Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

@article{GonzlezPrez2012NovelMI,
  title={Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.},
  author={Paloma Gonz{\'a}lez-P{\'e}rez and Elizabeth T. Cirulli and Vivian Drory and Ron Dabby and P. F. Nisipeanu and Ralph L Carasso and Menachem Sadeh and Andy Fox and Barry W Festoff and Peter C. Sapp and Diane M. McKenna-Yasek and David K. Goldstein and R. H. Brown and Sergiu C. Blumen},
  journal={Neurology},
  year={2012},
  volume={79 22},
  pages={2201-8}
}
OBJECTIVE To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing. METHODS Genetic linkage analysis was performed in this family using Illumina single nucleotide polymorphism chips. Whole exome sequencing was then undertaken on DNA samples from 2 affected family members using an Illumina 2000 HiSeq platform in pursuit of potentially pathogenic genetic variants that… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 6 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 15 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 34 references

A hexanucleotide repeat expansion in c 9 orf 72 is the cause of chromosome 9 p 21linked ALSFTD

  • AE Renton, E Maujonie, A Waite
  • Neuron
  • 2011

Expanded GGGGCC hexanucleotide repeat in noncoding region of c 9 orf 72 causes chromosome 9 plinked FTD and ALS

  • M DeJesus-Hernández, IR Mackenzie, BF Boeve
  • Neuron
  • 2011

Similar Papers

Loading similar papers…