| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang, Yu-Wei Jin, Fang Son. A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26419278. |
a rare variant (c.863g>t) in exon 7 of smn1 disrupts mrna splicing and is responsible for spinal muscular atrophy. |
2017-07-26 |
2023-08-13 |
Not clear |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang, Yu-Wei Jin, Fang Son. A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26419278. |
proximal spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by deletion or mutation of smn1 (survival motor neuron 1). |
2017-07-26 |
2023-08-13 |
Not clear |
| Xin Zhao, Zhihua Feng, Karen K Y Ling, Anna Mollin, Josephine Sheedy, Shirley Yeh, Janet Petruska, Jana Narasimhan, Amal Dakka, Ellen M Welch, Gary Karp, Karen S Chen, Friedrich Metzger, Hasane Ratni, Francesco Lotti, Sarah Tisdale, Nikolai A Naryshkin, Livio Pellizzoni, Sergey Paushkin, Chien-Ping Ko, Marla Weetal. Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. Human molecular genetics. vol 25. issue 10. 2017-07-26. PMID:26931466. |
spinal muscular atrophy (sma) is caused by the loss or mutation of both copies of the survival motor neuron 1 (smn1) gene. |
2017-07-26 |
2023-08-13 |
mouse |
| Chung-Wei Yang, Chien-Lin Chen, Wei-Chun Chou, Ho-Chen Lin, Yuh-Jyh Jong, Li-Kai Tsai, Chun-Yu Chuan. An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy. PloS one. vol 11. issue 6. 2017-07-26. PMID:27331400. |
spinal muscular atrophy (sma) is an inherited neuromuscular disease resulting from a recessive mutation in the smn1 gene. |
2017-07-26 |
2023-08-13 |
mouse |
| Philipp Odermatt, Judith Trüb, Lavinia Furrer, Roger Fricker, Andreas Marti, Daniel Schümperl. Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing. Molecular therapy : the journal of the American Society of Gene Therapy. vol 24. issue 10. 2017-06-22. PMID:27456062. |
spinal muscular atrophy is due to the loss of smn1 gene function. |
2017-06-22 |
2023-08-13 |
mouse |
| Emmanuel Pinard, Luke Green, Michael Reutlinger, Marla Weetall, Nikolai A Naryshkin, John Baird, Karen S Chen, Sergey V Paushkin, Friedrich Metzger, Hasane Ratn. Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy. Journal of medicinal chemistry. vol 60. issue 10. 2017-06-19. PMID:28441483. |
spinal muscular atrophy (sma) is caused by mutation or deletion of the survival motor neuron 1 (smn1) gene, resulting in low levels of functional smn protein. |
2017-06-19 |
2023-08-13 |
mouse |
| Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Hong Wang, Yu-Wei Jin, Juan Du, Xiu-Shan Ge, Wen-Hui Zhang, Yan Li, Sheng-Xi He, Fang Son. Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy. The Journal of molecular diagnostics : JMD. vol 18. issue 5. 2017-06-06. PMID:27425821. |
proximal spinal muscular atrophy (sma) is a common fatal autosomal recessive disorder caused by deletion or mutation of the survival of motor neuron 1 (smn1). |
2017-06-06 |
2023-08-13 |
Not clear |
| Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C Frank Bennett, Min Jeong Kye, Anne C Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirt. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. American journal of human genetics. vol 100. issue 2. 2017-05-04. PMID:28132687. |
homozygous smn1 loss causes spinal muscular atrophy (sma), the most common lethal genetic childhood motor neuron disease. |
2017-05-04 |
2023-08-13 |
Not clear |
| Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres-Benito, Raphael H Rastetter, Kristina Hupperich, Andrea Hoffmann, Natalia Mendoza-Ferreira, Anna Kaczmarek, Eva Janzen, Janine Milbradt, Tobias Lamkemeyer, Frank Rigo, C Frank Bennett, Christoph Guschlbauer, Ansgar Büschges, Matthias Hammerschmidt, Markus Riessland, Min Jeong Kye, Christoph S Clemen, Brunhilde Wirt. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. American journal of human genetics. vol 99. issue 3. 2017-05-02. PMID:27499521. |
homozygous loss of smn1 causes spinal muscular atrophy (sma), the most common and devastating childhood genetic motor-neuron disease. |
2017-05-02 |
2023-08-13 |
mouse |
| Joonbae Seo, Natalia N Singh, Eric W Ottesen, Senthilkumar Sivanesan, Maria Shishimorova, Ravindra N Sing. Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. PloS one. vol 11. issue 4. 2017-03-23. PMID:27111068. |
loss of smn1 leads to spinal muscular atrophy (sma), the most frequent genetic cause of infant mortality. |
2017-03-23 |
2023-08-13 |
mouse |
