Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jillian M. Cameron"'
Autor:
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Abstract Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore geno
Externí odkaz:
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand, Samuel F. Berkovic
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31d76c4b8fba158b9e6bd15e5c313861
https://doi.org/10.1111/epi.17616
https://doi.org/10.1111/epi.17616
Autor:
Cinzia Costa, Karen L. Oliver, Carmen Calvello, Jillian M. Cameron, Valentina Imperatore, Laura Tonelli, Davide Colavito, Silvana Franceschetti, Laura Canafoglia, Samuel F. Berkovic, Paolo Prontera
Publikováno v:
Epilepsia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae57b448b21bed088964d267bfca5b3
https://doi.org/10.1111/epi.17557
https://doi.org/10.1111/epi.17557
Autor:
Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650069807d3481a3152165d118ab744f
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
Autor:
Leanne M. Dibbens, Anna-Elina Lehesjoki, Roberto Michelucci, Aarno Palotie, Barbara Castellotti, Jillian M. Cameron, Amos D. Korczyn, Loretta Giuliano, Davide Uccellini, Alessandro Filla, Edith Said, Karen Oliver, Zaid Afawi, William C. Sessa, Hui Bein Chew, Silvana Franceschetti, Carlo Di Bonaventura, Eva Andermann, Anna Teresa Giallonardo, Angelo Labate, Samuel F. Berkovic, Betül Baykan, Kariona A. Grabińska, Carolina Courage, Patrizia Riguzzi, Melanie Bahlo, Antonio Gambardella, John A. Damiano, Laura Canafoglia, Tarja Joensuu, Pasquale Striano, Christopher B. Jackson, Mikko Muona, Christian Brandt, Chiara Criscuolo, Sara Kivity, Eon Joo Park, Ingrid E. Scheffer, Géza Berecki
Publikováno v:
Am J Hum Genet
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f932a416de210b04bfdbaee703d7f1d
https://pubmed.ncbi.nlm.nih.gov/33798445
https://pubmed.ncbi.nlm.nih.gov/33798445