| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aziza Alrafiah, Maimonah Alghanmi, Sufana Almashhadi, Aqeel Aqeel, Adel Awaj. The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy. Folia histochemica et cytobiologica. vol 56. issue 4. 2019-03-21. PMID:30565205. |
spinal muscular atrophy (sma) is one of the most common genetic causes of death in infants due to a mutation of the motor neuron 1 (smn1) gene. |
2019-03-21 |
2023-08-13 |
Not clear |
| Garrett Smith, Stephanie K Bell, John T Sladky, Peter B Kang, Mehmet S Albayra. Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. Clinical imaging. vol 53. 2019-03-13. PMID:30340076. |
spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in smn1 that lead to progressive neurodegeneration of anterior horn cells. |
2019-03-13 |
2023-08-13 |
Not clear |
| Ewout J N Groen, Elena Perenthaler, Natalie L Courtney, Crispin Y Jordan, Hannah K Shorrock, Dinja van der Hoorn, Yu-Ting Huang, Lyndsay M Murray, Gabriella Viero, Thomas H Gillingwate. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy. Human molecular genetics. vol 27. issue 16. 2019-03-08. PMID:29790918. |
spinal muscular atrophy (sma) is a progressive motor neuron disease caused by deleterious variants in smn1 that lead to a marked decrease in survival motor neuron (smn) protein expression. |
2019-03-08 |
2023-08-13 |
mouse |
| Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Pia Gallano, Pablo Fuentes-Prior, Anna Abuli, Clara Serra-Juhe, Eduardo F Tizzan. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. European journal of human genetics : EJHG. vol 26. issue 10. 2019-03-08. PMID:29904179. |
utility of two smn1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. |
2019-03-08 |
2023-08-13 |
Not clear |
| Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Pia Gallano, Pablo Fuentes-Prior, Anna Abuli, Clara Serra-Juhe, Eduardo F Tizzan. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. European journal of human genetics : EJHG. vol 26. issue 10. 2019-03-08. PMID:29904179. |
spinal muscular atrophy (sma) is caused by deletions/mutations in smn1. |
2019-03-08 |
2023-08-13 |
Not clear |
| Eike A Strathmann, Miriam Peters, Seyyedmohsen Hosseinibarkooie, Frank W Rigo, C Frank Bennett, Phillip G Zaworski, Karen S Chen, Michael Nothnagel, Brunhilde Wirt. Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PloS one. vol 13. issue 9. 2019-02-19. PMID:30188931. |
spinal muscular atrophy (sma) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (smn1) gene and insufficient functional smn protein produced by the smn2 copy gene. |
2019-02-19 |
2023-08-13 |
mouse |
| Rashin Mohseni, Mahmood Reza Ashrafi, Jafar Ai, Mahin Nikougoftar, Mahmoud Mohammadi, Masood Ghahvechi-Akbari, Alireza Shoae-Hassani, Amir Ali Hamidie. Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A. Journal of molecular neuroscience : MN. vol 67. issue 2. 2019-02-19. PMID:30535775. |
differentiation of admscs into acetylcholine-secreting motoneurons (mns) is a promising treatment for mn diseases, such as spinal muscular atrophy (sma), which is associated with the level of smn1 gene expression. |
2019-02-19 |
2023-08-13 |
Not clear |
| Matthew D Howell, Eric W Ottesen, Natalia N Singh, Rachel L Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M Whitley, Ravindra N Sing. TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy. Scientific reports. vol 7. issue 1. 2019-02-18. PMID:28775379. |
spinal muscular atrophy (sma) is caused by deletions or mutations of survival motor neuron 1 (smn1) gene. |
2019-02-18 |
2023-08-13 |
mouse |
| Vamshi K Rao, Daniel Kapp, Mary Schrot. Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease. Journal of managed care & specialty pharmacy. vol 24. issue 12-a Suppl. 2019-02-18. PMID:30582825. |
spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disease that, in most cases, involves homozygous deletion of the smn1 gene. |
2019-02-18 |
2023-08-13 |
Not clear |
| Teresa Gidaro, Laurent Servai. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Developmental medicine and child neurology. vol 61. issue 1. 2019-01-28. PMID:30221755. |
