| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Erkan Y Osman, Madeline R Miller, Kate L Robbins, Abby M Lombardi, Arleigh K Atkinson, Amanda J Brehm, Christian L Lorso. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24781211. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by the loss of survival motor neuron-1 (smn1). |
2015-04-23 |
2023-08-13 |
mouse |
| Chun-Chi Wang, Chi-Jen Shih, Yuh-Jyh Jong, Shou-Mei W. Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Analytica chimica acta. vol 833. 2015-04-20. PMID:24909772. |
universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting smn1 and smn2 genes in diagnosis of spinal muscular atrophy. |
2015-04-20 |
2023-08-13 |
human |
| Kentaro Sahashi, Gen Sobu. [The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics]. Brain and nerve = Shinkei kenkyu no shinpo. vol 66. issue 12. 2015-04-17. PMID:25475034. |
loss-of-function mutations in smn1 cause spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2015-04-17 |
2023-08-13 |
Not clear |
| Sara K Custer, Elliot J Androph. Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy. Molecular and cellular neurosciences. vol 61. 2015-04-15. PMID:24983518. |
one such disease is spinal muscular atrophy (sma), a genetic neuromuscular disorder caused by mutations in the smn1 gene resulting in low levels of survival motor neuron (smn) protein. |
2015-04-15 |
2023-08-13 |
Not clear |
| Jennifer L Taylor, Francis K Lee, Golriz Khadem Yazdanpanah, John F Staropoli, Mei Liu, John P Carulli, Chao Sun, Steven F Dobrowolski, W Harry Hannon, Robert F Vog. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clinical chemistry. vol 61. issue 2. 2015-04-08. PMID:25502182. |
spinal muscular atrophy (sma) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (smn1) gene. |
2015-04-08 |
2023-08-13 |
Not clear |
| Li-Ting Wang, Shyh-Shin Chiou, Yu-Mei Liao, Yuh-Jyh Jong, Shih-Hsien Hs. Survival of motor neuron protein downregulates miR-9 expression in patients with spinal muscular atrophy. The Kaohsiung journal of medical sciences. vol 30. issue 5. 2015-04-06. PMID:24751385. |
spinal muscular atrophy (sma) is a lethal hereditary disease caused by homozygous absence of the survival of the motor neuron (smn) 1 gene (smn1), and it is the leading genetic cause of infant mortality. |
2015-04-06 |
2023-08-13 |
mouse |
| Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong She. 3' Splice site sequences of spinal muscular atrophy related SMN2 pre-mRNA include enhancers for nearby exons. TheScientificWorldJournal. vol 2014. 2015-03-30. PMID:24616638. |
spinal muscular atrophy (sma) is a human genetic disease which occurs because of the deletion or mutation of smn1 gene. |
2015-03-30 |
2023-08-12 |
human |
| Kate L Robbins, Jacqueline J Glascock, Erkan Y Osman, Madeline R Miller, Christian L Lorso. Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Human molecular genetics. vol 23. issue 17. 2015-03-30. PMID:24722206. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by the loss of a single gene, survival motor neuron-1 (smn1). |
2015-03-30 |
2023-08-13 |
mouse |
| Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Son. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genetic testing and molecular biomarkers. vol 18. issue 8. 2015-03-30. PMID:25014214. |
subtle mutation detection of smn1 gene in chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for smn1 gene mutations. |
2015-03-30 |
2023-08-13 |
Not clear |
| Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Son. Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genetic testing and molecular biomarkers. vol 18. issue 8. 2015-03-30. PMID:25014214. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by mutations of the survival of motor neuron 1 (smn1) gene. |
2015-03-30 |
2023-08-13 |
Not clear |
| Alexander M Rossor, Emily C Oates, Hannah K Salter, Yang Liu, Sinead M Murphy, Rebecca Schule, Michael A Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Zuchner, David N Herrmann, Julian Blake, Janet E Sowden, Gyuda Acsadi, Michael L Rodriguez, Manoj P Menezes, Nigel F Clarke, Michaela Auer Grumbach, Simon L Bullock, Francesco Muntoni, Mary M Reilly, Kathryn N Nort. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a journal of neurology. vol 138. issue Pt 2. 2015-03-23. PMID:25497877. |
spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in smn1 on chromosome 5q. |
2015-03-23 |
2023-08-13 |
drosophila_melanogaster |
| Marco A Passini, Jie Bu, Amy M Richards, Christopher M Treleaven, Jennifer A Sullivan, Catherine R O'Riordan, Abraham Scaria, Adrian P Kells, Lluis Samaranch, Waldy San Sebastian, Thais Federici, Massimo S Fiandaca, Nicholas M Boulis, Krystof S Bankiewicz, Lamya S Shihabuddin, Seng H Chen. Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Human gene therapy. vol 25. issue 7. 2015-03-13. PMID:24617515. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1). |
2015-03-13 |
2023-08-12 |
mouse |
| Pádraig J Mulcahy, Kayleigh Iremonger, Evangelia Karyka, Saúl Herranz-Martín, Ka-To Shum, Janice Kal Van Tam, Mimoun Azzou. Gene therapy: a promising approach to treating spinal muscular atrophy. Human gene therapy. vol 25. issue 7. 2015-03-13. PMID:24845847. |
spinal muscular atrophy (sma) is a severe autosomal recessive disease caused by a genetic defect in the survival motor neuron 1 (smn1) gene, which encodes smn, a protein widely expressed in all eukaryotic cells. |
2015-03-13 |
2023-08-13 |
Not clear |
| Peng Wen Pao, Keng Boon Wee, Woon Chee Yee, Zacharias Aloysius Dwi Pramono, Zacharias Aloysius Dwipramon. Dual masking of specific negative splicing regulatory elements resulted in maximal exon 7 inclusion of SMN2 gene. Molecular therapy : the journal of the American Society of Gene Therapy. vol 22. issue 4. 2015-02-19. PMID:24317636. |
spinal muscular atrophy (sma) is a fatal autosomal recessive disease caused by survival motor neuron (smn) protein insufficiency due to smn1 mutations. |
2015-02-19 |
2023-08-12 |
Not clear |
| Melissa Bowerman, John-Paul Michalski, Ariane Beauvais, Lyndsay M Murray, Yves DeRepentigny, Rashmi Kothar. Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology. Human molecular genetics. vol 23. issue 13. 2015-01-26. PMID:24497575. |
spinal muscular atrophy (sma) is characterized by motor neuron loss, caused by mutations or deletions in the ubiquitously expressed survival motor neuron 1 (smn1) gene. |
2015-01-26 |
2023-08-12 |
mouse |
| Francesco D Tiziano, Giovanni Neri, Christina Brah. Biomarkers in rare disorders: the experience with spinal muscular atrophy. International journal of molecular sciences. vol 12. issue 1. 2015-01-19. PMID:21339974. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the smn1 gene. |
2015-01-19 |
2023-08-12 |
Not clear |
| Maria Jędrzejowska, Monika Gos, Janusz G Zimowski, Anna Kostera-Pruszczyk, Barbara Ryniewicz, Irena Hausmanowa-Petrusewic. Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients. Neuromuscular disorders : NMD. vol 24. issue 7. 2015-01-16. PMID:24844453. |
the aim of our study was to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy with excluded biallelic loss of the smn1 gene. |
2015-01-16 |
2023-08-13 |
Not clear |
| Marisa Brum, Cristina Semedo, Rui Guerreiro, José Pinto Marque. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case reports in neurological medicine. vol 2014. 2014-12-30. PMID:25548692. |
the laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of smn1 was negative but detected a homoplasmic mutation 9185t>c in atp6 gene. |
2014-12-30 |
2023-08-13 |
Not clear |
| V V Sokolik, A K Koliada, A V Shatil. [Effect of valproic acid on SMN protein level in peripheral blood mononuclear cells of patients with spinal muscular atrophy and different SMN2 copy numbers]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 114. issue 6. 2014-12-19. PMID:25042492. |
spinal muscular atrophy (sma) is currently untreatable hereditary disorder caused by few types of mutations in the smn1 gene and respective lack of gene's product - survival motor neuron protein (smn). |
2014-12-19 |
2023-08-13 |
Not clear |
| L Alías, M J Barceló, S Bernal, R Martínez-Hernández, E Also-Rallo, C Vázquez, A Santana, J M Millán, M Baiget, E F Tizzan. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clinical genetics. vol 85. issue 5. 2014-11-21. PMID:23799925. |
improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the smn1 gene. |
2014-11-21 |
2023-08-12 |
Not clear |