Pia Zacher

Pia Zacher

UNVERIFIED PROFILE

Are you Pia Zacher?   Register this Author

Register author
Pia Zacher

Pia Zacher

Publications by authors named "Pia Zacher"

Are you Pia Zacher?   Register this Author

5Publications

185Reads

7Profile Views

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia 2019 Jun 11;60(6):e63-e66. Epub 2019 May 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.15187DOI Listing
June 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0060-2
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

J Neurol Sci 2014 Dec 16;347(1-2):372-4. Epub 2014 Oct 16.

Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2014.10.018DOI Listing
December 2014