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Michael S Hildebrand

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Credit Name
Michael S Hildebrand
Full Name
Hildebrand, Michael S
 
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ORCID
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Publications

Results 81-91 of 91 (Search time: 0.011 seconds).

Publication YearTitleAuthor(s)
819-Aug-2016Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Berkovic, Samuel F ; Staropoli, John F; Carpenter, Stirling; Oliver, Karen L; Kmoch, Stanislav; Anderson, Glenn W; Damiano, John A; Hildebrand, Michael S ; Sims, Katherine B; Cotman, Susan L; Bahlo, Melanie; Smith, Katherine R; Cadieux-Dion, Maxime; Cossette, Patrick; Jedličková, Ivana; Přistoupilová, Anna; Mole, Sara E
824-Aug-2016Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsyHildebrand, Michael S ; Griffin, Nicole G; Damiano, John A; Cops, Elisa J; Burgess, Rosemary; Ozturk, Ezgi; Jones, Nigel C; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Sadleir, Lynette G; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Allen, Andrew S; Goldstein, David B; Kerrigan, John F; Berkovic, Samuel F ; Heinzen, Erin L
839-Dec-2015Loss of synaptic Zn2+ transporter function increases risk of febrile seizuresHildebrand, Michael S ; Phillips, A Marie; Mullen, Saul A ; Adlard, Paul A; Hardies, Katia; Damiano, John A; Wimmer, Verena; Bellows, Susannah T; McMahon, Jacinta M; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E ; Petrou, Steven; Berkovic, Samuel F ; Reid, Christopher A
84Nov-2015Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyDamiano, John A; Mullen, Saul A ; Hildebrand, Michael S ; Bellows, Susannah T; Lawrence, Kate M; Arsov, Todor; Dibbens, Leanne M; Major, Heather; Dahl, Hans-Henrik M; Mefford, Heather C; Darbro, Benjamin W; Scheffer, Ingrid E ; Berkovic, Samuel F 
857-May-2015Mutation of the Nuclear Lamin Gene LMNB2 in Progressive Myoclonus Epilepsy with Early Ataxia.Damiano, John Anthony; Afawi, Zaid; Bahlo, Melanie; Mauermann, Monika; Misk, Adel; Arsov, Todor; Oliver, Karen L; Dahl, Hans-Henrik M; Shearer, A Eliot; Smith, Richard J H; Hall, Nathan E; Mahmood, Khalid; Leventer, Richard J; Scheffer, Ingrid E ; Muona, Mikko; Lehesjoki, Anna-Elina; Korczyn, Amos D; Hermann, Harald; Berkovic, Samuel F ; Hildebrand, Michael S 
8627-Mar-2015HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.Azaiez, Hela; Decker, Amanda R; Booth, Kevin T; Simpson, Allen C; Shearer, A Eliot; Huygen, Patrick L M; Bu, Fengxiao; Hildebrand, Michael S ; Ranum, Paul T; Shibata, Seiji B; Turner, Ann; Zhang, Yuzhou; Kimberling, William J; Cornell, Robert A; Smith, Richard J H
8717-Nov-2014A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Muona, Mikko; Berkovic, Samuel F ; Dibbens, Leanne M; Oliver, Karen L; Maljevic, Snezana; Bayly, Marta A; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E; Hildebrand, Michael S ; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E ; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D; Ozkara, Cigdem; Andrade, Danielle M; Engelsen, Bernt A; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E; Daly, Mark J; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina
8816-Jun-201416p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S ; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather C; Scheffer, Ingrid E ; Berkovic, Samuel F ; Beckmann, Jacques S; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A
8931-Jan-2014Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Oliver, Karen L; Dahl, Hans-Henrik M; Scheffer, Ingrid E ; Berkovic, Samuel F 
9010-Jan-2014Does variation in NIPA2 contribute to genetic generalized epilepsy?Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F 
916-Mar-2013Recent advances in the molecular genetics of epilepsy.Hildebrand, Michael S ; Dahl, Hans-Henrik M; Damiano, John Anthony; Smith, Richard J H; Scheffer, Ingrid E ; Berkovic, Samuel F