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2021
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten 
ORCID: 0000-0002-7384-9182, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa ORCID: 0000-0003-4453-017X, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G.
(2021).
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018).
Am. J. Hum. Genet., 108 (12).
S. 2385 - 2386.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2019
Schulz, Herbert, Ruppert, Ann-Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, Vari, Maria S., Balagura, Ganna ORCID: 0000-0003-0212-8318, Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Blanche, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Moller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J. and Sander, Thomas
(2019).
No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy.
Epilepsia, 60 (5).
S. E31 - 6.
HOBOKEN:
WILEY.
ISSN 1528-1167
2018
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Pisciotta, Livia, De Grandis, Elisa, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin and Gleeson, Joseph G.
(2018).
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am. J. Hum. Genet., 103 (3).
S. 431 - 440.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2014
Vanni, Nicola, Fruscione, Floriana, Ferlazzo, Edoardo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Traverso, Monica, Sander, Thomas, Falace, Antonio ORCID: 0000-0001-5336-0251, Gazzerro, Elisabetta, Bramanti, Placido, Bielawski, Jacek, Fassio, Anna, Minetti, Carlo ORCID: 0000-0002-0640-1804, Genton, Pierre and Zara, Federico ORCID: 0000-0001-9744-5222
(2014).
Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy.
Ann. Neurol., 76 (2).
S. 206 - 213.
HOBOKEN:
WILEY.
ISSN 1531-8249