| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hidenobu Miyaso, Masayo Okumura, Shinichi Kondo, Satoshi Higashide, Hiroshi Miyajima, Kazunori Imaizum. An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. The Journal of biological chemistry. vol 278. issue 18. 2003-06-17. PMID:12604607. |
spinal muscular atrophy is caused by the homozygous loss of survival motor neuron 1 (smn1). |
2003-06-17 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. The Journal of molecular diagnostics : JMD. vol 4. issue 4. 2003-04-25. PMID:12411585. |
approximately 94% of patients with spinal muscular atrophy lack both copies of smn1 exon 7, and most carriers have only one copy of smn1 exon 7. |
2003-04-25 |
2023-08-12 |
Not clear |
| Retno Sutomo, Tomoko Akutsu, Yasuhiro Takeshima, Hisahide Nishio, Ahmad Hamim Sadewa, Yosuke Harada, Masafumi Matsu. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. American journal of medical genetics. vol 113. issue 2. 2003-04-07. PMID:12407717. |
rapid smn1 deletion test using dhplc to screen patients with spinal muscular atrophy. |
2003-04-07 |
2023-08-12 |
Not clear |
| J M Wilmshurst, L Reynolds, R Van Toorn, F Leisegang, H E Henderso. Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. Clinical genetics. vol 62. issue 2. 2003-02-13. PMID:12220455. |
spinal muscular atrophy in black south africans: concordance with the universal smn1 genotype. |
2003-02-13 |
2023-08-12 |
human |
| Yvonne Hofmann, Brunhilde Wirt. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Human molecular genetics. vol 11. issue 17. 2003-02-03. PMID:12165565. |
proximal spinal muscular atrophy (sma) is a common motor neuron disease caused by homozygous loss of the survival motor neuron gene (smn1). |
2003-02-03 |
2023-08-12 |
Not clear |
| Sarah E Whitehead, Kevin W Jones, Xing Zhang, Xiaodong Cheng, Rebecca M Terns, Michael P Tern. Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. The Journal of biological chemistry. vol 277. issue 50. 2003-01-28. PMID:12244096. |
deletion or mutation of the smn1 (survival of motor neurons) gene causes the common, fatal neuromuscular disease spinal muscular atrophy. |
2003-01-28 |
2023-08-12 |
Not clear |
| I Cuscó, M J Barceló, C Soler, J Parra, M Baiget, E Tizzan. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG : an international journal of obstetrics and gynaecology. vol 109. issue 11. 2002-12-26. PMID:12452462. |
prenatal diagnosis of spinal muscular atrophy is usually performed in high risk couples by detection of a homozygous deletion in the survival motor neurone gene (smn1). |
2002-12-26 |
2023-08-12 |
Not clear |
| I Cuscó, M J Barceló, C Soler, J Parra, M Baiget, E Tizzan. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG : an international journal of obstetrics and gynaecology. vol 109. issue 11. 2002-12-26. PMID:12452462. |
the aim of this study was to validate a smn1 gene quantitative test to help the couples formed by one spinal muscular atrophy carrier and a partner of the general population (1/200 potential risk) to achieve a less ambiguous risk result for the pregnancy. |
2002-12-26 |
2023-08-12 |
Not clear |
| P Corcia, J Khoris, P Couratier, V Mayeux-Portas, E Bieth, B De Toffol, A Autret, J P Müh, C Andres, W Cam. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427909. |
smn1 gene study in three families in which als and spinal muscular atrophy co-exist. |
2002-12-09 |
2023-08-12 |
Not clear |
| P Corcia, J Khoris, P Couratier, V Mayeux-Portas, E Bieth, B De Toffol, A Autret, J P Müh, C Andres, W Cam. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427909. |
spinal muscular atrophy (sma) is caused by smn1 gene deletions or mutations, and als is the most frequent motor neuron condition in adults. |
2002-12-09 |
2023-08-12 |
Not clear |
| Andoni Echaniz-Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant, André Reeber, Judith Melki, Jean-Marie Warte. Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. Journal of neurology. vol 249. issue 3. 2002-11-07. PMID:11993528. |
