| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jordyn Karliner, Yuhong Liu, Diane E Merr. Mutant androgen receptor induces neurite loss and senescence independently of ARE binding in a neuronal model of SBMA. Proceedings of the National Academy of Sciences of the United States of America. vol 121. issue 29. 2024-07-08. PMID:38976730. |
spinal and bulbar muscular atrophy (sbma) is a slowly progressing neuromuscular disease caused by a polyglutamine (polyq)-encoding cag trinucleotide repeat expansion in the androgen receptor (ar) gene, leading to ar aggregation, lower motor neuron death, and muscle atrophy. |
2024-07-08 |
2024-07-12 |
Not clear |
| 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 (sma) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. description of two novel smn1 mutations (patient1: c.683t > a, p.leu228ter; patient2: c.347 t > c, p.ile116 thr). we reported two patients with smn1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. two sma patients showed progressive proximal lower limb weakness and milder clinical symptom. |
2024-07-07 |
2024-07-11 |
Not clear |
| Xiaohua Peng, Yue Chi, Jinling Wang, Shuangpeng Li, Yang Liu, Chengcheng Tang, Xiaoqing Zhou, Xuan Lu, Yue Gao, Liangxue Lai, Min Chen, Qingjian Zo. Improvement of TaC9-ABE mediated correction of human SMN2 gene. Biotechnology and bioengineering. 2024-06-26. PMID:38923503. |
spinal muscular atrophy (sma) is a devastating neuromuscular disease caused by mutations in the survival motor neuron 1 (smn1) gene. |
2024-06-26 |
2024-06-29 |
human |
| Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Muelle. Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers. Neurology and therapy. 2024-05-15. PMID:38750391. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (smn1) gene resulting in reduced levels of smn protein. |
2024-05-15 |
2024-05-27 |
Not clear |
| Elmor D Pineda, Tu My To, Travis L Dickendesher, Sheila Shapouri, Susan T Iannaccon. Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis. Advances in therapy. 2024-05-06. PMID:38709394. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions and/or mutations in the survival of motor neuron 1 (smn1) gene. |
2024-05-06 |
2024-05-08 |
Not clear |
| Charlotte Colot, Sarah Benmechri, Elke Everaert, Sarah Muys, Linde Van Himme, Valentine Tahon, Maurine Salmon, Dorine Van Dyck, Elke De Vos, Nicolas Deconinc. Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach. Journal of neuromuscular diseases. 2024-05-03. PMID:38701158. |
spinal muscular atrophy (sma), a genetic neuromuscular disease caused by lack of survival of motor neuron (smn) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. |
2024-05-03 |
2024-05-06 |
Not clear |
| Eric L Garcia, Rebecca E Steiner, Amanda C Raimer, Laura E Herring, A Gregory Matera, Ashlyn M Sprin. Dysregulation of innate immune signaling in animal models of spinal muscular atrophy. BMC biology. vol 22. issue 1. 2024-04-26. PMID:38664795. |
spinal muscular atrophy (sma) is a devastating neuromuscular disease caused by hypomorphic loss of function in the survival motor neuron (smn) protein. |
2024-04-26 |
2024-04-28 |
drosophila_melanogaster |
| Mei Yao, Liya Jiang, Yicheng Yu, Yiqin Cui, Yuwei Chen, Dongming Zhou, Feng Gao, Shanshan Ma. 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. vol 24. issue 1. 2024-03-12. PMID:38468256. |
spinal muscular atrophy (sma) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (smn1) gene deletion or mutation. |
2024-03-12 |
2024-03-14 |
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 |
| Eric L Garcia, Rebecca E Steiner, Amanda C Raimer, Laura E Herring, A Gregory Matera, Ashlyn M Sprin. Dysregulation of innate immune signaling in animal models of Spinal Muscular Atrophy. bioRxiv : the preprint server for biology. 2024-01-03. PMID:38168196. |
spinal muscular atrophy (sma) is a devastating neuromuscular disease caused by hypomorphic loss of function in the survival motor neuron (smn) protein. |
2024-01-03 |
2024-01-06 |
Not clear |
| Giulia Ricci, Francesca Torri, Alessandra Govoni, Roberto Chiappini, Laura Manca, Gabriele Vadi, Stefano Roccella, Francesca Magri, Megi Meneri, Federica Fassini, Veria Vacchiano, Silvia Tomassini, Noemi Gironella, Michela Coccia, Giacomo Comi, Rocco Liguori, Gabriele Sicilian. Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 42. issue 2-3. 2023-12-13. PMID:38090548. |
