| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Valérie Robin, Graziella Griffith, John-Paul L Carter, Christian J Leumann, Luis Garcia, Aurélie Goyenvall. Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment. Molecular therapy. Nucleic acids. vol 7. 2020-10-01. PMID:28624227. |
spinal muscular atrophy (sma) is a recessive disease caused by mutations in the smn1 gene, which encodes the protein survival motor neuron (smn), whose absence dramatically affects the survival of motor neurons. |
2020-10-01 |
2023-08-13 |
mouse |
| Loren L Flynn, Chalermchai Mitrpant, Ianthe L Pitout, Sue Fletcher, Steve D Wilto. Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript. Molecular therapy. Nucleic acids. vol 11. 2020-10-01. PMID:29858094. |
the severe childhood disease spinal muscular atrophy (sma) arises from the homozygous loss of the survival motor neuron 1 gene (smn1). |
2020-10-01 |
2023-08-13 |
Not clear |
| Marianna A Maretina, Galina Y Zheleznyakova, Kristina M Lanko, Anna A Egorova, Vladislav S Baranov, Anton V Kisele. Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates. Current genomics. vol 19. issue 5. 2020-10-01. PMID:30065610. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by mutations in the smn1 gene. |
2020-10-01 |
2023-08-13 |
Not clear |
| Eun Ji Ahn, Mi Sun Yum, Eun Hee Kim, Han Wook Yoo, Beom Hee Lee, Gu Hwan Kim, Tae Sung K. Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy. Journal of clinical neurology (Seoul, Korea). vol 13. issue 1. 2020-09-30. PMID:27730768. |
genotype-phenotype correlation of smn1 and naip deletions in korean patients with spinal muscular atrophy. |
2020-09-30 |
2023-08-13 |
Not clear |
| Graziela Jorge Polido, Mariana Mangini Vaz de Miranda, Nelson Carvas, Rodrigo de Holanda Mendonça, Fátima Aparecida Caromano, Umbertina Conti Reed, Edmar Zanoteli, Mariana Callil Voo. Cognitive performance of children with spinal muscular atrophy: A systematic review. Dementia & neuropsychologia. vol 13. issue 4. 2020-09-28. PMID:31844498. |
spinal muscular atrophy (sma) is genetic and progressive, caused by large bi-allelic deletions in the smn1 gene, or the association of a large deletion and a null variant. |
2020-09-28 |
2023-08-13 |
Not clear |
| Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvr. The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases. Frontiers in molecular biosciences. vol 7. 2020-09-28. PMID:32363199. |
the motor neurodegenerative disease spinal muscular atrophy (sma) is caused by alterations of the survival motor neuron 1 (smn1) gene involved in rna metabolism. |
2020-09-28 |
2023-08-13 |
mouse |
| Angelo Poletti, Kenneth H Fischbec. Combinatorial treatment for spinal muscular atrophy: An Editorial for 'Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells' on page 264. Journal of neurochemistry. vol 153. issue 2. 2020-09-01. PMID:32056234. |
spinal muscular atrophy (sma) is a severe autosomal recessive motor neuron disease caused by the loss of smn1, which encodes a protein essential for motor neuron survival. |
2020-09-01 |
2023-08-13 |
Not clear |
| Vittoria Pagliarini, Marika Guerra, Valentina Di Rosa, Claudia Compagnucci, Claudio Sett. Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells. Journal of neurochemistry. vol 153. issue 2. 2020-08-31. PMID:31811660. |
spinal muscular atrophy (sma) is a motor neuron disease caused by loss of function mutations in the survival motor neuron 1 (smn1) gene and reduced expression of the smn protein, leading to spinal motor neuron death, muscle weakness and atrophy. |
2020-08-31 |
2023-08-13 |
Not clear |
| Samiah A Al-Zaidy, Jerry R Mendel. From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1. Pediatric neurology. vol 100. 2020-08-26. PMID:31371124. |
spinal muscular atrophy is a devastating neurodegenerative autosomal recessive disease that results from survival of motor neuron 1 (smn1) gene mutation or deletion. |
2020-08-26 |
2023-08-13 |
human |
| Annapoorna Kannan, Xiaoting Jiang, Lan He, Saif Ahmad, Laxman Gangwan. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31828288. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by homozygous mutation or deletion of the survival motor neuron 1 (smn1) gene. |
