| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Naresh K Genabai, Saif Ahmad, Zhanying Zhang, Xiaoting Jiang, Cynthia A Gabaldon, Laxman Gangwan. Genetic inhibition of JNK3 ameliorates spinal muscular atrophy. Human molecular genetics. vol 24. issue 24. 2016-08-25. PMID:26423457. |
mutation of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma), an autosomal recessive neurodegenerative disorder that occurs in early childhood. |
2016-08-25 |
2023-08-13 |
mouse |
| Kai Chen Wang, Chi Chang Chang, Yu-Fen Chang, Szu-Hsien Wang, Chien-Kuan Chiang, Ching-Piao Tsa. Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy. Journal of neurogenetics. vol 29. issue 2-3. 2016-08-19. PMID:25895942. |
spinal muscular atrophy (sma) is a common autosomal recessive disorder in humans, caused by the homozygous absence of the survival motor neuron gene 1 (smn1). |
2016-08-19 |
2023-08-13 |
human |
| Stephen J Kolb, John T Kisse. Spinal Muscular Atrophy. Neurologic clinics. vol 33. issue 4. 2016-08-08. PMID:26515624. |
spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, smn1. |
2016-08-08 |
2023-08-13 |
Not clear |
| Phillip Zaworski, Katharine M von Herrmann, Shannon Taylor, Sara S Sunshine, Kathleen McCarthy, Nicole Risher, Tara Newcomb, Marla Weetall, Thomas W Prior, Kathryn J Swoboda, Karen S Chen, Sergey Paushki. SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials. PloS one. vol 11. issue 3. 2016-08-08. PMID:26953792. |
spinal muscular atrophy (sma) is caused by defects in the survival motor neuron 1 (smn1) gene that encodes survival motor neuron (smn) protein. |
2016-08-08 |
2023-08-13 |
mouse |
| Chunyi Zhou, Zhihua Feng, Chien-Ping K. Defects in Motoneuron-Astrocyte Interactions in Spinal Muscular Atrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 36. issue 8. 2016-06-30. PMID:26911699. |
spinal muscular atrophy (sma) is a motoneuron disease caused by loss or mutation in survival of motor neuron 1 (smn1) gene. |
2016-06-30 |
2023-08-13 |
mouse |
| b' Milo\\xc5\\xa1 Brku\\xc5\\xa1anin, Ana Kosa\\xc4\\x87, Vladimir Jovanovi\\xc4\\x87, Jovan Pe\\xc5\\xa1ovi\\xc4\\x87, Goran Braju\\xc5\\xa1kovi\\xc4\\x87, Nikola Dimitrijevi\\xc4\\x87, Slobodanka Todorovi\\xc4\\x87, Stanka Romac, Vedrana Mili\\xc4\\x87 Ra\\xc5\\xa1i\\xc4\\x87, Du\\xc5\\xa1anka Savi\\xc4\\x87-Pavi\\xc4\\x87evi\\xc4\\x8. Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients. Journal of human genetics. vol 60. issue 11. 2016-06-23. PMID:26311540.' |
spinal muscular atrophy (sma) is caused by functional loss of the survival of motor neuron 1 (smn1) gene. |
2016-06-23 |
2023-08-13 |
Not clear |
| Christian Czech, Wakana Tang, Teodorica Bugawan, Calvin Mano, Carsten Horn, Victor Alejandro Iglesias, Stefanie Fröhner, Phillip G Zaworski, Sergey Paushkin, Karen Chen, Thomas Kreme. Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls. PloS one. vol 10. issue 10. 2016-06-07. PMID:26468953. |
spinal muscular atrophy is caused by a functional deletion of smn1 on chromosome 5, which leads to a progressive loss of motor function in affected patients. |
2016-06-07 |
2023-08-13 |
human |
| Lyndsay M Murray, Ariane Beauvais, Sabrina Gibeault, Natalie L Courtney, Rashmi Kothar. Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy. Acta neuropathologica communications. vol 3. 2016-05-27. PMID:26374403. |
spinal muscular atrophy is a childhood motor neuron disease caused by mutations or deletions in the smn1 gene. |
2016-05-27 |
2023-08-13 |
mouse |
| María G Boza-Morán, Rebeca Martínez-Hernández, Sara Bernal, Klaus Wanisch, Eva Also-Rallo, Anita Le Heron, Laura Alías, Cécile Denis, Mathilde Girard, Jiing-Kuan Yee, Eduardo F Tizzano, Rafael J Yáñez-Muño. Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons. Scientific reports. vol 5. 2016-05-16. PMID:26114395. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1), leading to degeneration of alpha motor neurons (mns) but also affecting other cell types. |
2016-05-16 |
2023-08-13 |
human |
| Vicki L McGovern, Aurélie Massoni-Laporte, Xueyong Wang, Thanh T Le, Hao T Le, Christine E Beattie, Mark M Rich, Arthur H M Burghe. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse. PloS one. vol 10. issue 7. 2016-05-10. PMID:26134627. |
spinal muscular atrophy is caused by loss of the smn1 gene and retention of smn2. |
