Search Results - "Minassian, Berge"

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

“…Epilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes and seizure types as…”
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Efficacy and tolerability of perampanel in ten patients with Lafora disease by Goldsmith, Danielle, Minassian, Berge A

“…Abstract Lafora disease (LD) is a fatal intractable adolescence-onset progressive myoclonus epilepsy. Recently, two single-case studies reported drastic…”
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Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan by Sullivan, Mitchell A, Nitschke, Silvia, Steup, Martin, Minassian, Berge A, Nitschke, Felix

“…Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy…”
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Lafora disease — from pathogenesis to treatment strategies by Nitschke, Felix, Ahonen, Saija J., Nitschke, Silvia, Mitra, Sharmistha, Minassian, Berge A.

“…Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death…”
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Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances by Zimmern, Vincent, Minassian, Berge

“…The progressive myoclonus epilepsies (PME) are a diverse group of disorders that feature both myoclonus and seizures that worsen gradually over a variable…”
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Brain Dopamine–Serotonin Vesicular Transport Disease and Its Treatment by Rilstone, Jennifer J, Alkhater, Reem A, Minassian, Berge A

“…Four siblings with gait dystonia and other neurologic deficits were found to have a mutation in SLC18A2, a gene encoding a transporter of serotonin and…”
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Neuronal ceroid lipofuscinoses by Nita, Dragos A., Mole, Sara E., Minassian, Berge A.

“…The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and…”
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Lafora disease in miniature Wirehaired Dachshunds by Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A, Rusbridge, Clare

“…Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The…”
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LUBAC: a new player in polyglucosan body disease by Aboujaoude, Andrew, Minassian, Berge, Mitra, Sharmistha

“…Altered protein ubiquitination is associated with the pathobiology of numerous diseases; however, its involvement in glycogen metabolism and associated…”
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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood by 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

“…Summary Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a…”
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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism by Wu, Jun, Kakhlon, Or, Weil, Miguel, Lossos, Alexander, Minassian, Berge A

“…In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model…”
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The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy by Orsini, Alessandro, Valetto, Angelo, Bertini, Veronica, Esposito, Mariagrazia, Carli, Niccolò, Minassian, Berge A., Bonuccelli, Alice, Peroni, Diego, Michelucci, Roberto, Striano, Pasquale

“…•The incidence of PMEs is growing more and more each passing day.•PMEs are one of the most serious epileptic syndromes.•Precision Medicine is the weapon to…”
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Global characterization of copy number variants in epilepsy patients from whole genome sequencing by 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

“…Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based…”
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Natural History of SURF1 Deficiency: A Retrospective Chart Review by Khan, Tuba Rashid, Leprince, Inka, Messahel, Souad, Minassian, Berge A., Kayani, Saima

“…This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes…”
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Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease by Ahonen, Saija, Nitschke, Silvia, Grossman, Tamar R, Kordasiewicz, Holly, Wang, Peixiang, Zhao, Xiaochu, Guisso, Dikran R, Kasiri, Sahba, Nitschke, Felix, Minassian, Berge A

“…Lafora disease is a fatal progressive myoclonus epilepsy. At root, it is due to constant acquisition of branches that are too long in a subgroup of glycogen…”
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A Review of Targeted Therapies for Monogenic Epilepsy Syndromes by Zimmern, Vincent, Minassian, Berge, Korff, Christian

“…Genetic sequencing technologies have led to an increase in the identification and characterization of monogenic epilepsy syndromes. This increase has, in turn,…”
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Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid by Nitschke, Silvia, Petković, Sara, Ahonen, Saija, Minassian, Berge A., Nitschke, Felix

“…The soluble α-polyglucan glycogen is a central metabolite enabling transient glucose storage to suit cellular energy needs. Glycogen storage diseases (GSDs)…”
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Lafora disease offers a unique window into neuronal glycogen metabolism by Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.

“…Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene…”
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Lafora disease by Turnbull, Julie, Tiberia, Erica, Striano, Pasquale, Genton, Pierre, Carpenter, Stirling, Ackerley, Cameron A., Minassian, Berge A.

“…Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no…”
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AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models by Gumusgoz, Emrah, Kasiri, Sahba, Guisso, Dikran R., Wu, Jun, Dear, Matthew, Verhalen, Brandy, Minassian, Berge A.

“…Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in…”
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