spinal muscular atrophy (sma) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great variability in phenotypic expression. |
2023-12-13 |
2023-12-17 |
Not clear |
| Shaqraa Musawi, Lise-Marie Donnio, Zehui Zhao, Charlène Magnani, Phoebe Rassinoux, Olivier Binda, Jianbo Huang, Arnaud Jacquier, Laurent Coudert, Patrick Lomonte, Cécile Martinat, Laurent Schaeffer, Denis Mottet, Jocelyn Côté, Pierre-Olivier Mari, Giuseppina Giglia-Mar. Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments. Nature communications. vol 14. issue 1. 2023-11-15. PMID:37968267. |
spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by mutations in the multifunctional protein survival of motor neuron, or smn. |
2023-11-15 |
2023-11-20 |
Not clear |
| George Khludenev, Elise Le Cam, Bujji B Ainapurap. Non-diabetic Euglycemic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II. Cureus. vol 15. issue 9. 2023-10-24. PMID:37868546. |
spinal muscular atrophy (sma) is a rare neuromuscular disease that develops as a result of the degeneration of the anterior horn cells in the spinal cord and lower brainstem motor nuclei, resulting in progressive muscle weakness and atrophy. |
2023-10-24 |
2023-11-08 |
Not clear |
| Maximilian Vidovic, Maren Freigang, Elisa Aust, Katharina Linse, Daniel Petzold, René Günthe. Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen. BMC neurology. vol 23. issue 1. 2023-06-06. PMID:37280513. |
spinal muscular atrophy (sma) is a genetic neuromuscular disease caused by mutations of the smn1 gene. |
2023-06-06 |
2023-08-14 |
Not clear |
| Aya Oda, Kana Oue, Mitsuhiro Yoshid. Spinal Muscular Atrophy Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery. The Journal of craniofacial surgery. 2023-05-30. PMID:37253240. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. |
2023-05-30 |
2023-08-14 |
Not clear |
| Wooi Fang Lim, Carlo Rinald. RNA Transcript Diversity in Neuromuscular Research. Journal of neuromuscular diseases. 2023-05-14. PMID:37182892. |
it is therefore not surprising that splicing mis-regulation is causally associated with a myriad of neuromuscular diseases, including but not limited to amyotrophic lateral sclerosis (als), spinal muscular atrophy (sma), duchenne muscular dystrophy (dmd), and myotonic dystrophy type 1 and 2 (dm1, dm2). |
2023-05-14 |
2023-08-14 |
human |
| Yumi Cleary, Heidemarie Kletzl, Paul Grimsey, Katja Heinig, Kayode Ogungbenro, Hanna Elisabeth Silber Baumann, Nicolas Frey, Leon Aarons, Aleksandra Galetin, Michael Gert. Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children. Clinical pharmacokinetics. 2023-05-06. PMID:37148485. |
spinal muscular atrophy (sma) is a progressive neuromuscular disease caused by insufficient levels of survival motor neuron (smn) protein. |
2023-05-06 |
2023-08-14 |
Not clear |
| G Sabuncu Gürses, S S Erdem, M T Saça. A QSAR study to predict the survival motor neuron promoter activity of candidate diaminoquinazoline derivatives for the potential treatment of spinal muscular atrophy. SAR and QSAR in environmental research. vol 34. issue 3. 2023-05-01. PMID:37125536. |
spinal muscular atrophy is a genetic neuromuscular disease that leads to muscle weakness and atrophy and it is characterized by the loss of α-motor neurons in the spinal cord's anterior horn cells. |
2023-05-01 |
2023-08-14 |
Not clear |
| Jinli Bai, Yujin Qu, Shijia OuYang, Hui Jiao, Yang Wang, Jingjing Li, Wenchen Huang, Yunlong Zhao, Xiaoyin Peng, Depeng Wang, Yuwei Jin, Hong Wang, Fang Son. Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy. Neuromuscular disorders : NMD. vol 33. issue 5. 2023-04-06. PMID:37023488. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by biallelic variants of the survival motor neuron 1 (smn1) gene. |
2023-04-06 |
2023-08-14 |
Not clear |
| Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore, Giampiero Ferraguti, Andrea Colizza, Marco de Vincentiis, Marco Ceccanti, Maurizio Inghilleri, Nicoletta Corbi, Claudio Passananti, Maria Grazia Di Cert. SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy. International journal of molecular sciences. vol 24. issue 3. 2023-02-11. PMID:36769246. |
the deficiency of survival motor neuron protein (smn) causes spinal muscular atrophy (sma), a rare neuromuscular disease that affects different organs. |
2023-02-11 |
2023-08-14 |
human |