2016-05-10 |
2023-08-13 |
mouse |
| Hansjörg Rindt, Zhihua Feng, Chiara Mazzasette, Jacqueline J Glascock, David Valdivia, Noah Pyles, Thomas O Crawford, Kathryn J Swoboda, Teresa N Patitucci, Allison D Ebert, Charlotte J Sumner, Chien-Ping Ko, Christian L Lorso. Astrocytes influence the severity of spinal muscular atrophy. Human molecular genetics. vol 24. issue 14. 2016-04-28. PMID:25911676. |
systemically low levels of survival motor neuron-1 (smn1) protein cause spinal muscular atrophy (sma). |
2016-04-28 |
2023-08-13 |
mouse |
| Jessica L Larson, Ari J Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee M Silve. Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. BMC medical genetics. vol 16. 2016-04-25. PMID:26510457. |
spinal muscular atrophy (sma) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, smn1. |
2016-04-25 |
2023-08-13 |
human |
| Jean Giacomotto, Silke Rinkwitz, Thomas S Becke. Effective heritable gene knockdown in zebrafish using synthetic microRNAs. Nature communications. vol 6. 2016-03-23. PMID:26051838. |
using this approach, we reproduce spinal muscular atrophy (sma) in zebrafish by targeting the smn1 gene. |
2016-03-23 |
2023-08-13 |
human |
| Justin G Boyer, Marc-Olivier Deguise, Lyndsay M Murray, Armin Yazdani, Yves De Repentigny, Céline Boudreau-Larivière, Rashmi Kothar. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy. Human molecular genetics. vol 23. issue 16. 2016-03-22. PMID:24691550. |
mutations in the survival motor neuron (smn1) gene lead to the neuromuscular disease spinal muscular atrophy (sma). |
2016-03-22 |
2023-08-13 |
mouse |
| Nozomu Kato, Nihayatus Sa'Adah, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Hideyuki Sato, Ahmad Hamim Sadewa, Indwiani Astuti, Sofia Mubarika Haryana, Toshio Saito, Kayoko Saito, Noriyuki Nishimura, Hisahide Nishio, Atsuko Takeuch. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test. The Kobe journal of medical sciences. vol 60. issue 4. 2016-03-17. PMID:25791416. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by mutations in smn1. |
2016-03-17 |
2023-08-13 |
Not clear |
| Nur Imma Fatimah Harahap, Atsuko Takeuchi, Surini Yusoff, Koji Tominaga, Takeshi Okinaga, Yukihiro Kitai, Toru Takarada, Yuji Kubo, Kayoko Saito, Nihayatus Sa'adah, Dian Kesumapramudya Nurputra, Noriyuki Nishimura, Toshio Saito, Hisahide Nishi. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA. Brain & development. vol 37. issue 7. 2016-03-10. PMID:25459970. |
more than 90% of spinal muscular atrophy (sma) patients show homozygous deletion of smn1 (survival motor neuron 1). |
2016-03-10 |
2023-08-13 |
Not clear |
| Yuji Kubo, Hisahide Nishio, Kayoko Sait. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing. Journal of human genetics. vol 60. issue 5. 2016-03-01. PMID:25716911. |
a new method for smn1 and hybrid smn gene analysis in spinal muscular atrophy using long-range pcr followed by sequencing. |
2016-03-01 |
2023-08-13 |
Not clear |
| Hiroyuki Yamada, Yoshinobu Nishida, Toshiro Maihara, Nihayatus Sa'adah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Noriyuki Nishimura, Toshio Saito, Yuji Kubo, Kayoko Saito, Hisahide Nishi. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity. Pediatric neurology. vol 52. issue 6. 2016-02-25. PMID:25838041. |
spinal muscular atrophy is caused by survival motor neuron gene smn1 mutations. |
2016-02-25 |
2023-08-13 |
Not clear |
| Mohammad R Abbaszadegan, Fatemeh Keify, Farah Ashrafzadeh, Moein Farshchian, Farhad Khadivi-Zand, Mohammad Naser Teymoorzadeh, Faezeh Mojahedi, Reza Ebrahimzadeh, Mitra Ahadia. Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. Archives of Iranian medicine. vol 14. issue 3. 2016-02-23. PMID:21529108. |
autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of smn1 gene in approximately 94% of sma patients. |
2016-02-23 |
2023-08-12 |
Not clear |
| Danny Mammo, Yoshihiro Yonekawa, Benjamin J Thomas, Ankoor R Shah, Ashkan M Abbey, Michael T Trese, Kimberly A Drenser, Antonio Capon. Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. European journal of ophthalmology. vol 25. issue 6. 2016-02-18. PMID:26109022. |
he was subsequently diagnosed with spinal muscular atrophy with smn1 deletion. |
2016-02-18 |
2023-08-13 |
Not clear |