| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug-Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa Chand, Sitra Tauscher-Wisniewski, Nuno Mendonca, Arseniy Lavro. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. The Lancet. Neurology. vol 20. issue 10. 2021-09-28. PMID:34536405. |
spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (smn1) gene, resulting in motor neuron dysfunction. |
2021-09-28 |
2023-08-13 |
Not clear |
| Sophie F Hill, Miriam H Meisle. Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders. Developmental neuroscience. vol 43. issue 3-4. 2021-09-16. PMID:34412058. |
the aso nusinersen is a general treatment for mutations of smn1 in spinal muscular atrophy that corrects the splicing defect in the smn2 gene. |
2021-09-16 |
2023-08-13 |
mouse |
| C Rouzier, A Chaussenot, V Paquis-Flucklinge. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 27. issue 7S. 2021-09-13. PMID:33357600. |
spinal muscular atrophy (sma) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the smn1 gene. |
2021-09-13 |
2023-08-13 |
Not clear |
| Kristian T Schafernak, Jeffrey R Jacobsen, Dulce Hernandez, Robin D Kaye, Sylvia E Pere. Cytochemical Characterization of Cerebrospinal Fluid Macrophage Inclusions in Pediatric Patients Receiving Intrathecal Nusinersen (SPINRAZA®) for Spinal Muscular Atrophy. Acta cytologica. 2021-09-13. PMID:34515035. |
spinal muscular atrophy (sma) is a debilitating neuromuscular disorder caused by biallelic deletion of the smn1 gene. |
2021-09-13 |
2023-08-13 |
Not clear |
| Alba Sansa, Sandra de la Fuente, Joan X Comella, Ana Garcera, Rosa M Sole. Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons. Neurobiology of disease. vol 155. 2021-09-02. PMID:33845129. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder caused by loss of the survival motor neuron 1 gene (smn1). |
2021-09-02 |
2023-08-13 |
mouse |
| Shan-Fu Ou, Che-Sheng Ho, Wang-Tso Lee, Kuang-Lin Lin, Cynthia C Jones, Yuh-Jyh Jon. Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study. Brain & development. vol 43. issue 1. 2021-08-31. PMID:32878721. |
spinal muscular atrophy (sma) is caused by a defect in the survival motor neuron 1 (smn1) gene. |
2021-08-31 |
2023-08-13 |
Not clear |
| Anton J Blatnik, Vicki L McGovern, Thanh T Le, Chitra C Iyer, Brian K Kaspar, Arthur H M Burghe. Conditional deletion of SMN in cell culture identifies functional SMN alleles. Human molecular genetics. vol 29. issue 21. 2021-08-31. PMID:33075805. |
spinal muscular atrophy (sma) is caused by mutation or deletion of survival motor neuron 1 (smn1) and retention of smn2 leading to smn protein deficiency. |
2021-08-31 |
2023-08-13 |
mouse |
| Vicki L McGovern, Kaitlyn M Kray, W David Arnold, Sandra I Duque, Chitra C Iyer, Aurélie Massoni-Laporte, Eileen Workman, Aalapi Patel, Daniel J Battle, Arthur H M Burghe. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice. Human molecular genetics. vol 29. issue 21. 2021-08-31. PMID:33084884. |
spinal muscular atrophy is caused by reduced levels of smn resulting from the loss of smn1 and reliance on smn2 for the production of smn. |
2021-08-31 |
2023-08-13 |
mouse |
| Anna A L Motyl, Kiterie M E Faller, Ewout J N Groen, Rachel A Kline, Samantha L Eaton, Leire M Ledahawsky, Helena Chaytow, Douglas J Lamont, Thomas M Wishart, Yu-Ting Huang, Thomas H Gillingwate. Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy. Human molecular genetics. vol 29. issue 16. 2021-08-27. PMID:32644120. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1). |
2021-08-27 |
2023-08-13 |
mouse |
| JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng, Jia Wang, YuWei Jin, Hong Wan. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy. Journal of molecular neuroscience : MN. vol 71. issue 1. 2021-08-27. PMID:32812185. |
dual mechanism of a new smn1 variant (c.835g>c, p.gly279arg) by interrupting exon 7 skipping and yg oligomerization in causation of spinal muscular atrophy. |
2021-08-27 |
2023-08-13 |
Not clear |
| JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng, Jia Wang, YuWei Jin, Hong Wan. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy. Journal of molecular neuroscience : MN. vol 71. issue 1. 2021-08-27. PMID:32812185. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by deletion or subtle variant of survival motor neuron 1 (smn1) gene. |
2021-08-27 |
2023-08-13 |
Not clear |
