| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Nadia Passon, Giorgia Dubsky de Wittenau, Irena Jurman, Slobodanka Radovic, Elisa Bregant, Cristiano Molinis, Giuseppe Damante, Incoronata Renata Lonigr. Quick MLPA test for quantification of SMN1 and SMN2 copy numbers. Molecular and cellular probes. vol 24. issue 5. 2011-03-03. PMID:20659551. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused in about 95% of sma patients by homozygous deletion of the survival motor neuron 1 (smn1) gene or its conversion to the highly homologous smn2 gene. |
2011-03-03 |
2023-08-12 |
Not clear |
| Francesco Danilo Tiziano, Rosa Lomastro, Anna Maria Pinto, Sonia Messina, Adele D'Amico, Stefania Fiori, Carla Angelozzi, Marika Pane, Eugenio Mercuri, Enrico Bertini, Giovanni Neri, Christina Brah. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. Journal of medical genetics. vol 47. issue 12. 2011-03-02. PMID:20837492. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by mutations of the smn1 gene. |
2011-03-02 |
2023-08-12 |
Not clear |
| Tilman Voigt, Kathrin Meyer, Oliver Baum, Daniel Schümperl. Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscular disorders : NMD. vol 20. issue 11. 2011-01-21. PMID:20832308. |
in spinal muscular atrophy (sma), the smn1 gene is deleted or inactivated. |
2011-01-21 |
2023-08-12 |
mouse |
| Florence Petit, Jean-Marie Cuisset, Nathalie Rouaix-Emery, Claude Cancés, Bernard Sablonnière, Eric Bieth, Alexandre Moerman, Sylvie Sukno, Noah Hardy, Muriel Holder-Espinasse, Sylvie Manouvrier-Hanu, Louis Vallé. Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. Muscle & nerve. vol 43. issue 1. 2011-01-21. PMID:21171094. |
spinal muscular atrophy (sma) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene (smn1). |
2011-01-21 |
2023-08-12 |
Not clear |
| Shih-Hsien Hsu, Ming-Chi Lai, Tze-Kiong Er, San-Nan Yang, Chih-Hsing Hung, Hsin-Hung Tsai, Yu-Chieh Lin, Jan-Gowth Chang, Yi-Ching Lo, Yuh-Jyh Jon. Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts. Clinica chimica acta; international journal of clinical chemistry. vol 411. issue 23-24. 2011-01-19. PMID:20713032. |
spinal muscular atrophy (sma), a lethal hereditary disease caused by mutations of the survival of motor neuron 1 (smn1) gene, is the leading genetic cause of infant mortality. |
2011-01-19 |
2023-08-12 |
Not clear |
| S Bernal, L Alías, M J Barceló, E Also-Rallo, R Martínez-Hernández, J Gámez, E Guillén-Navarro, J Rosell, I Hernando, F J Rodríguez-Alvarez, S Borrego, J M Millán, C Hernández-Chico, M Baiget, P Fuentes-Prior, E F Tizzan. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. Journal of medical genetics. vol 47. issue 9. 2010-12-15. PMID:20577007. |
homozygous mutations of the telomeric smn1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (sma). |
2010-12-15 |
2023-08-12 |
Not clear |
| Chun-Chi Wang, Jan-Gowth Chang, Yen-Ling Chen, Yuh-Jyh Jong, Shou-Mei W. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. Electrophoresis. vol 31. issue 14. 2010-11-08. PMID:20564270. |
this method was used not only to quantify the copy numbers of highly homogenous telomeric smn (smn1)/centromeric smn genes in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular atrophy (sma). |
2010-11-08 |
2023-08-12 |
human |
| Chun-Chi Wang, Yuh-Jyh Jong, Jan-Gowth Chang, Yen-Ling Chen, Shou-Mei W. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Analytical and bioanalytical chemistry. vol 397. issue 6. 2010-10-08. PMID:20563565. |
universal fluorescent multiplex pcr and capillary electrophoresis for evaluation of gene conversion between smn1 and smn2 in spinal muscular atrophy. |
2010-10-08 |
2023-08-12 |
human |
| Chun-Chi Wang, Yuh-Jyh Jong, Jan-Gowth Chang, Yen-Ling Chen, Shou-Mei W. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Analytical and bioanalytical chemistry. vol 397. issue 6. 2010-10-08. PMID:20563565. |
spinal muscular atrophy (sma) is a very frequent inherited disease caused by the absence of the smn1 gene in approximately 94% of patients. |
2010-10-08 |
2023-08-12 |
human |
| Wei-Liang Liu, Fang Li, Hong-Wei Ma, Hai-Yan L. [Study of SMN gene in Chinese children with spinal muscular atrophy]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 12. issue 7. 2010-10-07. PMID:20637152. |
