Search Results - "Pearson, Toni S."

Genetic mimics of cerebral palsy by Pearson, Toni S., Pons, Roser, Ghaoui, Roula, Sue, Carolyn M.

“…The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a…”
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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons by Pearson, Toni S., Gupta, Nalin, San Sebastian, Waldy, Imamura-Ching, Jill, Viehoever, Amy, Grijalvo-Perez, Ana, Fay, Alex J., Seth, Neha, Lundy, Shannon M., Seo, Youngho, Pampaloni, Miguel, Hyland, Keith, Smith, Erin, de Oliveira Barbosa, Gardenia, Heathcock, Jill C., Minnema, Amy, Lonser, Russell, Elder, J. Bradley, Leonard, Jeffrey, Larson, Paul, Bankiewicz, Krystof S.

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in…”
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Phenotypic Spectrum of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) by Pearson, Toni S., Akman, Cigdem, Hinton, Veronica J., Engelstad, Kristin, De Vivo, Darryl C.

“…Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy,…”
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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group by Klepper, Joerg, Akman, Cigdem, Armeno, Marisa, Auvin, Stéphane, Cervenka, Mackenzie, Cross, Helen J., De Giorgis, Valentina, Della Marina, Adela, Engelstad, Kristin, Heussinger, Nicole, Kossoff, Eric H., Leen, Wilhelmina G., Leiendecker, Baerbel, Monani, Umrao R., Oguni, Hirokazu, Neal, Elizabeth, Pascual, Juan M., Pearson, Toni S., Pons, Roser, Scheffer, Ingrid E., Veggiotti, Pierangelo, Willemsen, Michél, Zuberi, Sameer M., De Vivo, Darryl C.

“…Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion…”
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Long-Term Clinical Course of Glut1 Deficiency Syndrome by Alter, Aliza S., Engelstad, Kristin, Hinton, Veronica J., Montes, Jacqueline, Pearson, Toni S., Akman, Cigdem I., De Vivo, Darryl C.

“…Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores,…”
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes by Pearson, Toni S

“…BACKGROUNDThe autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to…”
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Under‐recognition of leg dystonia in people with cerebral palsy by Bhooma Aravamuthan, Toni S. Pearson, Keerthana Chintalapati, Keisuke Ueda

“…Abstract Objective To determine the rates of clinical under‐documentation of leg dystonia in people with cerebral palsy (CP). Methods In this prospective…”
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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis by Kennedy, Adam D, Pappan, Kirk L, Donti, Taraka, Delgado, Mauricio R, Shinawi, Marwan, Pearson, Toni S, Lalani, Seema R, Craigen, William E, Sutton, V Reid, Evans, Anne M, Sun, Qin, Emrick, Lisa T, Elsea, Sarah H

“…Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine…”
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A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome by Abreu, Damien, Stone, Stephen I, Pearson, Toni S, Bucelli, Robert C, Simpson, Ashley N, Hurst, Stacy, Brown, Cris M, Kries, Kelly, Onwumere, Chinyere, Gu, Hongjie, Hoekel, James, Tychsen, Lawrence, Van Stavern, Gregory P, White, Neil H, Marshall, Bess A, Hershey, Tamara, Urano, Fumihiko

“…BACKGROUNDWolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration…”
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Caregiver descriptions of dystonia in cerebral palsy by Jaleel, Fayza, Rust, Alyssa, Cheung, Shirley, Pearson, Toni S., Ueda, Keisuke, Robichaux‐Viehoever, Amy, Leger, Katie, Chintalapati, Keerthana, Guez‐Barber, Danielle, Shusterman, Michele, Aravamuthan, Bhooma

“…Objective To determine how caregivers describe dystonia in people with cerebral palsy (CP). Methods In this prospective cohort study, paper surveys were…”
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The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile by Lee, Michelle M., McDowell, Graeme S. V., De Vivo, Darryl C., Friedman, Daniel, Berkovic, Samuel F., Spanou, Maria, Dinopoulos, Argirios, Grand, Katheryn, Sanchez‐Lara, Pedro A., Allen‐Sharpley, Michelle, Warman‐Chardon, Jodi, Solyom, Alexander, Levade, Thierry, Schuchman, Edward H., Bennett, Steffany A. L., Dyment, David A., Pearson, Toni S.

“…Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy…”
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Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis by Kennedy, Adam D, Pappan, Kirk L, Donti, Taraka, Delgado, Mauricio R, Shinawi, Marwan, Pearson, Toni S, Lalani, Seema R, Craigen, William J, Sutton, V Reid, Evans, Anne M, Sun, Qin, Emrick, Lisa T, Elsea, Sarah H

“…[This corrects the article DOI: 10.3389/fnins.2019.00394.]…”
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Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia by Becker, Andrew E, Vargas, Wendy, Pearson, Toni S

“…BACKGROUNDAtaxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and…”
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Dystonia in individuals with spastic cerebral palsy and isolated periventricular leukomalacia by Ueda, Keisuke, Aravamuthan, Bhooma R., Pearson, Toni S.

“…Aim To determine the prevalence of dystonia in individuals with periventricular leukomalacia (PVL) and spastic cerebral palsy (CP), but without basal ganglia…”
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Brain Region Size Differences Associated With Dystonia in People With Cerebral Palsy Born Premature by Chintalapati, Keerthana, Pearson, Toni S., Ueda, Keisuke, Aravamuthan, Bhooma R.

“…Dystonia in cerebral palsy (CP) is classically associated with deep gray matter injury at term gestation, but the patterns of injury associated with dystonia…”
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Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency) by Baribeau, Danielle A., Vorstman, Jacob A.S., Pearson, Toni S.

“…A 7-year-old girl presented with persistent anxiety symptoms for several years following gene therapy for an ultrarare neurometabolic disorder (aromatic…”
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Epileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function by Pearson, Toni S, Helbig, Ingo

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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency by Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F, Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S, Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L, Lee, Wang Tso, Kurian, Manju A, Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas

“…Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of…”
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Quantifying Patient Investment in Novel Neurological Drug Development by MacPherson, Amanda, Gumnit, Elias, Ouimet, Charlotte, Hutchinson, Nora, Kieburtz, Karl, Pearson, Toni S., Kimmelman, Jonathan

“…While the drug development literature provides numerous estimates of the financial costs to bring a new drug to market, the investment of patient-participants…”
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes by Pearson, Toni S

“…The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive…”
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