Elena Perenthaler

Affiliations
  • Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Publications (8)

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta neuropathologica

Réseau de co-auteurs

Tahsin Stefan Barakat 6 collaborations
Anita Nikoncuk 4 collaborations
Soheil Yousefi 3 collaborations
Herma C van der Linde 3 collaborations
Tjakko J van Ham 3 collaborations
Kristina Lanko 2 collaborations
Maysoon Alsagob 2 collaborations
Rawan Almass 2 collaborations
Mazhor Aldosary 2 collaborations
Jill A Rosenfeld 2 collaborations
Ehsan Ghayoor Karimiani 2 collaborations
Dilek Colak 2 collaborations
Reza Maroofian 2 collaborations
Henry Houlden 2 collaborations
Aida M Bertoli-Avella 2 collaborations
Namik Kaya 2 collaborations
Marjon van Slegtenhorst 2 collaborations
Alice S Brooks 2 collaborations
Fabio Lauria 2 collaborations
Gabriella Viero 2 collaborations
Thijs C J Verheul 1 collaboration
Levi van Hijfte 1 collaboration
Eva Niggl 1 collaboration
Leslie E Sanderson 1 collaboration
Nada Al-Ahmadi 1 collaboration
Maryam Najafi 1 collaboration
Mohammad A Al-Muhaizea 1 collaboration
Hamad Alzaidan 1 collaboration
Hesham AlDhalaan 1 collaboration
Nikolas A Kühn 1 collaboration
Dinu Antony 1 collaboration
Tarek Mustafa Owaidah 1 collaboration
Salmo Raskin 1 collaboration
Romulo Mombach 1 collaboration
Najmeh Ahangari 1 collaboration
Najim Ameziane 1 collaboration
Arndt Rolfs 1 collaboration
Aljohara Alharbi 1 collaboration
Raghda M Sabbagh 1 collaboration
Khalid AlAhmadi 1 collaboration
Bashayer Alawam 1 collaboration
Hazem Ghebeh 1 collaboration
Aljouhra AlHargan 1 collaboration
Anoud A Albader 1 collaboration
Faisal S Binhumaid 1 collaboration
Ewa Goljan 1 collaboration
Dorota Monies 1 collaboration
Osama M Mustafa 1 collaboration
Albandary AlBakheet 1 collaboration
Banan Alyounes 1 collaboration
Faten Almutairi 1 collaboration
Ali Al-Odaib 1 collaboration
Durdane Bekar Aksoy 1 collaboration
A Nazli Basak 1 collaboration
Robin Palvadeau 1 collaboration
Daniah Trabzuni 1 collaboration
Brian F Meyer 1 collaboration
Bedri Karakas 1 collaboration
Futwan Al-Mohanna 1 collaboration
Stefan T Arold 1 collaboration
Miriam Schmidts 1 collaboration
Woutje M Berdowski 1 collaboration
Ivan Capo 1 collaboration
Paul van den Berg 1 collaboration
Edwin H Jacobs 1 collaboration
Darija Putar 1 collaboration
Mehrnaz Ghazvini 1 collaboration
Eleonora Aronica 1 collaboration
Wilfred F J van IJcken 1 collaboration
Walter G de Valk 1 collaboration
Lauren Brick 1 collaboration
Mariya Kozenko 1 collaboration
Jennefer N Kohler 1 collaboration
Jonathan A Bernstein 1 collaboration
Kristin G Monaghan 1 collaboration
Amber Begtrup 1 collaboration
Rebecca Torene 1 collaboration
Amna Al Futaisi 1 collaboration
Fathiya Al Murshedi 1 collaboration
Renjith Mani 1 collaboration
Faisal Al Azri 1 collaboration
Erik-Jan Kamsteeg 1 collaboration
Majid Mojarrad 1 collaboration
Atieh Eslahi 1 collaboration
Zaynab Khazaei 1 collaboration
Mohammad Doosti 1 collaboration
Jana Vandrovcova 1 collaboration
Faisal Zafar 1 collaboration
Nuzhat Rana 1 collaboration
Krishna K Kandaswamy 1 collaboration
Jozef Hertecant 1 collaboration
Peter Bauer 1 collaboration
Mohammed A AlMuhaizea 1 collaboration
Mustafa A Salih 1 collaboration
Laila Al-Quait 1 collaboration
Wafa Qubbaj 1 collaboration
Serdar Coskun 1 collaboration
Khaled O Alahmadi 1 collaboration
Muddathir H A Hamad 1 collaboration
Salem Alwadaee 1 collaboration
Khalid Awartani 1 collaboration
Anas M Dababo 1 collaboration
Futwan Almohanna 1 collaboration
Mohammadreza Dehghani 1 collaboration
Murat Gunel 1 collaboration
Gouri Rao Passi 1 collaboration
Huma Arshad Cheema 1 collaboration
Stephanie Efthymiou 1 collaboration
Kyle Retterer 1 collaboration
Ruizhi Deng 1 collaboration
Eva Medico Salsench 1 collaboration
Eskeatnaf Mulugeta 1 collaboration
Scott Barish 1 collaboration
Brittany C Michel 1 collaboration
Nazar Mashtalir 1 collaboration
Jennifer B Phillips 1 collaboration
Alfredo M Valencia 1 collaboration
Berrak Ugur 1 collaboration
Jeremy Wegner 1 collaboration
Tiana M Scott 1 collaboration
Brett Bostwick 1 collaboration
None None 1 collaboration
David R Murdock 1 collaboration
Hongzheng Dai 1 collaboration
Boris Keren 1 collaboration
Caroline Nava 1 collaboration
Cyril Mignot 1 collaboration
Jessica Douglas 1 collaboration
Lance Rodan 1 collaboration
Catherine Nowak 1 collaboration
Sian Ellard 1 collaboration
Karen Stals 1 collaboration
Sally Ann Lynch 1 collaboration
Marie Faoucher 1 collaboration
Gaetan Lesca 1 collaboration
Patrick Edery 1 collaboration
Kendra L Engleman 1 collaboration
Dihong Zhou 1 collaboration
Isabelle Thiffault 1 collaboration
John Herriges 1 collaboration
Jennifer Gass 1 collaboration
Raymond J Louie 1 collaboration
Elliot Stolerman 1 collaboration
Camerun Washington 1 collaboration
Francesco Vetrini 1 collaboration
Aiko Otsubo 1 collaboration
Victoria M Pratt 1 collaboration
Erin Conboy 1 collaboration
Kayla Treat 1 collaboration
Nora Shannon 1 collaboration
Jose Camacho 1 collaboration
Emma Wakeling 1 collaboration
Bo Yuan 1 collaboration
Chun-An Chen 1 collaboration
Monte Westerfield 1 collaboration
Michael Wangler 1 collaboration
Shinya Yamamoto 1 collaboration
Cigall Kadoch 1 collaboration
Daryl A Scott 1 collaboration
Hugo J Bellen 1 collaboration
Paola Bernabò 1 collaboration
Toma Tebaldi 1 collaboration
Federica Maniscalco 1 collaboration
Annalisa Rossi 1 collaboration
Deborah Donzel 1 collaboration
Massimiliano Clamer 1 collaboration
Marta Marchioretto 1 collaboration
Neža Omersa 1 collaboration
Julia Orri 1 collaboration
Mauro Dalla Serra 1 collaboration
Gregor Anderluh 1 collaboration
Alessandro Quattrone 1 collaboration
Alberto Inga 1 collaboration
Gaurav Sharma 1 collaboration
Martina Paganin 1 collaboration