Literature DB >> 24284364

PLS3 expression and SMA phenotype: a commentary on correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.

Hisahide Nishio1.   

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Year:  2013        PMID： 24284364     DOI： 10.1038/jhg.2013.124

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  8 in total

1.  Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.

Authors:  Cao Yanyan; Qu Yujin; Bai Jinli; Jin Yuwei; Wang Hong; Song Fang
Journal:  J Hum Genet       Date:  2013-10-31       Impact factor: 3.172

2.  Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

Authors:  George Stratigopoulos; Patricia Lanzano; Liyong Deng; Jiancheng Guo; Petra Kaufmann; Basil Darras; Richard Finkel; Rabi Tawil; Michael P McDermott; William Martens; Darryl C Devivo; Wendy K Chung
Journal:  Arch Neurol       Date:  2010-10

3.  Survival motor neuron affects plastin 3 protein levels leading to motor defects.

Authors:  Le T Hao; Marc Wolman; Michael Granato; Christine E Beattie
Journal:  J Neurosci       Date:  2012-04-11       Impact factor: 6.167

4.  SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

Authors:  Mélissa Bowerman; Carrie L Anderson; Ariane Beauvais; Pietro Pilo Boyl; Walter Witke; Rashmi Kothary
Journal:  Mol Cell Neurosci       Date:  2009-06-01       Impact factor: 4.314

Review 5.  Spinal muscular atrophy: from gene discovery to clinical trials.

Authors:  Dian K Nurputra; Poh San Lai; Nur Imma F Harahap; Satoru Morikawa; Tomoto Yamamoto; Noriyuki Nishimura; Yuji Kubo; Atsuko Takeuchi; Toshio Saito; Yasuhiro Takeshima; Yumi Tohyama; Stacey K H Tay; Poh Sim Low; Kayoko Saito; Hisahide Nishio
Journal:  Ann Hum Genet       Date:  2013-07-23       Impact factor: 1.670

6.  Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

Authors:  Thomas W Prior; Kathryn J Swoboda; H Denman Scott; Ashley Q Hejmanowski
Journal:  Am J Med Genet A       Date:  2004-10-15       Impact factor: 2.802

7.  Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Authors:  Gabriela E Oprea; Sandra Kröber; Michelle L McWhorter; Wilfried Rossoll; Stefan Müller; Michael Krawczak; Gary J Bassell; Christine E Beattie; Brunhilde Wirth
Journal:  Science       Date:  2008-04-25       Impact factor: 47.728

8.  Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.

Authors:  Bastian Ackermann; Sandra Kröber; Laura Torres-Benito; Anke Borgmann; Miriam Peters; Seyyed Mohsen Hosseini Barkooie; Rocio Tejero; Miriam Jakubik; Julia Schreml; Janine Milbradt; Thomas F Wunderlich; Markus Riessland; Lucia Tabares; Brunhilde Wirth
Journal:  Hum Mol Genet       Date:  2012-12-20       Impact factor: 6.150
  8 in total
  1 in total

1.  The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.

Authors:  Yinhong Zhang; Jing He; Yunqian Zhang; Li Li; Xinhua Tang; Lei Wang; Jingjing Guo; Chanchan Jin; Sean Tighe; Yuan Zhang; Yingting Zhu; Baosheng Zhu
Journal:  Medicine (Baltimore)       Date:  2020-01       Impact factor: 1.889
  1 in total

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