| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| James P Van Meerbeke, Rebecca M Gibbs, Heather L Plasterer, Wenyan Miao, Zhihua Feng, Ming-Yi Lin, Agnieszka A Rucki, Claribel D Wee, Bing Xia, Shefali Sharma, Vincent Jacques, Darrick K Li, Livio Pellizzoni, James R Rusche, Chien-Ping Ko, Charlotte J Sumne. The DcpS inhibitor RG3039 improves motor function in SMA mice. Human molecular genetics. vol 22. issue 20. 2014-04-22. PMID:23727836. |
spinal muscular atrophy (sma) is caused by mutations of the survival motor neuron 1 (smn1) gene, retention of the survival motor neuron 2 (smn2) gene and insufficient expression of full-length survival motor neuron (smn) protein. |
2014-04-22 |
2023-08-12 |
mouse |
| Rocky G Gogliotti, Herminio Cardona, Jasbir Singh, Sophie Bail, Carina Emery, Nancy Kuntz, Michael Jorgensen, Madel Durens, Bing Xia, Courtenay Barlow, Christopher R Heier, Heather L Plasterer, Vincent Jacques, Megerditch Kiledjian, Jill Jarecki, James Rusche, Christine J DiDonat. The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Human molecular genetics. vol 22. issue 20. 2014-04-22. PMID:23736298. |
spinal muscular atrophy (sma) is caused by insufficient levels of the survival motor neuron (smn) protein due to the functional loss of the smn1 gene and the inability of its paralog, smn2, to fully compensate due to reduced exon 7 splicing efficiency. |
2014-04-22 |
2023-08-12 |
mouse |
| Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Vebe. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. Human mutation. vol 32. issue 9. 2014-04-17. PMID:21542063. |
a leaky splicing mutation affecting smn1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. |
2014-04-17 |
2023-08-12 |
Not clear |
| Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Vebe. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. Human mutation. vol 32. issue 9. 2014-04-17. PMID:21542063. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder resulting, in most cases, from homozygous deletions of the smn1 gene or, in rare cases, from smn1 intragenic mutations. |
2014-04-17 |
2023-08-12 |
Not clear |
| Galina Y Zheleznyakova, Sarah Voisin, Anton V Kiselev, Markus Sällman Almén, Miguel J Xavier, Marianna A Maretina, Lyudmila I Tishchenko, Robert Fredriksson, Vladislav S Baranov, Helgi B Schiöt. Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. European journal of human genetics : EJHG. vol 21. issue 9. 2014-03-24. PMID:23299920. |
spinal muscular atrophy (sma) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (smn1) deletion. |
2014-03-24 |
2023-08-12 |
Not clear |
| Jered V McGivern, Teresa N Patitucci, Joshua A Nord, Marie-Elizabeth A Barabas, Cheryl L Stucky, Allison D Eber. Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia. vol 61. issue 9. 2014-02-21. PMID:23839956. |
spinal muscular atrophy (sma) is a genetic disorder caused by the deletion of the survival motor neuron 1 (smn1) gene that leads to loss of motor neurons in the spinal cord. |
2014-02-21 |
2023-08-12 |
mouse |
| Joonbae Seo, Matthew D Howell, Natalia N Singh, Ravindra N Sing. Spinal muscular atrophy: an update on therapeutic progress. Biochimica et biophysica acta. vol 1832. issue 12. 2014-02-20. PMID:23994186. |
deletion or mutation of smn1 combined with the inability of smn2 to compensate for the loss of smn1 results in spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2014-02-20 |
2023-08-12 |
Not clear |
| Susan M Kirwin, Kathy M B Vinette, Iris L Gonzalez, Hind Al Abdulwahed, Nouriya Al-Sannaa, Vicky L Funanag. A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. Molecular genetics & genomic medicine. vol 1. issue 2. 2014-02-05. PMID:24498607. |
spinal muscular atrophy (sma), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of smn1 copy number. |
2014-02-05 |
2023-08-12 |
Not clear |
| Florence Rage, Nawal Boulisfane, Khalil Rihan, Henry Neel, Thierry Gostan, Edouard Bertrand, Rémy Bordonné, Johann Sore. Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization. RNA (New York, N.Y.). vol 19. issue 12. 2014-01-17. PMID:24152552. |
spinal muscular atrophy is a neuromuscular disease resulting from mutations in the smn1 gene, which encodes the survival motor neuron (smn) protein. |
2014-01-17 |
2023-08-12 |
Not clear |
| Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanov. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. American journal of human genetics. vol 92. issue 6. 2014-01-09. PMID:23664119. |
the most common form of spinal muscular atrophy (sma) is a recessive disorder caused by deleterious smn1 mutations in 5q13, whereas the genetic etiologies of non-5q sma are very heterogeneous and largely remain to be elucidated. |
