Publications by authors named "Pia Zacher"

6Publications

Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia 2019 06 11;60(6):e63-e66. Epub 2019 May 11.

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

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

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.

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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.

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

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http://www.nature.com/articles/s41436-018-0060-2
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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.

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