| Yang Zou, Peiwen Xu, Jie Li, Sexin Huang, Ming Gao, Ranran Kang, Xuan Gao, Yuan Ga. [Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 33. issue 5. 2017-01-04. PMID:27577201. |
to explore the clinical application of droplet digital pcr (ddpcr) for genetic testing and prenatal diagnosis of spinal muscular atrophy (sma) with deletion of smn1 gene exon 7. |
2017-01-04 |
2023-08-13 |
Not clear |
| Sabine Rudnik-Schöneborn, Nina Barisić, Katja Eggermann, Nadina Ortiz Brüchle, Petra Grđan, Klaus Zerre. Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1. Neuromuscular disorders : NMD. vol 26. issue 2. 2016-12-13. PMID:26794302. |
distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the s230l mutation of smn1. |
2016-12-13 |
2023-08-13 |
Not clear |
| Chong-Chong Xu, Kyle R Denton, Zhi-Bo Wang, Xiaoqing Zhang, Xue-Jun L. Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy. Disease models & mechanisms. vol 9. issue 1. 2016-10-18. PMID:26586529. |
spinal muscular atrophy (sma), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (smn1) gene and subsequent decreased levels of functional smn. |
2016-10-18 |
2023-08-13 |
human |
| Yan-yan Cao, Yu-jin Qu, Sheng-xi He, Yan Li, Jin-Ll Bai, Yu-wei Jin, Hong Wang, Fang Son. Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy. Journal of Zhejiang University. Science. B. vol 17. issue 1. 2016-10-05. PMID:26739529. |
the homozygous loss of the survival motor neuron 1 (smn1) gene is the primary cause of spinal muscular atrophy (sma), a neuromuscular degenerative disease. |
2016-10-05 |
2023-08-13 |
Not clear |
| Amanda Carré, Candice Empe. Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors. Journal of genetic counseling. vol 25. issue 1. 2016-09-29. PMID:26250347. |
although sma is most commonly associated with the smn1 gene, a number of spinal muscular atrophies not caused by genetic changes in this gene may be included as differential diagnoses until confirmatory testing can be completed. |
2016-09-29 |
2023-08-13 |
Not clear |
| Nicole Armbruster, Annalisa Lattanzi, Matthieu Jeavons, Laetitia Van Wittenberghe, Bernard Gjata, Thibaut Marais, Samia Martin, Alban Vignaud, Thomas Voit, Fulvio Mavilio, Martine Barkats, Ana Buj-Bell. Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy. Molecular therapy. Methods & clinical development. vol 3. 2016-09-21. PMID:27652289. |
spinal muscular atrophy (sma) is an autosomal recessive disease of variable severity caused by mutations in the smn1 gene. |
2016-09-21 |
2023-08-13 |
mouse |
| Alessandra Patitucci, Angela Magariello, Carmine Ungaro, Maria Muglia, Francesca L Conforti, Anna L Gabriele, Luigi Citrigno, William Sproviero, Rosalucia Mazze. SMN1 gene copy number analyses for SMA healthy carriers in Italian population. Journal of pediatric genetics. vol 1. issue 2. 2016-09-14. PMID:27625809. |
the routine molecular test for spinal muscular atrophy (sma) diagnosis is based on the detection of a homozygous deletion of exons 7 and 8 of the telomeric copy of the survival motor neuron gene (smn1). |
2016-09-14 |
2023-08-13 |
Not clear |
| Olga Tapia, Rocío Bengoechea, Ana Palanca, Rosa Arteaga, J Fernando Val-Bernal, Eduardo F Tizzano, María T Berciano, Miguel Lafarg. Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy. Histochemistry and cell biology. vol 137. issue 5. 2016-09-08. PMID:22302308. |
type i spinal muscular atrophy (sma) is an autosomal recessive disorder caused by loss or mutations of the survival motor neuron 1 (smn1) gene. |
2016-09-08 |
2023-08-12 |
Not clear |
| Shi-Yan Ng, Boon Seng Soh, Natalia Rodriguez-Muela, David G Hendrickson, Feodor Price, John L Rinn, Lee L Rubi. Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular Atrophy. Cell stem cell. vol 17. issue 5. 2016-09-08. PMID:26321202. |
spinal muscular atrophy (sma) is caused by mutations in the smn1 gene. |
2016-09-08 |
2023-08-13 |
mouse |
| Ludwig Heesen, Michael Peitz, Laura Torres-Benito, Irmgard Hölker, Kristina Hupperich, Kristina Dobrindt, Johannes Jungverdorben, Swetlana Ritzenhofen, Beatrice Weykopf, Daniela Eckert, Seyyed Mohsen Hosseini-Barkooie, Markus Storbeck, Noemi Fusaki, Renata Lonigro, Raoul Heller, Min Jeong Kye, Oliver Brüstle, Brunhilde Wirt. Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cellular and molecular life sciences : CMLS. vol 73. issue 10. 2016-09-07. PMID:26573968. |
spinal muscular atrophy (sma) is a devastating motoneuron (mn) disorder caused by homozygous loss of smn1. |
2016-09-07 |
2023-08-13 |
Not clear |