Skip to main content
Have a personal or library account? Click to login
De Novo Mutations in Patients with Ataxic CP Cover

De Novo Mutations in Patients with Ataxic CP

By:  and    
Open Access
|Sep 2015

References

  1. Parolin Schnekenberg R Perkins EM Miller JW Davies WI D'Adamo MC Pessia M De novo point mutations in patients diagnosed with ataxic cerebral palsy Brain 2015 138 Pt 7 1817 32 10.1093/brain/awv117 25981959
  2. de Ligt J Veltman JA Vissers LE Point mutations as a source of de novo genetic disease Curr Opin Genet Dev 2013 Jun 23 3 257 263 10.1016/j.gde.2013.01.007 23453690
  3. de Ligt J Willemsen MH van Bon BW Kleefstra T Yntema HG Kroes T Diagnostic exome sequencing in persons with severe intellectual disability N Engl J Med 2012 Nov 367 20 1921 1929 10.1056/NEJMoa1206524 23033978
  4. Hughes I Newton R Genetic aspects of cerebral palsy Dev Med Child Neurol 1992 Jan 34 1 80 86 10.1111/j.1469-8749.1992.tb08568.x 1544520
  5. Yang Y Muzny DM Xia F Niu Z Person R Ding Y Molecular findings among patients referred for clinical whole-exome sequencing JAMA 2014 Nov 312 18 1870 1879 10.1001/jama.2014.14601 25326635
  6. Lee RW Poretti A Cohen JS Levey E Gwynn H Johnston MV A diagnostic approach for cerebral palsy in the genomic era Neuromolecular Med 2014 Dec 16 4 821 844 10.1007/s12017-014-8331-9 25280894
Language: English
Page range: 62 - 62
Submitted on: Aug 10, 2015
Accepted on: Aug 22, 2015
Published on: Sep 7, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2015 Sonika Agarwal, Lisa Emrick, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.