we searched for deletions of smn1 and smn2 in a group of 11 patients with sporadic adult-onset lower motor neuron disease (also referred to as "progressive muscular atrophy") and found an excess of patients carrying homozygous deletions of smn2 exon 7 (36% versus 5% in the normal population). |
2002-11-07 |
2023-08-12 |
Not clear |
| Shuji Ogino, Debra G B Leonard, Hanna Rennert, Warren J Ewens, Robert B Wilso. Genetic risk assessment in carrier testing for spinal muscular atrophy. American journal of medical genetics. vol 110. issue 4. 2002-10-25. PMID:12116201. |
as evidenced by the complete absence of a functionally critical sequence in exon 7, approximately 94% of individuals with clinically typical spinal muscular atrophy (sma) lack both copies of the smn1 gene at 5q13. |
2002-10-25 |
2023-08-12 |
Not clear |
| Karen A Wehner, Laura Ayala, Youngseon Kim, Philip J Young, Betsy A Hosler, Christian L Lorson, Susan J Baserga, Jonathan W Franci. Survival motor neuron protein in the nucleolus of mammalian neurons. Brain research. vol 945. issue 2. 2002-10-25. PMID:12126878. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by mutations in the survival motor neuron gene (smn1). |
2002-10-25 |
2023-08-12 |
Not clear |
| Suzie Lefebvre, Philippe Burlet, Louis Viollet, Solange Bertrandy, Céline Huber, Caroline Belser, Arnold Munnic. A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. Human molecular genetics. vol 11. issue 9. 2002-09-23. PMID:11978761. |
spinal muscular atrophy (sma) is caused by the loss of functional survival motor neuron 1 (smn1) protein. |
2002-09-23 |
2023-08-12 |
Not clear |
| Philip J Young, Christine J DiDonato, Diane Hu, Rashmi Kothary, Elliot J Androphy, Christian L Lorso. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Human molecular genetics. vol 11. issue 5. 2002-09-09. PMID:11875052. |
proximal spinal muscular atrophy (sma) is caused by the homozygous loss of survival motor neuron (smn1). |
2002-09-09 |
2023-08-12 |
Not clear |
| Carmen Cifuentes-Diaz, Sophie Nicole, Maria E Velasco, Christophe Borra-Cebrian, Cristina Panozzo, Tony Frugier, Gaelle Millet, Natacha Roblot, Vandana Joshi, Judith Melk. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Human molecular genetics. vol 11. issue 12. 2002-08-30. PMID:12023986. |
mutations of survival of the motor neuron gene (smn1) are responsible for spinal muscular atrophy (sma), a common genetic cause of death in childhood. |
2002-08-30 |
2023-08-12 |
mouse |
| Hiroshi Miyajima, Hidenobu Miyaso, Masayo Okumura, Junko Kurisu, Kazunori Imaizum. Identification of a cis-acting element for the regulation of SMN exon 7 splicing. The Journal of biological chemistry. vol 277. issue 26. 2002-08-06. PMID:11956196. |
spinal muscular atrophy results from the loss of functional survival motor neuron (smn1) alleles. |
2002-08-06 |
2023-08-12 |
Not clear |
| Yolanda Martín, Ana Valero, Emilia del Castillo, Samuel I Pascual, Concepción Hernández-Chic. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Human genetics. vol 110. issue 3. 2002-05-21. PMID:11935338. |
autosomal recessive spinal muscular atrophy (sma) is a disease resulting from mutations in the telomeric survival motor neuron gene ( smn1). |
2002-05-21 |
2023-08-12 |
Not clear |
| Luca Cartegni, Adrian R Kraine. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature genetics. vol 30. issue 4. 2002-05-02. PMID:11925564. |
disruption of an sf2/asf-dependent exonic splicing enhancer in smn2 causes spinal muscular atrophy in the absence of smn1. |
2002-05-02 |
2023-08-12 |
Not clear |
| Luca Cartegni, Adrian R Kraine. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature genetics. vol 30. issue 4. 2002-05-02. PMID:11925564. |
spinal muscular atrophy results from the lack of functional survival of motor neuron 1 gene (smn1), even though all affected individuals carry a nearly identical, normal smn2 gene. |
2002-05-02 |
2023-08-12 |
Not clear |