
| Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoumeh Akbari Kelishomi, Fariba Afroozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mohammadamin Omrani, Haleh Habibi, Maryam Taghdiri, Isa Abdi Rad, Shahriar Nafissi, Aria Jankhah, Hilda Yazdan, Parvaneh Daneshmand, Seyed Hosseinali Saberi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabad. Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population. Scientific reports. vol 14. issue 1. 2024-12-02. PMID:39622884. |
copy number variations in the smn1 gene on chromosome 5 are the primary cause of spinal muscular atrophy (sma) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. |
2024-12-02 |
2024-12-06 |
Not clear |
| Yan Dong, Shuyue Zhang, Hong Wang, Xiaodong Jia, Changshun Yu, Weiran Li, Ximeng Ma, Xiaoli Yu, Dong Li, Jianbo Shu, Chunquan Ca. Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions. American journal of medical genetics. Part A. 2024-11-05. PMID:39497486. |
delayed diagnosis of spinal muscular atrophy in two chinese families due to novel smn1 deletions. |
2024-11-05 |
2024-11-07 |
Not clear |
| Yan Dong, Shuyue Zhang, Hong Wang, Xiaodong Jia, Changshun Yu, Weiran Li, Ximeng Ma, Xiaoli Yu, Dong Li, Jianbo Shu, Chunquan Ca. Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions. American journal of medical genetics. Part A. 2024-11-05. PMID:39497486. |
autosomal recessive spinal muscular atrophy (sma) is a leading cause of infant and child mortality, with homozygous deletion in exon 7 of the smn1 gene being a major genetic cause. |
2024-11-05 |
2024-11-07 |
Not clear |
| Hua Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Rong Lu. Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature. Frontiers in pediatrics. vol 12. 2024-10-14. PMID:39398417. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (smn1) gene on chromosome 5, leading to the degeneration of lower motor neurons. |
2024-10-14 |
2024-10-16 |
Not clear |
| Giorgia Coratti, Francesca Bovis, Maria Carmela Pera, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jacqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Jesica Exposito Escudero, Liesbeth De Waele, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Andres Nascimiento Osorio, Claudio Bruno, Natalie Goemans, Valeria A Sansone, John Day, Giovanni Baranello, Francesco Muntoni, Richard Finkel, Eugenio Mercur. Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. European journal of neurology. 2024-10-11. PMID:39392101. |
spinal muscular atrophy (sma) is a genetic disorder caused by smn1 gene mutations. |
2024-10-11 |
2024-10-13 |
Not clear |
| Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya, Koray Tekin, Fatma Sila. Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey. Journal of community genetics. 2024-10-11. PMID:39392569. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by variants in the smn1 gene, leading to progressive muscle weakness. |
2024-10-11 |
2024-10-13 |
Not clear |
| Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Xiaoyin Peng, Xiushan Ge, Hui Jiao, Yujin Qu, Fang Son. [Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 41. issue 10. 2024-09-30. PMID:39344612. |
to explore the characteristics of smn1 gene variants and carry out functional verification for two children with spinal muscular atrophy (sma). |
2024-09-30 |
2024-10-02 |
Not clear |
| Maria Liguori, Annalisa Bianco, Alessandro Introna, Arianna Consiglio, Giammarco Milella, Elena Abbatangelo, Eustachio D'Errico, Flavio Licciulli, Giorgio Grillo, Isabella Laura Simon. An early Transcriptomic Investigation in Adult Patients with Spinal Muscular Atrophy Under Treatment with Nusinersen. Journal of molecular neuroscience : MN. vol 74. issue 4. 2024-09-26. PMID:39325116. |
spinal muscular atrophy (sma) is a rare degenerative disorder with loss of motor neurons caused by mutations in the smn1 gene. |
2024-09-26 |
2024-09-28 |
human |