| Eugenio Mercuri, Maria Carmela Pera, Mariacristina Scoto, Richard Finkel, Francesco Munton. Spinal muscular atrophy - insights and challenges in the treatment era. Nature reviews. Neurology. vol 16. issue 12. 2021-08-27. PMID:33057172. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease caused by deletion or mutation of smn1. |
2021-08-27 |
2023-08-13 |
Not clear |
| T-L Vu-Han, M J Reisener, M Putzier, M Pumberge. [Scoliosis in spinal muscular atrophy]. Der Orthopade. vol 50. issue 8. 2021-08-13. PMID:34232342. |
5q-spinal muscular atrophy (5q-sma) is an autosomal recessive neuromuscular disorder caused by a biallelic mutation of the survival of motor neuron 1 smn1 gene. |
2021-08-13 |
2023-08-13 |
Not clear |
| Gayatri Gandhi, Syahril Abdullah, Agus Iwan Foead, Wendy Wai Yeng Ye. The potential role of miRNA therapies in spinal muscle atrophy. Journal of the neurological sciences. vol 427. 2021-08-11. PMID:34015517. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by low levels of full-length survival motor neuron (smn) protein due to the loss of the survival motor neuron 1 (smn1) gene and inefficient splicing of the survival motor neuron 2 (smn2) gene, which mostly affects alpha motor neurons of the lower spinal cord. |
2021-08-11 |
2023-08-13 |
Not clear |
| Xin Zhao, Zhihua Feng, Nicole Risher, Anna Mollin, Josephine Sheedy, Karen K Y Ling, Jana Narasimhan, Amal Dakka, John D Baird, Hasane Ratni, Catherine Lutz, Karen Chen, Nikolai Naryshkin, Chien-Ping Ko, Ellen Welch, Friedrich Metzger, Marla Weetal. SMN protein is required throughout life to prevent spinal muscular atrophy disease progression. Human molecular genetics. 2021-08-09. PMID:34368854. |
spinal muscular atrophy (sma) is caused by the loss of the survival motor neuron 1 (smn1) gene function. |
2021-08-09 |
2023-08-13 |
mouse |
| Haiyan Zhou, Jinhong Meng, Alberto Malerba, Francesco Catapano, Palittiya Sintusek, Susan Jarmin, Lucy Feng, Ngoc Lu-Nguyen, Lianwen Sun, Virginie Mariot, Julie Dumonceaux, Jennifer E Morgan, Paul Gissen, George Dickson, Francesco Munton. Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of cachexia, sarcopenia and muscle. vol 11. issue 3. 2021-08-02. PMID:32031328. |
spinal muscular atrophy (sma) is caused by genetic defects in the survival motor neuron 1 (smn1) gene that lead to smn deficiency. |
2021-08-02 |
2023-08-13 |
mouse |
| V A Sansone, M C Walter, S Attarian, S Delstanche, E Mercuri, H Lochmüller, C Neuwirth, J F Vazquez-Costa, C Kleinschnitz, T Hagenacke. Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report. Journal of neuromuscular diseases. vol 7. issue 4. 2021-07-22. PMID:32538864. |
spinal muscular atrophy (sma) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000-10,000 live births, caused by loss of the survival motor neuron 1 gene (smn1). |
2021-07-22 |
2023-08-13 |
Not clear |
| Aurore Besse, Stephanie Astord, Thibaut Marais, Marianne Roda, Benoit Giroux, François-Xavier Lejeune, Frederic Relaix, Piera Smeriglio, Martine Barkats, Maria Grazia Bifer. AAV9-Mediated Expression of SMN Restricted to Neurons Does Not Rescue the Spinal Muscular Atrophy Phenotype in Mice. Molecular therapy : the journal of the American Society of Gene Therapy. vol 28. issue 8. 2021-07-12. PMID:32470325. |
spinal muscular atrophy (sma) is a neuromuscular disease mainly caused by mutations or deletions in the survival of motor neuron 1 (smn1) gene and characterized by the degeneration of motor neurons and progressive muscle weakness. |
2021-07-12 |
2023-08-13 |
mouse |
| Bo Liu, Yulan Lu, Bingbing Wu, Lin Yang, Renchao Liu, Huijun Wang, Xinran Dong, Gang Li, Qian Qin, Wenhao Zho. Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening. The Journal of molecular diagnostics : JMD. vol 22. issue 5. 2021-07-05. PMID:32092542. |
spinal muscular atrophy (sma) is a leading genetic cause of infant death, influenced by the copy number of two highly homologous genes: smn1 and smn2. |
2021-07-05 |
2023-08-13 |
Not clear |
| John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M Abbott, Henny H Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M Van Deerlin, Huiping Zhu, Gary J Latha. Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants. The Journal of molecular diagnostics : JMD. vol 23. issue 6. 2021-06-30. PMID:33798739. |
multisite evaluation and validation of a sensitive diagnostic and screening system for spinal muscular atrophy that reports smn1 and smn2 copy number, along with disease modifier and gene duplication variants. |
2021-06-30 |
2023-08-13 |
human |