Advances and Barriers in Understanding Presynaptic N-Methyl-D-Aspartate Receptors in Spinal Pain Processing by Annemarie Dedek, Annemarie Dedek, Michael E. Hildebrand, Michael E. Hildebrand

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Conserved contributions of NMDA receptor subtypes to synaptic responses in lamina II spinal neurons across early postnatal development by Hadir Mahmoud, Newton Martin, Michael E. Hildebrand

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Ion Channels and Electrophysiological Properties of Astrocytes: Implications for Emergent Stimulation Technologies by Jessica McNeill, Christopher Rudyk, Michael E. Hildebrand, Natalina Salmaso

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KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. by Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

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South-to-south mentoring as a vehicle for implementing sustainable health security in Africa by Stephanie Marie Norlock, Patrick W. Okanya, Anastasia Trataris, Michael E. Hildebrand, Jean de Dieu Baziki, Imane Belkourati, Maureen Ellis

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Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma by Timothy E. Green, Atsushi Fujita, Navid Ghaderi, Erin L. Heinzen, Naomichi Matsumoto, Karl Martin Klein, Samuel F. Berkovic, Michael S. Hildebrand

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Cannabinoid CB1 Receptor Expression and Localization in the Dorsal Horn of Male and Female Rat and Human Spinal Cord by Jessica Parnell, Newton Martin, Annemarie Dedek, Christopher Rudyk, Jeffrey Landrigan, Justin Bellavance, Simon VanDerLoo, Eve C. Tsai, Michael E. Hildebrand

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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. by Yoko Nakano, Israt Jahan, Gregory Bonde, Xingshen Sun, Michael S Hildebrand, John F Engelhardt, Richard J H Smith, Robert A Cornell, Bernd Fritzsch, Botond Bánfi

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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report by Denis M. Nyaga, Michael S. Hildebrand, Guillem deValles‐Ibáñez, Ngaire F. Keenan, Zimeng Ye, Christy W. LaFlamme, Heather C. Mefford, Mark F. Bennett, Melanie Bahlo, Lynette G. Sadleir

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Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype by Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir

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Genetic factors and shared environment contribute equally to objective singing ability by Daniel Yeom, Yi Ting Tan, Nick Haslam, Miriam A. Mosing, Valerie M.Z. Yap, Trisnasari Fraser, Michael S. Hildebrand, Sam F. Berkovic, Gary E. McPherson, Isabelle Peretz, Sarah J. Wilson

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Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma by Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic

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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. by Hela Azaiez, Amanda R Decker, Kevin T Booth, Allen C Simpson, A Eliot Shearer, Patrick L M Huygen, Fengxiao Bu, Michael S Hildebrand, Paul T Ranum, Seiji B Shibata, Ann Turner, Yuzhou Zhang, William J Kimberling, Robert A Cornell, Richard J H Smith

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Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing by Jamie A. Lopez, Jamie A. Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S. Hildebrand, Hedieh Akhlaghi, Phillip K. Darcy, Phillip K. Darcy, Michael H. Kershaw, Michael H. Kershaw, Natasha J. Brown, Andrew Grigg, Joseph A. Trapani, Joseph A. Trapani, Ilia Voskoboinik, Ilia Voskoboinik

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies by Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche

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Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania by Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic

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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless by Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic

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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction by Joanne M. Hildebrand, Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison J. Cox, Sanae Miyake, Emma J. Petrie, Michael A. Silk, Zhixiu Li, Maria C. Tanzer, Gabriela Brumatti, Samuel N. Young, Cathrine Hall, Sarah E. Garnish, Jason Corbin, Michael D. Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C. Josefsson, Kristin Rigbye, Holly Anderton, James A. Rickard, Anne Tripaydonis, Julie Sheridan, Thomas S. Scerri, Victoria E. Jackson, Peter E. Czabotar, Jian-Guo Zhang, Leila Varghese, Cody C. Allison, Marc Pellegrini, Gillian M. Tannahill, Esme C. Hatchell, Tracy A. Willson, Dina Stockwell, Carolyn A. de Graaf, Janelle Collinge, Adrienne Hilton, Natasha Silke, Sukhdeep K. Spall, Diep Chau, Vicki Athanasopoulos, Donald Metcalf, Ronald M. Laxer, Alexander G. Bassuk, Benjamin W. Darbro, Maria A. Fiatarone Singh, Nicole Vlahovich, David Hughes, Maria Kozlovskaia, David B. Ascher, Klaus Warnatz, Nils Venhoff, Jens Thiel, Christine Biben, Stefan Blum, John Reveille, Michael S. Hildebrand, Carola G. Vinuesa, Pamela McCombe, Matthew A. Brown, Benjamin T. Kile, Catriona McLean, Melanie Bahlo, Seth L. Masters, Hiroyasu Nakano, Polly J. Ferguson, James M. Murphy, Warren S. Alexander, John Silke

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