Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment
Rilstone, Jennifer J, Alkhater, Reem A, Minassian, Berge A
Published in The New England journal of medicine (07.02.2013)
Published in The New England journal of medicine (07.02.2013)
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Journal Article
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
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
Published in Epilepsia (Copenhagen) (01.05.2015)
Published in Epilepsia (Copenhagen) (01.05.2015)
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Journal Article
Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
Wu, Jun, Kakhlon, Or, Weil, Miguel, Lossos, Alexander, Minassian, Berge A
Published in EMBO molecular medicine (16.05.2024)
Published in EMBO molecular medicine (16.05.2024)
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Journal Article
Lafora disease in miniature Wirehaired Dachshunds
Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A, Rusbridge, Clare
Published in PloS one (02.08.2017)
Published in PloS one (02.08.2017)
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Journal Article
Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease
Israelian, Lori, Nitschke, Silvia, Wang, Peixiang, Zhao, Xiaochu, Perri, Ami M., Lee, Jennifer P.Y., Verhalen, Brandy, Nitschke, Felix, Minassian, Berge A.
Published in Journal of neurochemistry (01.06.2021)
Published in Journal of neurochemistry (01.06.2021)
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Journal Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing
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
Published in PLoS genetics (12.04.2018)
Published in PLoS genetics (12.04.2018)
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Journal Article
Inhibiting glycogen synthesis prevents lafora disease in a mouse model
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.
Published in Annals of neurology (01.08.2013)
Published in Annals of neurology (01.08.2013)
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Journal Article
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
Mitra, Sharmistha, Chen, Baozhi, Wang, Peixiang, Chown, Erin E, Dear, Mathew, Guisso, Dikran R, Mariam, Ummay, Wu, Jun, Gumusgoz, Emrah, Minassian, Berge A
Published in Disease models & mechanisms (01.01.2023)
Published in Disease models & mechanisms (01.01.2023)
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Journal Article
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases
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
Published in Cell reports (Cambridge) (30.04.2019)
Published in Cell reports (Cambridge) (30.04.2019)
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Journal Article
PTG protein depletion rescues malin-deficient Lafora disease in mouse
Turnbull, Julie, Epp, Jonathan R., Goldsmith, Danielle, Zhao, Xiaochu, Pencea, Nela, Wang, Peixiang, Frankland, Paul W., Ackerley, Cameron A., Minassian, Berge A.
Published in Annals of neurology (01.03.2014)
Published in Annals of neurology (01.03.2014)
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Journal Article
Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease
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.
Published in Cell metabolism (07.05.2013)
Published in Cell metabolism (07.05.2013)
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Journal Article
Transition from glycogen to starch metabolism in Archaeplastida
Cenci, Ugo, Nitschke, Felix, Steup, Martin, Minassian, Berge A., Colleoni, Christophe, Ball, Steven G.
Published in Trends in plant science (01.01.2014)
Published in Trends in plant science (01.01.2014)
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Journal Article
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
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
Published in EMBO molecular medicine (07.10.2021)
Published in EMBO molecular medicine (07.10.2021)
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Journal Article
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
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
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Journal Article
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
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.
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
Froese, D Sean, Michaeli, Amit, McCorvie, Thomas J, Krojer, Tobias, Sasi, Meitav, Melaev, Esther, Goldblum, Amiram, Zatsepin, Maria, Lossos, Alexander, Álvarez, Rafael, Escribá, Pablo V, Minassian, Berge A, von Delft, Frank, Kakhlon, Or, Yue, Wyatt W
Published in Human molecular genetics (15.10.2015)
Published in Human molecular genetics (15.10.2015)
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Journal Article
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Nitschke, Felix, Sullivan, Mitchell A, Wang, Peixiang, Zhao, Xiaochu, Chown, Erin E, Perri, Ami M, Israelian, Lori, Juana‐López, Lucia, Bovolenta, Paola, Rodríguez de Córdoba, Santiago, Steup, Martin, Minassian, Berge A
Published in EMBO molecular medicine (01.07.2017)
Published in EMBO molecular medicine (01.07.2017)
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