| Fiorella Grandi, Stéphanie Astord, Sonia Pezet, Elèna Gidaja, Sabrina Mazzucchi, Maud Chapart, Stéphane Vasseur, Kamel Mamchaoui, Piera Smerigli. Characterization of SMA Type II Skeletal Muscle from Treated Patients shows Mitochondrial Deficiency and Denervation. JCI insight. 2024-09-12. PMID:39264856. |
spinal muscular atrophy (sma) is a recessive, developmental disorder caused by the genetic loss or mutation of the gene smn1 (survival of motor neuron 1). |
2024-09-12 |
2024-09-15 |
Not clear |
| Sharon J Brown, Rafael J Yáñez-Muñoz, Heidi R Fulle. Gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing SMN1 delivery to correct all neurological and systemic perturbations. Neural regeneration research. vol 20. issue 7. 2024-09-10. PMID:39254562. |
gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing smn1 delivery to correct all neurological and systemic perturbations. |
2024-09-10 |
2024-09-13 |
Not clear |
| Bogdana Cavaloiu, Iulia-Elena Simina, Crisanda Vilciu, Iuliana-Anamaria Trăilă, Maria Pui. Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time. Biomedicines. vol 12. issue 8. 2024-08-29. PMID:39200246. |
spinal muscular atrophy (sma) is a genetic disorder primarily caused by mutations in the smn1 gene, leading to motor neuron degeneration and muscle atrophy, affecting multiple organ systems. |
2024-08-29 |
2024-09-01 |
Not clear |
| Ines Tapken, Theresa Schweitzer, Martina Paganin, Tobias Schüning, Nora T Detering, Gaurav Sharma, Moritz Niesert, Afshin Saffari, Daniela Kuhn, Amy Glynn, Federica Cieri, Pamela Santonicola, Claire Cannet, Florian Gerstner, Kiterie M E Faller, Yu-Ting Huang, Rashmi Kothary, Thomas H Gillingwater, Elia Di Schiavi, Christian M Simon, Niko Hensel, Andreas Ziegler, Gabriella Viero, Andreas Pich, Peter Clau. The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy. Brain : a journal of neurology. 2024-08-25. PMID:39183150. |
spinal muscular atrophy (sma) is one such monogenic model caused by mutation or deletion of the survival of motor neuron 1 (smn1) gene. |
2024-08-25 |
2024-08-28 |
mouse |
| Walfred Ma, Mark Jp Chaisso. High-resolution global diversity copy number variation maps and association with ctyper. bioRxiv : the preprint server for biology. 2024-08-16. PMID:39149335. |
genotyping 1kgp data revealed 226 population-specific cnvs, including a conversion on smn2 to smn1, potentially impacting spinal muscular atrophy diagnosis in africans. |
2024-08-16 |
2024-08-18 |
Not clear |
| Masaki Hirano, Kentaro Sahashi, Yuki Ichikawa, Masahisa Katsuno, Atsushi Natsum. A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay. PloS one. vol 19. issue 8. 2024-08-01. PMID:39088538. |
a rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for smn1 combined with single-stranded tag hybridization assay. |
2024-08-01 |
2024-08-05 |
Not clear |
| Masaki Hirano, Kentaro Sahashi, Yuki Ichikawa, Masahisa Katsuno, Atsushi Natsum. A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay. PloS one. vol 19. issue 8. 2024-08-01. PMID:39088538. |
spinal muscular atrophy (sma) is an intractable neuromuscular disorder primarily caused by homozygous deletions in exon 7 of the smn1 gene. |
2024-08-01 |
2024-08-05 |
Not clear |
| Fumiyuki Hatanaka, Keiichiro Suzuki, Kensaku Shojima, Jingting Yu, Yuta Takahashi, Akihisa Sakamoto, Javier Prieto, Maxim Shokhirev, Estrella Nuñez Delicado, Concepcion Rodriguez Esteban, Juan Carlos Izpisua Belmont. Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing. Nature communications. vol 15. issue 1. 2024-07-25. PMID:39048567. |
defect in the smn1 gene causes spinal muscular atrophy (sma), which shows loss of motor neurons, muscle weakness and atrophy. |
2024-07-25 |
2024-07-28 |
mouse |
| Yuewei Chi, Yue Qiao, Ying M. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-07-07. PMID:38972959. |
spinal muscular atrophy caused by compound heterozygous smn1 mutations: two cases and literature review. |
2024-07-07 |
2024-07-11 |
Not clear |