| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Robert Olaso, Vandana Joshi, Julien Fernandez, Natacha Roblot, Sabrina Courageot, Jean Paul Bonnefont, Judith Melk. Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN. Physiological genomics. vol 24. issue 2. 2007-03-06. PMID:16118268. |
mutations of the survival of motor neuron gene (smn1) are responsible for spinal muscular atrophies (sma), a frequent recessive autosomal motor neuron disease. |
2007-03-06 |
2023-08-12 |
mouse |
| Natalia N Singh, Ravindra N Singh, Elliot J Androph. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic acids research. vol 35. issue 2. 2007-03-02. PMID:17170000. |
homozygous loss of smn1 causes spinal muscular atrophy (sma). |
2007-03-02 |
2023-08-12 |
human |
| Maria Jedrzejowska, Agnieszka Madej-Pilarczyk, Janusz Zimowski, Irena Hausmanowa-Petrusewic. [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA]. Neurologia i neurochirurgia polska. vol 40. issue 5. 2007-03-01. PMID:17103359. |
spinal muscular atrophy (sma) is an autosomal recessive hereditary disorder caused by mutations of the smn1 gene. |
2007-03-01 |
2023-08-12 |
Not clear |
| Brunhilde Wirth, Lars Brichta, Eric Hahne. Spinal muscular atrophy and therapeutic prospects. Progress in molecular and subcellular biology. vol 44. 2007-01-19. PMID:17076267. |
the molecular genetic basis of spinal muscular atrophy (sma), an autosomal recessive neuromuscular disorder, is the loss of function of the survival motor neuron gene (smn1). |
2007-01-19 |
2023-08-12 |
Not clear |
| Ridha Mrad, Imen Dorboz, Lamia Ben Jemaa, Faouzi Maazoul, Madiha Trabelsi, Meriem Chaabouni, Brahim Mlaiki, Nakjoua Miladi, Faycel Hentati, Habiba Chaaboun. Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients. La Tunisie medicale. vol 84. issue 8. 2007-01-19. PMID:17175684. |
molecular analysis of the smn1 and naip genes in 60 tunisian spinal muscular atrophy patients. |
2007-01-19 |
2023-08-12 |
Not clear |
| Brunhilde Wirth, Lars Brichta, Eric Hahne. Spinal muscular atrophy: from gene to therapy. Seminars in pediatric neurology. vol 13. issue 2. 2006-12-12. PMID:17027862. |
the molecular basis of spinal muscular atrophy (sma), an autosomal recessive neuromuscular disorder, is the homozygous loss of the survival motor neuron gene 1 (smn1). |
2006-12-12 |
2023-08-12 |
Not clear |
| Tessa L Carrel, Michelle L McWhorter, Eileen Workman, Honglai Zhang, Elizabeth C Wolstencroft, Christian Lorson, Gary J Bassell, Arthur H M Burghes, Christine E Beatti. Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 43. 2006-11-24. PMID:17065443. |
spinal muscular atrophy (sma) is a motor neuron degenerative disease caused by low levels of the survival motor neuron (smn) protein and is linked to mutations or loss of smn1 and retention of smn2. |
2006-11-24 |
2023-08-12 |
human |
| B Wirth, L Brichta, B Schrank, H Lochmüller, S Blick, A Baasner, R Helle. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Human genetics. vol 119. issue 4. 2006-09-12. PMID:16508748. |
spinal muscular atrophy (sma) is a recessive neuromuscular disorder caused by loss of the smn1 gene. |
2006-09-12 |
2023-08-12 |
Not clear |
| Honglai Zhang, Lei Xing, Wilfried Rossoll, Hynek Wichterle, Robert H Singer, Gary J Bassel. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 33. 2006-09-12. PMID:16914688. |
spinal muscular atrophy (sma), a progressive neurodegenerative disease affecting motor neurons, is caused by mutations or deletions of the smn1 gene encoding the survival of motor neuron (smn) protein. |
2006-09-12 |
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. |
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 |