| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Christian M Simon, Sibylle Jablonka, Rocio Ruiz, Lucia Tabares, Michael Sendtne. Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. Human molecular genetics. vol 19. issue 6. 2010-06-10. PMID:20022887. |
proximal spinal muscular atrophy (sma) is caused by homozygous loss or mutation of the smn1 gene on human chromosome 5. |
2010-06-10 |
2023-08-12 |
mouse |
| Simona Pedrotti, Pamela Bielli, Maria Paola Paronetto, Fabiola Ciccosanti, Gian Maria Fimia, Stefan Stamm, James L Manley, Claudio Sett. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. The EMBO journal. vol 29. issue 7. 2010-05-03. PMID:20186123. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the smn1 gene. |
2010-05-03 |
2023-08-12 |
Not clear |
| Wilfried Rossoll, Gary J Bassel. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results and problems in cell differentiation. vol 48. 2010-04-22. PMID:19343312. |
spinal muscular atrophy (sma) is a neurodegenerative disease that results from loss of function of the smn1 gene, encoding the ubiquitously expressed survival of motor neuron (smn) protein, a protein best known for its housekeeping role in the smn-gemin multiprotein complex involved in spliceosomal small nuclear ribonucleoprotein (snrnp) assembly. |
2010-04-22 |
2023-08-12 |
Not clear |
| Marco A Passini, Jie Bu, Eric M Roskelley, Amy M Richards, S Pablo Sardi, Catherine R O'Riordan, Katherine W Klinger, Lamya S Shihabuddin, Seng H Chen. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. The Journal of clinical investigation. vol 120. issue 4. 2010-04-21. PMID:20234094. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a deficiency of survival motor neuron (smn) due to mutations in the smn1 gene. |
2010-04-21 |
2023-08-12 |
mouse |
| Dirk Bäumer, Sheena Lee, George Nicholson, Joanna L Davies, Nicholas J Parkinson, Lyndsay M Murray, Thomas H Gillingwater, Olaf Ansorge, Kay E Davies, Kevin Talbo. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS genetics. vol 5. issue 12. 2010-04-02. PMID:20019802. |
spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the smn1 gene leading to reduced levels of full-length functional smn protein. |
2010-04-02 |
2023-08-12 |
mouse |
| Sungchan Cho, Gideon Dreyfus. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes & development. vol 24. issue 5. 2010-03-17. PMID:20194437. |
spinal muscular atrophy (sma) is caused by homozygous survival of motor neurons 1 (smn1) gene deletions, leaving a duplicate gene, smn2, as the sole source of smn protein. |
2010-03-17 |
2023-08-12 |
Not clear |
| Rocky G Gogliotti, Suzan M Hammond, Cathleen Lutz, Christine J Didonat. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochemical and biophysical research communications. vol 391. issue 1. 2010-03-15. PMID:19961830. |
proximal spinal muscular atrophy (sma) results from loss of the survival motor neuron 1 (smn1) gene, with retention of its nearly identical homolog, smn2. |
2010-03-15 |
2023-08-12 |
mouse |
| Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martin. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Human mutation. vol 31. issue 1. 2010-03-12. PMID:19953646. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by homozygous inactivation of the smn1 (survival motor neuron 1) gene. |
2010-03-12 |
2023-08-12 |
Not clear |
| Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, Rosa Lomastro, Sonia Messina, Claudio Bruno, Antonella Pini, Marika Pane, Adele D'Amico, Alessandro Ghezzo, Enrico Bertini, Eugenio Mercuri, Giovanni Neri, Christina Brah. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. European journal of human genetics : EJHG. vol 18. issue 1. 2010-02-22. PMID:19603064. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the smn1 gene. |
2010-02-22 |
2023-08-12 |
Not clear |
| Philippe Corcia, William Camu, Julien Praline, Paul H Gordon, Patrick Vourch, Christian Andre. The importance of the SMN genes in the genetics of sporadic ALS. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. vol 10. issue 5-6. 2010-02-18. PMID:19922137. |
the human genome contains two smn (survival motor neuron) genes: smn1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (sma), and smn2, the centromeric version whose copy number modulates the phenotype of sma. |
2010-02-18 |
2023-08-12 |
human |
| Hong Liu, Dina Shafey, Justin N Moores, Rashmi Kothar. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. Journal of neuroscience research. vol 88. issue 1. 2010-01-26. PMID:19642194. |
deletions or mutations in survival of motor neuron 1 (smn1) cause motor neuron loss and spinal muscular atrophy (sma), a neuromuscular disorder, with the most severe type manifesting in utero. |
2010-01-26 |
2023-08-12 |
mouse |