2020-08-18 |
2023-08-13 |
mouse |
| Mert Karakaya, Cem Paketci, Janine Altmueller, Holger Thiele, Irmgard Hoelker, Uluc Yis, Brunhilde Wirt. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. American journal of medical genetics. Part A. vol 179. issue 8. 2020-07-28. PMID:31102495. |
infantile hereditary lower motor neuron disorders beyond 5q-spinal muscular atrophy (5q-sma) are usually caused by mutations other than deletions or mutations in smn1. |
2020-07-28 |
2023-08-13 |
Not clear |
| A L Frongia, D Natera-de Benito, C Ortez, M Alarcón, A Borrás, J Medina, M Vigo, N Padrós, O Moya, J Armas, L Carrera-García, J Expósito-Escudero, D Cuadras, S Bernal, L Martorell, J Colomer, A Nasciment. Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II. Neuromuscular disorders : NMD. vol 29. issue 7. 2020-07-27. PMID:31201046. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in smn1, which result in a degeneration of motor neurons in the spinal cord and brain stem. |
2020-07-27 |
2023-08-13 |
Not clear |
| Natalie L Courtney, Alannah J Mole, Alison K Thomson, Lyndsay M Murra. Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy. Cell death & disease. vol 10. issue 7. 2020-07-06. PMID:31273192. |
spinal muscular atrophy (sma) is a childhood motor neuron disease caused by mutations or deletions within the smn1 gene. |
2020-07-06 |
2023-08-13 |
mouse |
| Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956255. |
spinal muscular atrophy: new screening system with real-time mcop-pcr and pcr-rflp for smn1 deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956256. |
spinal muscular atrophy: advanced version of screening system with real-time mcop-pcr and pcr-rflp for smn1 deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohar. Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956257. |
spinal muscular atrophy (sma) is a common autosomal recessive disorder caused by smn1 gene deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Renske I Wadman, W Ludo van der Pol, Wendy Mj Bosboom, Fay-Lynn Asselman, Leonard H van den Berg, Susan T Iannaccone, Alexander Fje Vrancke. Drug treatment for spinal muscular atrophy types II and III. The Cochrane database of systematic reviews. vol 1. 2020-06-12. PMID:32006461. |
spinal muscular atrophy (sma) is caused by a homozygous deletion of the survival motor neuron 1 (smn1) gene on chromosome 5, or a heterozygous deletion in combination with a (point) mutation in the second smn1 allele. |
2020-06-12 |
2023-08-13 |
Not clear |
| Kevin A Kaifer, Eric Villalón, Benjamin S O'Brien, Samantha L Sison, Caley E Smith, Madeline E Simon, Jose Marquez, Siri O'Day, Abigail E Hopkins, Rachel Neff, Hansjörg Rindt, Allison D Ebert, Christian L Lorso. AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/-SMA model mice. Human molecular genetics. vol 28. issue 19. 2020-05-11. PMID:31211843. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in survival motor neuron 1 (smn1). |
2020-05-11 |
2023-08-13 |
mouse |
| Renske I Wadman, W Ludo van der Pol, Wendy Mj Bosboom, Fay-Lynn Asselman, Leonard H van den Berg, Susan T Iannaccone, Alexander Fje Vrancke. Drug treatment for spinal muscular atrophy type I. The Cochrane database of systematic reviews. vol 12. 2020-05-01. PMID:31825542. |
drug treatment for spinal muscular atrophy type i. spinal muscular atrophy (sma) is caused by a homozygous deletion of the survival motor neuron 1 (smn1) gene on chromosome 5, or a heterozygous deletion in combination with a point mutation in the second smn1 allele. |
2020-05-01 |
2023-08-13 |
Not clear |
| Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André M S Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanotel. Severe brain involvement in 5q spinal muscular atrophy type 0. Annals of neurology. vol 86. issue 3. 2020-04-13. PMID:31301241. |
spinal muscular atrophy (sma) type 0 is the most severe form of sma, associated with the smn1 gene and manifesting at birth. |
2020-04-13 |
2023-08-13 |
Not clear |