spinal muscular atrophy (sma) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (smn1); it affects 1 in 11 000 newborn infants. |
2019-01-28 |
2023-08-13 |
Not clear |
| Daniela Pletto, Silvia Capra, Adele Finardi, Francesca Colciaghi, Paola Nobili, Giorgio Stefano Battaglia, Denise Locatelli, Cinzia Cagnol. Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures. PloS one. vol 13. issue 6. 2018-12-31. PMID:29902268. |
spinal muscular atrophy (sma) is a severe autosomal recessive disease characterized by selective motor neuron degeneration, caused by disruptions of the survival of motor neuron 1 (smn1) gene. |
2018-12-31 |
2023-08-13 |
Not clear |
| Shuang Wu, Yun-Lu Li, Ning-Yi Cheng, Chong Wang, En-Lin Dong, Ying-Qian Lu, Jin-Jing Li, Xin-Xin Guo, Xiang Lin, Lu-Lu Lai, Zhi-Wei Liu, Ning Wang, Wan-Jin Che. c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy. Journal of molecular neuroscience : MN. vol 65. issue 2. 2018-11-05. PMID:29799103. |
c.835-5t>g variant in smn1 gene causes transcript exclusion of exon 7 and spinal muscular atrophy. |
2018-11-05 |
2023-08-13 |
Not clear |
| Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Yogik Onky Silvana Wijaya, Toshio Saito, Kayoko Saito, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2. Brain & development. vol 40. issue 8. 2018-10-30. PMID:29580671. |
intron-retained transcripts of the spinal muscular atrophy genes, smn1 and smn2. |
2018-10-30 |
2023-08-13 |
Not clear |
| Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Yogik Onky Silvana Wijaya, Toshio Saito, Kayoko Saito, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2. Brain & development. vol 40. issue 8. 2018-10-30. PMID:29580671. |
the smn genes, smn1 and smn2, are highly homologous genes which are related to the development or clinical severity of spinal muscular atrophy. |
2018-10-30 |
2023-08-13 |
Not clear |
| Phillip L Price, Dmytro Morderer, Wilfried Rossol. RNP Assembly Defects in Spinal Muscular Atrophy. Advances in neurobiology. vol 20. 2018-10-25. PMID:29916019. |
spinal muscular atrophy (sma) is a motor neuron disease caused by mutations/deletions within the survival of motor neuron 1 (smn1) gene that lead to a pathological reduction of smn protein levels. |
2018-10-25 |
2023-08-13 |
Not clear |
| Vanesa Lafarga, Olga Tapia, Sahil Sharma, Rocio Bengoechea, Georg Stoecklin, Miguel Lafarga, Maria T Bercian. CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN. Cellular and molecular life sciences : CMLS. vol 75. issue 3. 2018-10-24. PMID:28879433. |
deletion of or mutations in the smn1 gene cause spinal muscular atrophy (sma) with degeneration and loss of motor neurons. |
2018-10-24 |
2023-08-13 |
Not clear |
| Umbertina Conti Reed, Edmar Zanotel. Therapeutic advances in 5q-linked spinal muscular atrophy. Arquivos de neuro-psiquiatria. vol 76. issue 4. 2018-10-17. PMID:29742241. |
spinal muscular atrophy (sma) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the smn1 gene. |
2018-10-17 |
2023-08-13 |
Not clear |
| Hiroyuki Yamada, Yoshinobu Nishida, Takako Matsumoto, Toshiro Maihara, Hisahide Nishi. Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene. No to hattatsu = Brain and development. vol 48. issue 5. 2018-08-28. PMID:30010277. |
case study of a spinal muscular atrophy type 1 patient retaining one allele of the smn1 gene. |
2018-08-28 |
2023-08-13 |
Not clear |
| Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercell. Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy. Cell death & disease. vol 8. issue 12. 2018-08-27. PMID:29259166. |
spinal muscular atrophy (sma) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (smn1). |
2018-08-27 |
2023-08-13 |
mouse |
| Masakazu Shinohara, Mawaddah Ar Rochmah, Kenta Nakanishi, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Yoshihiro Bouike, Hisahide Nishi. New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion. The Kobe journal of medical sciences. vol 63. issue 2. 2018-08-27. PMID:29434172. |
new, improved version of the mcop-pcr screening system for detection of spinal muscular atrophy gene (smn1) deletion. |
2018-08-27 |
2023-08-13 |
Not clear |