| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Mawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Naoya Morisada, Shinichiro Yanagisawa, Toshio Saito, Kaori Kaneko, Kayoko Saito, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohar. Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy. The Kobe journal of medical sciences. vol 63. issue 2. 2018-08-27. PMID:29434173. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a mutation in smn1. |
2018-08-27 |
2023-08-13 |
Not clear |
| Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosak. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. Brain & development. vol 40. issue 4. 2018-08-20. PMID:29273277. |
the most common form of spinal muscular atrophy (sma) is a recessive disorder caused by smn1 mutations in 5q13, whereas the genetic etiologies of non-5q sma are very heterogenous and largely remain to be elucidated. |
2018-08-20 |
2023-08-13 |
Not clear |
| Mai Feng, Cong Liu, Yan Xia, Bo Liu, Miaojin Zhou, Zhuo Li, Qianru Sun, Zhiqing Hu, Yanchi Wang, Lingqian Wu, Xionghao Liu, Desheng Lian. Restoration of SMN expression in mesenchymal stem cells derived from gene-targeted patient-specific iPSCs. Journal of molecular histology. vol 49. issue 1. 2018-08-15. PMID:29209912. |
spinal muscular atrophy (sma) is primarily a neurodegenerative disease caused by the homozygous deletion of the survival motor neuron 1 (smn1) gene, thereby reducing smn protein expression. |
2018-08-15 |
2023-08-13 |
human |
| Eveline S Arnold, Kenneth H Fischbec. Spinal muscular atrophy. Handbook of clinical neurology. vol 148. 2018-08-10. PMID:29478602. |
autosomal-recessive proximal spinal muscular atrophy (werdnig-hoffmann, kugelberg-welander) is caused by mutation of the smn1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, smn2. |
2018-08-10 |
2023-08-13 |
Not clear |
| Rika Maruyama, Aleksander Touznik, Toshifumi Yokot. Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts. Journal of visualized experiments : JoVE. issue 135. 2018-07-30. PMID:29806836. |
spinal muscular atrophy (sma), a lethal neurological disease caused by the loss of smn1, presents a unique case in the field of antisense oligonucleotide (aon)-mediated therapy. |
2018-07-30 |
2023-08-13 |
Not clear |
| Olga Tapia, Josep Oriol Narcís, Javier Riancho, Olga Tarabal, Lídia Piedrafita, Jordi Calderó, Maria T Berciano, Miguel Lafarg. Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus. Neurobiology of disease. vol 108. 2018-07-23. PMID:28823932. |
spinal muscular atrophy (sma) is caused by a homozygous deletion or mutation in the survival motor neuron 1 (smn1) gene that leads to reduced levels of smn protein resulting in degeneration of motor neurons (mns). |
2018-07-23 |
2023-08-13 |
Not clear |
| Eduardo F Tizzano, Richard S Finke. Spinal muscular atrophy: A changing phenotype beyond the clinical trials. Neuromuscular disorders : NMD. vol 27. issue 10. 2018-06-28. PMID:28757001. |
spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by deletion or mutation in the smn1 gene. |
2018-06-28 |
2023-08-13 |
Not clear |
| Matthieu Vermeren, Rodanthi Lyraki, Sachin Wani, Rannar Airik, Omar Albagha, Richard Mort, Friedhelm Hildebrandt, Toby Hur. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice. Mammalian genome : official journal of the International Mammalian Genome Society. vol 28. issue 11-12. 2018-06-21. PMID:28936620. |
it has been linked to spinal muscular atrophy in humans through its interaction with smn1, and is one of six genes deleted in a human developmental microdeletion syndrome. |
2018-06-21 |
2023-08-13 |
mouse |
| Eva Szunyogova, Haiyan Zhou, Gillian K Maxwell, Rachael A Powis, Francesco Muntoni, Thomas H Gillingwater, Simon H Parso. Survival Motor Neuron (SMN) protein is required for normal mouse liver development. Scientific reports. vol 6. 2018-06-15. PMID:27698380. |
spinal muscular atrophy (sma) is caused by mutation or deletion of the survival motor neuron 1 (smn1) gene. |
2018-06-15 |
2023-08-13 |
mouse |