to study the incidence of homozygous absence of smn1 exons 7 and 8, smn gene conversion frequency and smn subtle mutations in children with spinal muscular atrophy (sma). |
2010-10-07 |
2023-08-12 |
Not clear |
| Thomas W Prior, Pamela J Snyder, Britton D Rink, Dennis K Pearl, Robert E Pyatt, David C Mihal, Todd Conlan, Betsy Schmalz, Laura Montgomery, Katie Ziegler, Carolee Noonan, Sayaka Hashimoto, Shannon Garne. Newborn and carrier screening for spinal muscular atrophy. American journal of medical genetics. Part A. vol 152A. issue 7. 2010-09-29. PMID:20578137. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2010-09-29 |
2023-08-12 |
Not clear |
| Ylva Mende, Miriam Jakubik, Markus Riessland, Frank Schoenen, Kristina Rossbach, André Kleinridders, Christoph Köhler, Thorsten Buch, Brunhilde Wirt. Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Human molecular genetics. vol 19. issue 11. 2010-09-22. PMID:20190275. |
as smn1 is absent in patients with spinal muscular atrophy (sma), the level of fl-smn2 determines the disease severity. |
2010-09-22 |
2023-08-12 |
mouse |
| Hsin-Lan Wen, Yuan-Ta Lin, Chen-Hung Ting, Sue Lin-Chao, Hung Li, Hsiu Mei Hsieh-L. Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Human molecular genetics. vol 19. issue 9. 2010-08-25. PMID:20176735. |
spinal muscular atrophy (sma), a motor neuron degeneration disorder, is caused by either mutations or deletions of survival motor neuron 1 (smn1) gene which result in insufficient smn protein. |
2010-08-25 |
2023-08-12 |
mouse |
| Ibrahim Baris, Ozdal Etlik, Vedat Koksal, S Tugba Arican-Bari. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. Molecular and cellular probes. vol 24. issue 3. 2010-08-10. PMID:20025960. |
rapid diagnosis of spinal muscular atrophy using tetra-primer arms pcr assay: simultaneous detection of smn1 and smn2 deletion. |
2010-08-10 |
2023-08-12 |
Not clear |
| Ibrahim Baris, Ozdal Etlik, Vedat Koksal, S Tugba Arican-Bari. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. Molecular and cellular probes. vol 24. issue 3. 2010-08-10. PMID:20025960. |
spinal muscular atrophy (sma), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (smn1) gene. |
2010-08-10 |
2023-08-12 |
Not clear |
| Sabine Rudnik-Schöneborn, Silke Vogelgesang, Sven Armbrust, Luitgard Graul-Neumann, Christoph Fusch, Klaus Zerre. Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle & nerve. vol 42. issue 1. 2010-07-15. PMID:20583119. |
infantile spinal muscular atrophy (sma) caused by homozygous smn1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons. |
2010-07-15 |
2023-08-12 |
mouse |
| Thomas W Prio. Spinal muscular atrophy: newborn and carrier screening. Obstetrics and gynecology clinics of North America. vol 37. issue 1. 2010-06-30. PMID:20494255. |
spinal muscular atrophy (sma) is a common autosomal-recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2010-06-30 |
2023-08-12 |
Not clear |
| Philippe Burlet, Nadine Gigarel, Maryse Magen, Séverine Drunat, Alexandra Benachi, Laetitia Hesters, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffan. Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy. European journal of human genetics : EJHG. vol 18. issue 4. 2010-06-29. PMID:19904299. |
with the detection of a homozygous deletion of the survival motor neuron 1 gene (smn1), prenatal and preimplantation genetic diagnosis (pgd) for spinal muscular atrophy has become feasible and widely applied. |
2010-06-29 |
2023-08-12 |
Not clear |
| Teguh Haryo Sasongko, Gunadi, Surini Yusoff, Amin Baig Atif, Hayati Fatemeh, Abdulqawee Rani, Marzuki Marini, Che Badariah Ab Aziz, Z A M H Zabidi-Hussin, Hisahide Nishio, Bin Alwi Zilfali. Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder. Brain & development. vol 32. issue 5. 2010-06-24. PMID:19664890. |
the majority of spinal muscular atrophy (sma) patients showed homozygous deletion or other mutations of smn1. |
2010-06-24 |
2023-08-12 |
human |
| b' Yannick Campion, Henry Neel, Thierry Gostan, Johann Soret, R\\xc3\\xa9my Bordonn\\xc3\\xa. Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene. The EMBO journal. vol 29. issue 11. 2010-06-21. PMID:20400941.' |
spinal muscular atrophy results from deletions or mutations in the survival of motor neuron (smn1) gene. |
2010-06-21 |
2023-08-12 |
Not clear |