| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| María Jesús Barceló, Laura Alias, Lídia Caselles, Yolanda Robles, Montserrat Baiget, Eduardo F Tizzan. Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis. Genetics in medicine : official journal of the American College of Medical Genetics. vol 8. issue 4. 2006-08-10. PMID:16617248. |
two independent mutations of the smn1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis. |
2006-08-10 |
2023-08-12 |
Not clear |
| María Jesús Barceló, Laura Alias, Lídia Caselles, Yolanda Robles, Montserrat Baiget, Eduardo F Tizzan. Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis. Genetics in medicine : official journal of the American College of Medical Genetics. vol 8. issue 4. 2006-08-10. PMID:16617248. |
we present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the smn1 gene. |
2006-08-10 |
2023-08-12 |
Not clear |
| Lars Brichta, Irmgard Holker, Karsten Haug, Thomas Klockgether, Brunhilde Wirt. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Annals of neurology. vol 59. issue 6. 2006-07-14. PMID:16607616. |
spinal muscular atrophy results from loss of the survival motor neuron 1 (smn1) gene and malfunction of the remaining smn2. |
2006-07-14 |
2023-08-12 |
human |
| Benoît Renvoisé, Kevinee Khoobarry, Marie-Claude Gendron, Christian Cibert, Louis Viollet, Suzie Lefebvr. Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells. Journal of cell science. vol 119. issue Pt 4. 2006-06-12. PMID:16449324. |
mutations of the survival motor neuron gene smn1 cause the inherited disease spinal muscular atrophy (sma). |
2006-06-12 |
2023-08-12 |
Not clear |
| Yi-Ning Su, Chia-Cheng Hung, Hung Li, Chien-Nan Lee, Wen-Fang Cheng, Po-Nien Tsao, Ming-Cheng Chang, Chia-Li Yu, Wu-Shiun Hsieh, Win-Li Lin, Su-Ming Hs. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Human mutation. vol 25. issue 5. 2006-06-05. PMID:15832310. |
autosomal recessive spinal muscular atrophy (sma) is a common, fatal neuromuscular disease caused by homozygous absence of the smn1 gene in approximately 94% of patients. |
2006-06-05 |
2023-08-12 |
Not clear |
| Yi-Ning Su, Chia-Cheng Hung, Hung Li, Chien-Nan Lee, Wen-Fang Cheng, Po-Nien Tsao, Ming-Cheng Chang, Chia-Li Yu, Wu-Shiun Hsieh, Win-Li Lin, Su-Ming Hs. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Human mutation. vol 25. issue 5. 2006-06-05. PMID:15832310. |
a total of 25 patients with spinal muscular atrophy lacking the smn1 gene as well as 309 control individuals from the general population and the family members of patients with sma were analyzed. |
2006-06-05 |
2023-08-12 |
Not clear |
| Luca Cartegni, Michelle L Hastings, John A Calarco, Elisa de Stanchina, Adrian R Kraine. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. American journal of human genetics. vol 78. issue 1. 2006-05-30. PMID:16385450. |
determinants of exon 7 splicing in the spinal muscular atrophy genes, smn1 and smn2. |
2006-05-30 |
2023-08-12 |
Not clear |
| Luca Cartegni, Michelle L Hastings, John A Calarco, Elisa de Stanchina, Adrian R Kraine. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. American journal of human genetics. vol 78. issue 1. 2006-05-30. PMID:16385450. |
spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, smn1. |
2006-05-30 |
2023-08-12 |
Not clear |
| Charlotte J Sumne. Therapeutics development for spinal muscular atrophy. NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics. vol 3. issue 2. 2006-05-03. PMID:16554261. |
spinal muscular atrophy is caused by mutation of the telomeric copy of the survival motor neuron gene (smn1), but all patients retain a centromeric copy of the gene, smn2. |
2006-05-03 |
2023-08-12 |
mouse |
| Hung-Yi Kao, Yi-Ning Su, Hsin-Kai Liao, Ming S Liu, Yu-Ju Che. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. Clinical chemistry. vol 52. issue 3. 2006-04-13. PMID:16439605. |
spinal muscular atrophy (sma) is a common inherited and fatal neuromuscular disease caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes smn1 and smn2. |
