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

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Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance by Ramona C. Nicolescu, Sara Al-Khawaga, Berge A. Minassian, Khalid Hussain

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Correction to: Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom by Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A. Minassian

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Genome annotation for clinical genomic diagnostics: strengths and weaknesses by Charles A. Steward, Alasdair P. J. Parker, Berge A. Minassian, Sanjay M. Sisodiya, Adam Frankish, Jennifer Harrow

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

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Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom by Saija Ahonen, Ian Seath, Clare Rusbridge, Susan Holt, Gill Key, Travis Wang, Peixiang Wang, Berge A. Minassian

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Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12 by Marjolein H. Willemsen, Himanshu Goel, Judith S. Verhoeven, Hilde M. H. Braakman, Nicole deLeeuw, Alison Freeth, Berge A. Minassian

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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease p... by Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R. Nettesheim, Hamza Dahshi, Souad Messahel, Berge A. Minassian, Benjamin M. Greenberg

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

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Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies by Kimberly Goodspeed, Rachel M. Bailey, Rachel M. Bailey, Suyash Prasad, Chanchal Sadhu, Jessica A. Cardenas, Mary Holmay, Deborah A. Bilder, Berge A. Minassian

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Assessment of burden and segregation profiles of CNVs in patients with epilepsy by Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, Jacques L. Michaud, Berge A. Minassian, Patrick Cossette, Simon L. Girard

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Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. by Marija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, Aaron Y L Cheung, Huda Mahmood, James Ellis, Peter J Gianakopoulos, Berge A Minassian, John B Vincent

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

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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease by Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, Xiaochu Zhao, Erin E Chown, Ami M Perri, Lori Israelian, Lucia Juana‐López, Paola Bovolenta, Santiago Rodríguez de Córdoba, Martin Steup, Berge A Minassian

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Retinal alterations in patients with Lafora disease by Heather Heitkotter, Rachel E. Linderman, Jenna A. Cava, Erica N. Woertz, Rebecca R. Mastey, Phyllis Summerfelt, Toco Y. Chui, Richard B. Rosen, Emily J. Patterson, Ajoy Vincent, Joseph Carroll, Berge A. Minassian

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

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Genotypes and phenotypes of patients with Lafora disease living in Germany by David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker

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LGI2 truncation causes a remitting focal epilepsy in dogs. by Eija H Seppälä, Tarja S Jokinen, Masaki Fukata, Yuko Fukata, Matthew T Webster, Elinor K Karlsson, Sami K Kilpinen, Frank Steffen, Elisabeth Dietschi, Tosso Leeb, Ranja Eklund, Xiaochu Zhao, Jennifer J Rilstone, Kerstin Lindblad-Toh, Berge A Minassian, Hannes Lohi

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GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice by Rahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, Yoshiko Nakagawa, Tetsushi Sakuma, Felix Nitschke, Minako Nakamura, Koji Sato, Kaori Nakahata, Chihiro Yokoyama, Charlotte R. Marchioni, Thanutchaporn Kumrungsee, Takahiko Shimizu, Yusuke Sotomaru, Toru Takeo, Naomi Nakagata, Takashi Izumi, Shinji Miura, Berge A. Minassian, Takashi Yamamoto, Masanobu Wada, Noriyuki Yanaka

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

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