Search Results - Matthew Zemel

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy by Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, Candace T. Myers, Heather C. Mefford, Aarno Palotie, Ingo Helbig, Jochen C. Meier, Peter De Jonghe, Sarah Weckhuysen, Günter Schwarz

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>

    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i> by Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy L. Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello‐Espinosa, Mark T. Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Cheng Yang, Stephen Malone, Yuehua Zhang, Heather C. Mefford, Ingrid E. Scheffer

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy by Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy L. Schneider, Leanne M. Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures by Gemma L. Carvill, Jacinta M. McMahon, Amy L. Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: