| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (smn1). |
2014-11-21 |
2023-08-12 |
Not clear |
| Chiara Zanetta, Monica Nizzardo, Chiara Simone, Erika Monguzzi, Nereo Bresolin, Giacomo P Comi, Stefania Cort. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clinical therapeutics. vol 36. issue 1. 2014-11-04. PMID:24360800. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease caused by mutations in the survival motor neuron gene (smn1) and the leading genetic cause of infant mortality. |
2014-11-04 |
2023-08-12 |
Not clear |
| Xiaoming Yang, Haihong Shen, Xue Gao, Xuexiu Zheng, Ryan Qin, Jianhua Zho. Predominant expression of exon 7 skipped SMN mRNAs in lung based on analysis of transcriptome sequencing datasets. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 35. issue 3. 2014-10-22. PMID:23955098. |
spinal muscular atrophy (sma) is caused by deletion of smn1, one of the two smn (survival of motor neuron) genes. |
2014-10-22 |
2023-08-12 |
human |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
an ashkenazi jewish smn1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. |
2014-10-16 |
2023-08-12 |
Not clear |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
spinal muscular atrophy is a common autosomal-recessive disorder caused by mutations of the smn1 gene. |
2014-10-16 |
2023-08-12 |
Not clear |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
spinal muscular atrophy carrier screening uses dosage-sensitive methods that determine smn1 copy number, and the frequency of carriers varies by ethnicity, with detection rates ranging from 71 to 94% due to the inability to identify silent (2 + 0) carriers with two copies of smn1 on one chromosome 5 and deletion on the other. |
2014-10-16 |
2023-08-12 |
Not clear |
| W David Arnold, Xiaokui Mo, Stephen J Kolb, Arthur H Burghes, John T Kisse. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle & nerve. vol 50. issue 3. 2014-10-06. PMID:24934113. |
the motor neuron response to smn1 deficiency in spinal muscular atrophy. |
2014-10-06 |
2023-08-13 |
Not clear |
| Jeremiah Hadwen, Duncan MacKenzie, Fahad Shamim, Kevin Mongeon, Martin Holcik, Alex MacKenzie, Faraz Faroo. VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models. Orphanet journal of rare diseases. vol 9. 2014-09-26. PMID:24405637. |
spinal muscular atrophy (sma) is one of the most common inherited causes of infant death and is caused by the loss of functional survival motor neuron (smn) protein due to mutations or deletion in the smn1 gene. |
2014-09-26 |
2023-08-12 |
mouse |
| Laura Nanna Lohkamp, Katja von Au, Hans-Hilmar Goebel, Wolfram Kress, Ulrike Grieben, Karin Drossel, Lutz Garbes, Brunhilde Wirth, Frank L Heppner, Werner Stenze. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene. Journal of child neurology. vol 29. issue 2. 2014-09-25. PMID:24334346. |
more than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in smn1, the telomeric copy of the smn gene. |
2014-09-25 |
2023-08-12 |
Not clear |
| Laura Nanna Lohkamp, Katja von Au, Hans-Hilmar Goebel, Wolfram Kress, Ulrike Grieben, Karin Drossel, Lutz Garbes, Brunhilde Wirth, Frank L Heppner, Werner Stenze. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene. Journal of child neurology. vol 29. issue 2. 2014-09-25. PMID:24334346. |
however, an intact full-length smn1 complementary deoxyribonucleic acid was identified, and smn protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy iii. |
2014-09-25 |
2023-08-12 |
Not clear |
| Darrick K Li, Sarah Tisdale, Jorge Espinoza-Derout, Luciano Saieva, Francesco Lotti, Livio Pellizzon. A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PloS one. vol 8. issue 8. 2014-09-23. PMID:23967270. |
spinal muscular atrophy (sma) is an inherited neurodegenerative disease caused by homozygous inactivation of the smn1 gene and reduced levels of the survival motor neuron (smn) protein. |
2014-09-23 |
2023-08-12 |
mouse |