| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the smn1 gene. |
2021-06-30 |
2023-08-13 |
human |
| 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. |
the emergence of multiple precision gene therapies for spinal muscular atrophy requires accurate and rapid detection of smn1 and smn2 copy numbers to enable early treatment and optimal patient outcomes. |
2021-06-30 |
2023-08-13 |
human |
| Jianyan Pan, Chunhua Zhang, Yanling Teng, Sijing Zeng, Siyi Chen, Desheng Liang, Zhuo Li, Lingqian W. Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers. Annals of laboratory medicine. vol 41. issue 1. 2021-06-29. PMID:32829585. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (smn1) gene. |
2021-06-29 |
2023-08-13 |
Not clear |
| Mayank Nilay, Amita Moirangthem, Deepti Saxena, Kausik Mandal, Shubha R Phadk. Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program. American journal of medical genetics. Part A. vol 185. issue 1. 2021-06-29. PMID:33051992. |
chromosome 5q related spinal muscular atrophy (sma) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of smn1 gene. |
2021-06-29 |
2023-08-13 |
human |
| Rachel James, Helena Chaytow, Leire M Ledahawsky, Thomas H Gillingwate. Revisiting the role of mitochondria in spinal muscular atrophy. Cellular and molecular life sciences : CMLS. vol 78. issue 10. 2021-06-22. PMID:33821292. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease of variable clinical severity that is caused by mutations in the survival motor neuron 1 (smn1) gene. |
2021-06-22 |
2023-08-13 |
Not clear |
| Sunggyun Park, Hyeonah Lee, Saeam Shin, Seung-Tae Lee, Kyung-A Lee, Jong Rak Cho. Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry. vol 510. 2021-06-21. PMID:32956702. |
spinal muscular atrophy (sma) is a progressive motor neuron disease caused by homozygote loss of exon 7 on the survival motor neuron 1 (smn1) gene. |
2021-06-21 |
2023-08-13 |
Not clear |
| Fabrício Castro de Borba, Giorgia Querin, Marcondes Cavalcante França, Pierre-François Prada. Cerebellar degeneration in adult spinal muscular atrophy patients. Journal of neurology. vol 267. issue 9. 2021-06-18. PMID:32388834. |
spinal muscular atrophy (sma) is a genetic motor neuron disease related to deletions in the smn1 gene. |
2021-06-18 |
2023-08-13 |
Not clear |
| Shiori Ando, Miruto Tanaka, Naoki Chinen, Shinsuke Nakamura, Masamitsu Shimazawa, Hideaki Har. SMN Protein Contributes to Skeletal Muscle Cell Maturation In vivo (Athens, Greece). vol 34. issue 6. 2021-06-18. PMID:33144430. |
smn protein contributes to skeletal muscle cell maturation in spinal muscular atrophy (sma), systemic deficiency of survival motor neurons (smn) caused by loss or mutation of smn1 leads to sma symptoms. |
2021-06-18 |
2023-08-13 |
Not clear |
| Yogik Onky Silvana Wijaya, Mawaddah Ar Rohmah, Emma Tabe Eko Niba, Naoya Morisada, Yoriko Noguchi, Yasufumi Hidaka, Shiro Ozasa, Takeshi Inoue, Tomoyuki Shimazu, Yuya Takahashi, Takenori Tozawa, Tomohiro Chiyonobu, Takushi Inoue, Tomoyoshi Shiroshita, Atsushi Yokoyama, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Hisahide Nishio, Masakazu Shinohar. Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development. vol 43. issue 7. 2021-06-17. PMID:33892995. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the smn1 gene. |
2021-06-17 |
2023-08-13 |
Not clear |
| María T Berciano, María S Castillo-Iglesias, J Fernando Val-Bernal, Vanesa Lafarga, José C Rodriguez-Rey, Miguel Lafarga, Olga Tapi. Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere. Cell and tissue research. vol 381. issue 3. 2021-05-28. PMID:32676861. |
spinal muscular atrophy (sma) is caused by a deletion or mutation of the survival motor neuron 1 (smn1) gene. |
2021-05-28 |
2023-08-13 |
mouse |
| Ahmet Cevdet Ceylan, Haktan Bağış Erdem, İbrahim Şahin, Meenal Agarwa. SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 41. issue 9. 2021-05-14. PMID:32249332. |
smn1 gene copy number analysis for spinal muscular atrophy (sma) in a turkish cohort by code-seq technology, an integrated solution for detection of smn1 and smn2 copy numbers and the "2+0" genotype. |
2021-05-14 |
2023-08-13 |
Not clear |