Shereen G Ghosh

Shereen G Ghosh

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Shereen G Ghosh

Shereen G Ghosh

Publications by authors named "Shereen G Ghosh"

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Authors:
Shereen G Ghosh Kerstin Becker He Huang Tracy Dixon-Salazar Guoliang Chai Vincenzo Salpietro Lihadh Al-Gazali Quinten Waisfisz Haicui Wang Keith K Vaux Valentina Stanley Andreea Manole Ugur Akpulat Marjan M Weiss Stephanie Efthymiou Michael G Hanna Carlo Minetti Pasquale Striano Livia Pisciotta Elisa De Grandis Janine Altmüller Peter Nürnberg Holger Thiele Uluc Yis Tuncay Derya Okur Ayse Ipek Polat Nafise Amiri Mohammad Doosti Ehsan Ghayoor Karimani Mehran B Toosi Gabriel Haddad Mert Karakaya Brunhilde Wirth Johanna M van Hagen Nicole I Wolf Reza Maroofian Henry Houlden Sebahattin Cirak Joseph G Gleeson

Am J Hum Genet 2018 11;103(5):826

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http://dx.doi.org/10.1016/j.ajhg.2018.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218605PMC
November 2018

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Authors:
Shereen G Ghosh Kerstin Becker He Huang Tracy Dixon-Salazar Guoliang Chai Vincenzo Salpietro Lihadh Al-Gazali Quinten Waisfisz Haicui Wang Keith K Vaux Valentina Stanley Andreea Manole Ugur Akpulat Marjan M Weiss Stephanie Efthymiou Michael G Hanna Carlo Minetti Pasquale Striano Livia Pisciotta Elisa De Grandis Janine Altmüller Peter Nürnberg Holger Thiele Uluc Yis Tuncay Derya Okur Ayse Ipek Polat Nafise Amiri Mohammad Doosti Ehsan Ghayoor Karimani Mehran B Toosi Gabriel Haddad Mert Karakaya Brunhilde Wirth Johanna M van Hagen Nicole I Wolf Reza Maroofian Henry Houlden Sebahattin Cirak Joseph G Gleeson

Am J Hum Genet 2018 09 9;103(3):431-439. Epub 2018 Aug 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128219PMC
September 2018