2014-01-09 |
2023-08-12 |
drosophila_melanogaster |
| W David Arnold, Arthur H M Burghe. Spinal muscular atrophy: development and implementation of potential treatments. Annals of neurology. vol 74. issue 3. 2013-12-10. PMID:23939659. |
spinal muscular atrophy is caused by loss of the survival motor neuron 1 (smn1) gene and reduced levels of smn protein. |
2013-12-10 |
2023-08-12 |
mouse |
| Justin G Boyer, Lyndsay M Murray, Kyle Scott, Yves De Repentigny, Jean-Marc Renaud, Rashmi Kothar. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skeletal muscle. vol 3. issue 1. 2013-11-15. PMID:24119341. |
the childhood neuromuscular disease spinal muscular atrophy (sma) is caused by mutations or deletions of the survival motor neuron (smn1) gene. |
2013-11-15 |
2023-08-12 |
mouse |
| Melissa S Cobb, Ferril F Rose, Hansjörg Rindt, Jacqueline J Glascock, Monir Shababi, Madeline R Miller, Erkan Y Osman, Pei-Fen Yen, Michael L Garcia, Brittanie R Martin, Mary J Wetz, Chiara Mazzasette, Zhihua Feng, Chien-Ping Ko, Christian L Lorso. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Human molecular genetics. vol 22. issue 9. 2013-11-14. PMID:23390132. |
spinal muscular atrophy (sma) is due to the loss of the survival motor neuron gene 1 (smn1), resulting in motor neuron (mn) degeneration, muscle atrophy and loss of motor function. |
2013-11-14 |
2023-08-12 |
mouse |
| Chalermchai Mitrpant, Paul Porensky, Haiyan Zhou, Loren Price, Francesco Muntoni, Sue Fletcher, Steve D Wilton, Arthur H M Burghe. Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PloS one. vol 8. issue 4. 2013-11-12. PMID:23630626. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron 1 (smn1) gene, resulting in reduced smn protein. |
2013-11-12 |
2023-08-12 |
mouse |
| Francesco D Tiziano, Rosa Lomastro, Lorena Di Pietro, Maria Barbara Pasanisi, Stefania Fiori, Carla Angelozzi, Emanuela Abiusi, Corrado Angelini, Gianni Sorarù, Alessandra Gaiani, Tiziana Mongini, Liliana Vercelli, Gessica Vasco, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Luisa Politano, Luigia Passamano, Grazia Di Gregorio, Cristina Montomoli, Chiara Orsi, Angela Campanella, Renato Mantegazza, Lucia Morand. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. European journal of human genetics : EJHG. vol 21. issue 6. 2013-10-21. PMID:23073312. |
proximal spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations of the smn1 gene. |
2013-10-21 |
2023-08-12 |
Not clear |
| Magdalena Kuźma-Kozakiewicz, Maria Jędrzejowska, Beata Kaźmiercza. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 5-6. 2013-10-17. PMID:23477310. |
smn1 gene duplications are more frequent in patients with progressive muscular atrophy. |
2013-10-17 |
2023-08-12 |
Not clear |
| Magdalena Kuźma-Kozakiewicz, Maria Jędrzejowska, Beata Kaźmiercza. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 5-6. 2013-10-17. PMID:23477310. |
survival motor neuron 1 (smn1) is a causative gene for autosomal recessive infantile and juvenile proximal spinal muscular atrophy. |
2013-10-17 |
2023-08-12 |
Not clear |
| Hsin-Lan Wen, Chen-Hung Ting, Huei-Chun Liu, Hung Li, Sue Lin-Cha. Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a mouse model of spinal muscular atrophy. Neurobiology of disease. vol 52. 2013-08-05. PMID:23268200. |
spinal muscular atrophy (sma), a genetic neurodegenerative disorder, is caused by mutations or deletions in the survival of motor neuron 1 (smn1) gene that result in smn deficiency. |
2013-08-05 |
2023-08-12 |
mouse |
| b' Gabriel Sanchez, Alain Y Dury, Lyndsay M Murray, Olivier Biondi, Helina Tadesse, Rachid El Fatimy, Rashmi Kothary, Fr\\xc3\\xa9d\\xc3\\xa9ric Charbonnier, Edouard W Khandjian, Jocelyn C\\xc3\\xb4t\\xc3\\xa. A novel function for the survival motoneuron protein as a translational regulator. Human molecular genetics. vol 22. issue 4. 2013-07-05. PMID:23136128.' |
smn1, the causative gene for spinal muscular atrophy (sma), plays a housekeeping role in the biogenesis of small nuclear rna ribonucleoproteins. |
2013-07-05 |
2023-08-12 |
mouse |
| Katherine V Bricceno, Paul J Sampognaro, James P Van Meerbeke, Charlotte J Sumner, Kenneth H Fischbeck, Barrington G Burnet. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human molecular genetics. vol 21. issue 20. 2013-06-21. PMID:22798624. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (smn1) gene and deficient expression of the ubiquitously expressed smn protein. |
2013-06-21 |
2023-08-12 |
mouse |