Search Results - "Pearl, Phillip"

Intelligent biomarker panel development for neurometabolic disease by Pearl, Phillip L.

“…This commentary is on the original article by Papandreou et al. on pages 1539–1546 of this issue…”
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The promise of personalized medicine in pediatric epilepsy – The time has come by Pearl, Phillip L.

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The neurology of creativity: 2023 Hower lecture by Pearl, Phillip L

“…The neurology of creativity implies network activity; no singular cerebral area is invoked. A clinician-scientist can develop a creative research project from…”
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Comment: Amenable Treatable Severe Pediatric Epilepsies by Pearl, Phillip L

“…Phillip L. Pearl Seminars in Pediatric Neurology Volume 23, Issue 2, May 2016, Pages 158-166 Vitamin-dependent epilepsies and multiple metabolic epilepsies are…”
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Characterizing, classifying, and collecting spells in paroxysmal disorders – A need as targeted therapies approach for childhood neurological disorders by Pearl, Phillip L.

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Child neurology, COVID‐19, and crisis in society by Pearl, Phillip L

“…Video Podcast: https://www.youtube.com/watch?v=du9HqKBn0SM&t=1s…”
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Treatable inherited metabolic epilepsies by Latzer, Itay Tokatly, Pearl, Phillip L.

“…•Approximately 20 % of the inherited metabolic epilepsies are amenable to disorder-specific therapies.•Despite being individually rare, the combined prevalence…”
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Urgent unmet need for pharmaceutical grade vitamin therapy in pyridoxine dependent epilepsies by Pearl, Phillip L.

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Autonomic risks in Alternating Hemiplegia of Childhood by Pearl, Phillip L.

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Commonalities in epileptogenic processes from different acute brain insults: Do they translate? by Klein, Pavel, Dingledine, Raymond, Aronica, Eleonora, Bernard, Christophe, Blümcke, Ingmar, Boison, Detlev, Brodie, Martin J., Brooks‐Kayal, Amy R., Engel, Jerome, Forcelli, Patrick A., Hirsch, Lawrence J., Kaminski, Rafal M., Klitgaard, Henrik, Kobow, Katja, Lowenstein, Daniel H., Pearl, Phillip L., Pitkänen, Asla, Puhakka, Noora, Rogawski, Michael A., Schmidt, Dieter, Sillanpää, Matti, Sloviter, Robert S., Steinhäuser, Christian, Vezzani, Annamaria, Walker, Matthew C., Löscher, Wolfgang

“…Summary The most common forms of acquired epilepsies arise following acute brain insults such as traumatic brain injury, stroke, or central nervous system…”
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Amenable Treatable Severe Pediatric Epilepsies by Pearl, Phillip L.

“…Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably…”
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Childhood-onset hereditary spastic paraplegia and its treatable mimics by Ebrahimi-Fakhari, Darius, Saffari, Afshin, Pearl, Phillip L.

“…Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common “mimics” of…”
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Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease by Pearl, Phillip L., Kunz, Wolfram S.

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Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity by Lee, Henry Hing Cheong, Pearl, Phillip L., Rotenberg, Alexander

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inborn metabolic disorder caused by the functional impairment of SSADH (encoded by the…”
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GABA: no longer the faithful neurotransmitter by Pearl, Phillip L

“…This commentary is on the original article by Cortés‐Saladelafont et al. on pages 780–792 of this issue…”
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Treatment of neurometabolic epilepsies: Overview and recent advances by Tokatly Latzer, Itay, Pearl, Phillip L.

“…•There is an immense challenge to develop novel therapies for neurometabolic epilepsies.•There have been recent dramatic developments in our understanding of…”
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How the jazz medium can inform interprofessional health care teams in improving patient care by Pearl, Phillip L., Greenberg, Larrie

“…Interprofessional Health Care Teams (IPHCTs) are essential to provide cost-effective and efficient care to patients with complex illnesses, requiring the…”
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Epilepsy Syndromes in Childhood by Pearl, Phillip L.

“…Epilepsy syndromes are an important clinical construct in pediatric epilepsy, as they encompass recognizable patterns seen in patients with epilepsies, whether…”
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Fetal anomaly diagnosis and termination of pregnancy by Graf, William D., Cohen, Bruce H., Kalsner, Louisa, Pearl, Phillip L., Sarnat, Harvey B., Epstein, Leon G.

“…The aim of this review was to discuss bioethics in prenatal diagnosis and health care after recent legislative and judicial changes affecting reproductive…”
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Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine by Lee, Henry H C, McGinty, Gabrielle E, Pearl, Phillip L, Rotenberg, Alexander

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare genetic disorder caused by inefficient metabolic breakdown of the major inhibitory…”
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