Search Results - "Levy, Rebecca J"

Differentiation and maturation of oligodendrocytes in human three-dimensional neural cultures by Marton, Rebecca M., Miura, Yuki, Sloan, Steven A., Li, Qingyun, Revah, Omer, Levy, Rebecca J., Huguenard, John R., Pașca, Sergiu P.

“…Investigating human oligodendrogenesis and the interaction of oligodendrocytes with neurons and astrocytes would accelerate our understanding of the mechanisms…”
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Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice by Kvajo, Mirna, McKellar, Heather, Drew, Liam J, Lepagnol-Bestel, Aude-Marie, Xiao, Lan, Levy, Rebecca J, Blazeski, Richard, Arguello, P. Alexander, Lacefield, Clay O, Mason, Carol A, Simonneau, Michel, O'Donnell, James M, MacDermott, Amy B, Karayiorgou, Maria, Gogos, Joseph A

“…Carefully designed animal models of genetic risk factors are likely to aid our understanding of the pathogenesis of schizophrenia. Here, we study a mouse…”
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What Have Organoids and Assembloids Taught Us About the Pathophysiology of Neuropsychiatric Disorders? by Levy, Rebecca J., Paşca, Sergiu P.

“…Neuropsychiatric research has been impeded by limited access to human brain tissue, especially from early stages of neurodevelopment when the pathophysiology…”
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Pearls & Oy-sters: Exquisite Response of Sleep-Related Hypermotor Epilepsy to a Nicotine Patch by Nam, Spencer, Von Stein, Erica L, Meador, Kimford J, Levy, Rebecca J, Gallentine, William, Li, Yi

“…Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is characterized by brief (<2 minutes) seizures with abrupt onset…”
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Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency by Lopez‐Gomez, Carlos, Levy, Rebecca J., Sanchez‐Quintero, Maria J., Juanola‐Falgarona, Martí, Barca, Emanuele, Garcia‐Diaz, Beatriz, Tadesse, Saba, Garone, Caterina, Hirano, Michio

“…Objective Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance…”
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A Previously Healthy Adolescent With Acute Psychosis and Severe Hyperhidrosis by Rosenblatt, Tatiana, Ort, Katherine, Shaw, Richard, Levy, Rebecca J, Chen, Chen, Niemi, Angela, Hoang, Kim

“…A previously healthy 15-year-old boy presented with 3 months of progressive psychosis, insomnia, back and groin pain, and hyperhidrosis. On examination, the…”
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Delineating the epilepsy phenotype of NGLY1 deficiency by Levy, Rebecca J., Frater, Christina H., Gallentine, William B., Phillips, Jennifer M., Ruzhnikov, Maura R.

“…We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and…”
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De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures by Keller Sarmiento, Ignacio J., Bustos, Bernabe I., Blackburn, Joanna, Hac, Nicholas E.F., Ruzhnikov, Maura, Monroe, Matthea, Levy, Rebecca J., Kinsley, Lisa, Li, Megan, Silani, Vincenzo, Lubbe, Steven J., Krainc, Dimitri, Mencacci, Niccolò E.

“…Background FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. Objectives We describe 2…”
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A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder by Levy, Rebecca J., Timothy, Katherine W., Underwood, Jack F.G., Hall, Jeremy, Bernstein, Jonathan A., Pașca, Sergiu P.

“…CACNA1C encodes the voltage-gated L-type calcium channel CaV1.2. A specific gain-of-function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1)…”
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Ocular features of NGLY1 deficiency from a prospective longitudinal cohort by Frater, Christina H., Ruzhnikov, Maura R.Z., Beres, Shannon, Alcorn, Deborah, Shue, Ann, Levy, Rebecca J.

“…NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder,…”
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Evaluation of Seizure Risk in Infants After Cardiopulmonary Bypass in the Absence of Deep Hypothermic Cardiac Arrest by Levy, Rebecca J., Mayne, Elizabeth W., Sandoval Karamian, Amanda G., Iqbal, Mehreen, Purington, Natasha, Ryan, Kathleen R., Wusthoff, Courtney J.

“…Background Guidelines recommend evaluation for electrographic seizures in neonates and children at risk, including after cardiopulmonary bypass (CPB). Although…”
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A Case of Abulia From Left Middle Cerebral Artery Stroke in an Adolescent Treated Successfully With Short Duration Olanzapine by Connor, Andrew T., Crawford, Alex, Levy, Rebecca J., Schneider, Lauren M., Hollander, Seth A., Shaw, Richard J.

“…Abulia is defined as a pathological state of amotivation, apathy, and global absence of willpower. It presents with a challenging array of overlapping…”
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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy by Tise, Christina G., Morales, Jose Andres, Lee, Ariel S., Velez‐Bartolomei, Frances, Floyd, Brendan J., Levy, Rebecca J., Cusmano‐Ozog, Kristina P., Feigenbaum, Annette S., Ruzhnikov, Maura R. Z., Lee, Chung U., Enns, Gregory M.

“…We report three unrelated probands, two male and one female, diagnosed with Aicardi‐Goutières syndrome (AGS) after screening positive on California newborn…”
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Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population by Campbell, Teresa, Slone, Jesse, Metzger, Hallie, Liu, Wensheng, Sacharow, Stephanie, Yang, Amy, Moosajee, Mariya, La Morgia, Chiara, Carelli, Valerio, Palombo, Flavia, Lines, Matthew A., Innes, A. Micheil, Levy, Rebecca J., Neilson, Derek, Longo, Nicola, Huang, Taosheng

“…Purpose: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the…”
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Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature by Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, Vivo, Darryl C. De, DiMauro, Salvatore

“…We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of…”
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Copy number variation and psychiatric disease risk by Levy, Rebecca J, Xu, Bin, Gogos, Joseph A, Karayiorgou, Maria

“…Psychiatric disorders are multifactorial in nature with complex genetic architecture. A number of recent studies, building upon earlier findings of copy number…”
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice by McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Berg, Anne T, Borlot, Felippe, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, 2nd, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Kellogg, Marissa A, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Ostrander, Betsy, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika

“…It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes…”
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Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice by Kvajo, Mirna, McKellar, Heather, Drew, Liam J., Lepagnol-Bestel, Aude-Marie, Xiao, Lan, Levy, Rebecca J., Blazeski, Richard, Arguello, P. Alexander, Lacefield, Clay O., Mason, Carol A., Simonneau, Michel, O'Donnell, James M., MacDermott, Amy B., Karayiorgou, Maria, Gogos, Joseph A.

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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy by Tise, Christina G, Morales, Jose Andres, Lee, Ariel S, Velez-Bartolomei, Frances, Floyd, Brendan J, Levy, Rebecca J, Cusmano-Ozog, Kristina P, Feigenbaum, Annette S, Ruzhnikov, Maura R Z, Lee, Chung U, Enns, Gregory M

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