| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S Voutoufianakis, S Psoni, P Vorgia, F Tsekoura, K Kekou, J Traeger-Synodinos, S Kitsiou, E Kanavakis, H Fryssir. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 11. issue 4. 2007-09-05. PMID:17276711. |
coinheritance of mutated smn1 and mecp2 genes in a child with phenotypic features of spinal muscular atrophy (sma) type ii and rett syndrome. |
2007-09-05 |
2023-08-12 |
Not clear |
| b' Eva Zapletalov\\xc3\\xa1, Petra Hedvic\\xc3\\xa1kov\\xc3\\xa1, Libor Koz\\xc3\\xa1k, Petr Vondr\\xc3\\xa1cek, Renata Gaillyov\\xc3\\xa1, Tat\'\\xc3\\xa1na Mar\\xc3\\xadkov\\xc3\\xa1, Zdenek Kalina, Vera J\\xc3\\xbcttnerov\\xc3\\xa1, Jir\\xc3\\xad Fajkus, Lenka Fajkusov\\xc3\\xa. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscular disorders : NMD. vol 17. issue 6. 2007-07-26. PMID:17475491.' |
spinal muscular atrophy (sma) is caused by homozygous deletion of the smn1 gene in approximately 96% of cases. |
2007-07-26 |
2023-08-12 |
Not clear |
| Melanie Smith, Vanessa Calabro, Belinda Chong, Nicole Gardiner, Shannon Cowie, Desirée du Sar. Population screening and cascade testing for carriers of SMA. European journal of human genetics : EJHG. vol 15. issue 7. 2007-07-24. PMID:17392705. |
spinal muscular atrophy (sma) is one of the most common autosomal-recessive diseases, caused by absence of both copies of the survival motor neuron 1 (smn1) gene. |
2007-07-24 |
2023-08-12 |
Not clear |
| Ravindra N Sing. Evolving concepts on human SMN pre-mRNA splicing. RNA biology. vol 4. issue 1. 2007-07-23. PMID:17592254. |
deletion of smn1 coupled with the inability of smn2 to compensate for the loss of smn1 leads to spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2007-07-23 |
2023-08-12 |
human |
| Tsuyoshi Kashima, Nishta Rao, James L Manle. An intronic element contributes to splicing repression in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 9. 2007-06-13. PMID:17307868. |
the neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (smn1) gene. |
2007-06-13 |
2023-08-12 |
Not clear |
| Amy M Avila, Barrington G Burnett, Addis A Taye, Francesca Gabanella, Melanie A Knight, Parvana Hartenstein, Ziga Cizman, Nicholas A Di Prospero, Livio Pellizzoni, Kenneth H Fischbeck, Charlotte J Sumne. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of clinical investigation. vol 117. issue 3. 2007-05-04. PMID:17318264. |
the inherited motor neuron disease spinal muscular atrophy (sma) is caused by mutation of the telomeric survival motor neuron 1 (smn1) gene with retention of the centromeric smn2 gene. |
2007-05-04 |
2023-08-12 |
mouse |
| T K Rajendra, Graydon B Gonsalvez, Michael P Walker, Karl B Shpargel, Helen K Salz, A Gregory Mater. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. The Journal of cell biology. vol 176. issue 6. 2007-05-03. PMID:17353360. |
mutations in human survival motor neurons 1 (smn1) cause spinal muscular atrophy (sma) and are associated with defects in assembly of small nuclear ribonucleoproteins (snrnps) in vitro. |
2007-05-03 |
2023-08-12 |
mouse |
| Ahmad Hamim Sadewa, Yosuke Harada, Teguh Haryo Sasongko, Masafumi Matsuo, Hisahide Nishi. C117T variant in the SMN1 gene found in the Japanese population. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250497. |
the smn genes are closely related to the development of spinal muscular atrophy (sma); mutated smn1 causes sma and functional smn2 modifies the severity of sma. |
2007-03-27 |
2023-08-12 |
Not clear |
| Mohd S Watihayati, Azhar M H Zabidi-Hussin, Thean H Tang, Masafumi Matsuo, Hisahide Nishio, Bin Alwi Zilfali. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250498. |
deletion analyses of smn1 and naip genes in malaysian spinal muscular atrophy patients. |
2007-03-27 |
2023-08-12 |
Not clear |
| Mohd S Watihayati, Azhar M H Zabidi-Hussin, Thean H Tang, Masafumi Matsuo, Hisahide Nishio, Bin Alwi Zilfali. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250498. |
the survival motor neuron 1 (smn1) gene has been recognized to be responsible for spinal muscular atrophy (sma) because it is homozygously deleted in more than 90% of sma patients, irrespective of their clinical severity, whereas the neuronal apoptosis inhibitory protein (naip) gene is now considered to be a modifying factor of the severity of sma. |
2007-03-27 |
2023-08-12 |
Not clear |
| Veronica Setola, Mineko Terao, Denise Locatelli, Stefania Bassanini, Enrico Garattini, Giorgio Battagli. Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 6. 2007-03-22. PMID:17261814. |
spinal muscular atrophy (sma) is an autosomal recessive disease of childhood due to loss of the telomeric survival motor neuron gene, smn1. |
2007-03-22 |
2023-08-12 |
Not clear |
| 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 |