2006-04-13 |
2023-08-12 |
Not clear |
| Nirmal K Singh, Natalia N Singh, Elliot J Androphy, Ravindra N Sing. Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Molecular and cellular biology. vol 26. issue 4. 2006-04-03. PMID:16449646. |
in spinal muscular atrophy (sma), smn2 is not able to compensate for the loss of smn1 due to exclusion of exon 7. |
2006-04-03 |
2023-08-12 |
human |
| Y Sun, M Grimmler, V Schwarzer, F Schoenen, U Fischer, B Wirt. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Human mutation. vol 25. issue 1. 2006-02-27. PMID:15580564. |
molecular and functional analysis of intragenic smn1 mutations in patients with spinal muscular atrophy. |
2006-02-27 |
2023-08-12 |
Not clear |
| Y Sun, M Grimmler, V Schwarzer, F Schoenen, U Fischer, B Wirt. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Human mutation. vol 25. issue 1. 2006-02-27. PMID:15580564. |
the autosomal recessive spinal muscular atrophy (sma), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (smn1). |
2006-02-27 |
2023-08-12 |
Not clear |
| Jaime Lin, Ronaldo J M da Silva, Eugênio Grill. Rapidly progressive spinal muscular atrophy in an ambulatory 2-year-old male. Pediatric neurology. vol 33. issue 1. 2006-01-09. PMID:15993324. |
dna analysis revealed homozygous deletion in exons 7 and 8 of smn1 gene, confirming the diagnosis of spinal muscular atrophy. |
2006-01-09 |
2023-08-12 |
Not clear |
| Jill Jarecki, Xiaocun Chen, Alexandra Bernardino, Daniel D Coovert, Michael Whitney, Arthur Burghes, Jeffrey Stack, Brian A Pollo. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Human molecular genetics. vol 14. issue 14. 2005-12-21. PMID:15944201. |
we have exploited the existence of a second copy of the human smn gene (smn2) to develop a high-throughput screening strategy to identify potential small molecule therapeutics for the genetic disease spinal muscular atrophy (sma), which is caused by the loss of the smn1 gene. |
2005-12-21 |
2023-08-12 |
human |
| Federica Sangiuolo, Antonio Filareto, Paola Spitalieri, Maria Lucia Scaldaferri, Ruggiero Mango, Emanuela Bruscia, Gennaro Citro, Ercole Brunetti, Massimo De Felici, Giuseppe Novell. In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. Human gene therapy. vol 16. issue 7. 2005-12-15. PMID:16000068. |
the majority of patients affected by spinal muscular atrophy (sma) have deletion of the survival of motor neuron 1 (smn1) gene, but they retain a "nonfunctional" copy of the duplicate gene (smn2) in their genome. |
2005-12-15 |
2023-08-12 |
human |
| Makiko Saito, Yuyan Chen, Masashi Mizuguchi, Takashi Igarash. [Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage]. No to hattatsu = Brain and development. vol 37. issue 5. 2005-10-18. PMID:16164247. |
spinal muscular atrophy (sma) is a common autosomal recessive disorder, caused by homozygous deletion of the survival motor neuron gene 1 (smn1). |
2005-10-18 |
2023-08-12 |
Not clear |
| Wenlan Wang, Darlise Dimatteo, Vicky L Funanage, Mena Scavin. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Molecular genetics and metabolism. vol 85. issue 1. 2005-09-26. PMID:15862279. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in the telomeric copy of the survival motor neuron (smn1) gene. |
2005-09-26 |
2023-08-12 |
Not clear |
| Maria Jedrzejowska, Wojciech Wiszniewski, Janusz Zimowski, Anna Kostera-Pruszczyk, Barbara Ryniewicz, Jerzy Bal, Jacek Zaremba, Tadeusz Mazurczak, Irena Hausmanowa-Petrusewic. Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA). Neurologia i neurochirurgia polska. vol 39. issue 2. 2005-09-08. PMID:15871052. |
proximal spinal muscular atrophy (sma) is an autosomal recessive disorder caused by mutations of the smn1 gene. |
2005-09-08 |
2023-08-12 |
Not clear |
| Akanchha Kesari, Hanna Rennert, Debra G B Leonard, Balraj Mitta. SMN1 dosage analysis in spinal muscular atrophy from India. BMC medical genetics. vol 6. 2005-07-28. PMID:15910686. |
smn1 dosage analysis in spinal muscular atrophy from india. |
2005-07-28 |
2023-08-12 |
Not clear |