Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment von Rilstone, Jennifer J, Alkhater, Reem A, Minassian, Berge A

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Neuronal ceroid lipofuscinoses von Nita, Dragos A., Mole, Sara E., Minassian, Berge A.

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Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome von Niibori, Yosuke, Lee, Shiron J, Minassian, Berge A, Hampson, David R

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Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan von Sullivan, Mitchell A, Nitschke, Silvia, Steup, Martin, Minassian, Berge A, Nitschke, Felix

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood von Mercimek‐Mahmutoglu, Saadet, Patel, Jaina, Cordeiro, Dawn, Hewson, Stacy, Callen, David, Donner, Elizabeth J., Hahn, Cecil D., Kannu, Peter, Kobayashi, Jeff, Minassian, Berge A., Moharir, Mahendranath, Siriwardena, Komudi, Weiss, Shelly K., Weksberg, Rosanna, Snead, O. Carter

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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism von Wu, Jun, Kakhlon, Or, Weil, Miguel, Lossos, Alexander, Minassian, Berge A

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Lafora disease in miniature Wirehaired Dachshunds von Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A, Rusbridge, Clare

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Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease von Israelian, Lori, Nitschke, Silvia, Wang, Peixiang, Zhao, Xiaochu, Perri, Ami M., Lee, Jennifer P.Y., Verhalen, Brandy, Nitschke, Felix, Minassian, Berge A.

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing von Monlong, Jean, Girard, Simon L, Meloche, Caroline, Cadieux-Dion, Maxime, Andrade, Danielle M, Lafreniere, Ron G, Gravel, Micheline, Spiegelman, Dan, Dionne-Laporte, Alexandre, Boelman, Cyrus, Hamdan, Fadi F, Michaud, Jacques L, Rouleau, Guy, Minassian, Berge A, Bourque, Guillaume, Cossette, Patrick

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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A von Han, Chanshuai, Alkhater, Reem, Froukh, Tawfiq, Minassian, Arakel G., Galati, Melissa, Liu, Rui Han, Fotouhi, Maryam, Sommerfeld, Julia, Alfrook, Ayman J., Marshall, Christian, Walker, Susan, Bauer, Peter, Scherer, Stephen W., Riess, Olaf, Buchert, Rebecca, Minassian, Berge A., McPherson, Peter S.

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From Genetic Testing to Precision Medicine in Epilepsy von Striano, Pasquale, Minassian, Berge A.

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Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy von Mitra, Sharmistha, Chen, Baozhi, Wang, Peixiang, Chown, Erin E, Dear, Mathew, Guisso, Dikran R, Mariam, Ummay, Wu, Jun, Gumusgoz, Emrah, Minassian, Berge A

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The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter von Siintola, Eija, Topcu, Meral, Aula, Nina, Lohi, Hannes, Minassian, Berge A., Paterson, Andrew D., Liu, Xiao-Qing, Wilson, Callum, Lahtinen, Ulla, Anttonen, Anna-Kaisa, Lehesjoki, Anna-Elina

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Inhibiting glycogen synthesis prevents lafora disease in a mouse model von Pederson, Bartholomew A., Turnbull, Julie, Epp, Jonathan R., Weaver, Staci A., Zhao, Xiaochu, Pencea, Nela, Roach, Peter J., Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

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Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases von Sullivan, Mitchell A., Nitschke, Silvia, Skwara, Evan P., Wang, Peixiang, Zhao, Xiaochu, Pan, Xiao S., Chown, Erin E., Wang, Travis, Perri, Ami M., Lee, Jennifer P.Y., Vilaplana, Francisco, Minassian, Berge A., Nitschke, Felix

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PTG protein depletion rescues malin-deficient Lafora disease in mouse von Turnbull, Julie, Epp, Jonathan R., Goldsmith, Danielle, Zhao, Xiaochu, Pencea, Nela, Wang, Peixiang, Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.

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Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease von Nitschke, Felix, Wang, Peixiang, Schmieder, Peter, Girard, Jean-Marie, Awrey, Donald E., Wang, Tony, Israelian, Johan, Zhao, XiaoChu, Turnbull, Julie, Heydenreich, Matthias, Kleinpeter, Erich, Steup, Martin, Minassian, Berge A.

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Transition from glycogen to starch metabolism in Archaeplastida von Cenci, Ugo, Nitschke, Felix, Steup, Martin, Minassian, Berge A., Colleoni, Christophe, Ball, Steven G.

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PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease von Turnbull, Julie, DePaoli-Roach, Anna A, Zhao, Xiaochu, Cortez, Miguel A, Pencea, Nela, Tiberia, Erica, Piliguian, Mark, Roach, Peter J, Wang, Peixiang, Ackerley, Cameron A, Minassian, Berge A

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Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism von Kakhlon, Or, Vaknin, Hilla, Mishra, Kumudesh, D’Souza, Jeevitha, Marisat, Monzer, Sprecher, Uri, Wald‐Altman, Shane, Dukhovny, Anna, Raviv, Yuval, Da’adoosh, Benny, Engel, Hamutal, Benhamron, Sandrine, Nitzan, Keren, Sweetat, Sahar, Permyakova, Anna, Mordechai, Anat, Akman, Hasan Orhan, Rosenmann, Hanna, Lossos, Alexander, Tam, Joseph, Minassian, Berge A., Weil, Miguel

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