Search Results - "deGrauw, Ton J."

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency by Skelton, Matthew R, Schaefer, Tori L, Graham, Devon L, Degrauw, Ton J, Clark, Joseph F, Williams, Michael T, Vorhees, Charles V

“…Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral…”
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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation by Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.

“…A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the…”
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Seizure recurrence risk following a first seizure in neurologically normal children by Arthur, Todd M., DeGrauw, Ton J., Johnson, Cynthia S., Perkins, Susan M., Kalnin, Andrew, Austin, Joan K., Dunn, David W.

“…Summary Purpose:  To define seizure recurrence rates in normal children who had had a single seizure and to define electroencephalography (EEG) or magnetic…”
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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application by Rosenberg, Efraim H., Martínez Muñoz, Cristina, Betsalel, Ofir T., van Dooren, Silvy J.M., Fernandez, Matilde, Jakobs, Cornelis, deGrauw, Ton J., Kleefstra, Tjitske, Schwartz, Charles E., Salomons, Gajja S.

“…Creatine transporter deficiency is an X‐linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations…”
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Importance of muscle light microscopic mitochondrial subsarcolemmal aggregates in the diagnosis of respiratory chain deficiency by Miles, Lili, MD, Miles, Michael V., PharmD, Horn, Paul S., PhD, DeGrauw, Ton J., MD, PhD, Wong, Brenda L., MD, Bove, Kevin E., MD

“…Summary The purpose of this study was to evaluate relationships between subsarcolemmal mitochondrial aggregates and electron transport chain deficiencies in…”
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Magnetic Resonance Imaging Findings in Children With a First Recognized Seizure by Kalnin, Andrew J., MD, Fastenau, Philip S., PhD, deGrauw, Ton J., MD, PhD, Musick, Beverly S., MS, Perkins, Susan M., PhD, Johnson, Cynthia S., MA, Mathews, Vincent P., MD, Egelhoff, John C., DO, Dunn, David W., MD, Austin, Joan K., DNS, RN

“…This study characterized structural abnormalities associated with onset of seizures in children, using magnetic resonance imaging and a standardized…”
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Seizure frequency and characteristics in children with Down syndrome by Goldberg-Stern, Hadassa, Strawsburg, Richard H., Patterson, Bonnie, Hickey, Fran, Bare, Mary, Gadoth, Natan, Degrauw, Ton J.

“…Seizures have not historically been considered a major component of Down syndrome. We examined the prevalence of epileptic seizures in 350 children and…”
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Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency by Kurosawa, Yuko, Degrauw, Ton J, Lindquist, Diana M, Blanco, Victor M, Pyne-Geithman, Gail J, Daikoku, Takiko, Chambers, James B, Benoit, Stephen C, Clark, Joseph F

“…The second-largest cause of X-linked mental retardation is a deficiency in creatine transporter (CRT; encoded by SLC6A8), which leads to speech and language…”
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Self‐esteem and symptoms of depression in children with seizures: Relationships with neuropsychological functioning and family variables over time by Austin, Joan K., Perkins, Susan M., Johnson, Cynthia S., Fastenau, Philip S., Byars, Anna W., deGrauw, Ton J., Dunn, David W.

“…Summary Purpose:  To test over time the relationships of neuropsychological functioning to mental health in children following a first recognized seizure and,…”
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X-Linked Creatine-Transporter Gene ( SLC6A8) Defect: A New Creatine-Deficiency Syndrome by Salomons, Gajja S., van Dooren, Silvy J.M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis

“…We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay…”
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The relationship between sleep problems and neuropsychological functioning in children with first recognized seizures by Byars, Anna W, Byars, Kelly C, Johnson, Cynthia S, deGrauw, Ton J, Fastenau, Philip S, Perkins, Susan, Austin, Joan K, Dunn, David W

“…Abstract Epilepsy is associated with sleep disturbance, but little is known about how early this relationship develops and how it affects neuropsychological…”
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Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases by Stacpoole, Peter W., deGrauw, Ton.J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.

“…We report the design and implementation of the first phase 3 trial of CoenzymeQ 10 (CoQ 10 ) in children with genetic mitochondrial diseases. A novel, rigorous…”
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Language and social functioning in children and adolescents with epilepsy by Byars, Anna W, deGrauw, Ton J, Johnson, Cynthia S, Perkins, Susan M, Fastenau, Philip S, Dunn, David W, Austin, Joan K

“…Abstract Individuals with epilepsy have difficulties with social function that are not adequately accounted for by seizure severity or frequency. This study…”
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The effect of temperament and neuropsychological functioning on behavior problems in children with new-onset seizures by Baum, Katherine T, Byars, Anna W, deGrauw, Ton J, Dunn, David W, Bates, John E, Howe, Steven R, Chiu, C.-Y. Peter, Austin, Joan K

“…Abstract The present study is part of a larger project that seeks to identify factors that predict children’s behavioral, social, and cognitive adaptation to…”
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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia by Kure, Shigeo, Kato, Kumi, Dinopoulos, Agirios, Gail, Chuck, deGrauw, Ton J., Christodoulou, John, Bzduch, Vladimir, Kalmanchey, Rozalia, Fekete, Gyorgy, Trojovsky, Alex, Plecko, Barbara, Breningstall, Galen, Tohyama, Jun, Aoki, Yoko, Matsubara, Yoichi

“…Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms…”
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Enzyme inducing antiepileptic drugs are associated with mitochondrial proliferation and increased cytochrome c oxidase activity in muscle of children with epilepsy by Miles, Michael V, Miles, Lili, Horn, Paul S, DeGrauw, Ton J

“…Summary Purpose To evaluate the effects of epilepsy-related factors associated with mitochondrial pathology and function in skeletal muscle of children with…”
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The Association of MRI Findings and Neuropsychological Functioning after the First Recognized Seizure by Byars, Anna W., DeGrauw, Ton J., Johnson, Cynthia S., Fastenau, Philip S., Perkins, Susan M., Egelhoff, John C., Kalnin, Andrew, Dunn, David W., Austin, Joan K.

“…Purpose: To explore relationships between MRI abnormalities of the brain and neuropsychological functioning in children who were evaluated following their…”
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? by Cecil, Kim M., Salomons, Gajja S., Ball Jr, William S., Wong, Brenda, Chuck, Gail, Verhoeven, Nanda M., Jakobs, Cornelis, DeGrauw, Ton J.

“…Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the…”
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Incidence of brain creatine transporter deficiency in males with developmental delay referred for brain magnetic resonance imaging by NEWMEYER, Amy, CECIL, Kim M, SCHAPIRO, Mark, CLARK, Joseph F, DEGRAUW, Ton J

“…Several case reports describe children with global developmental delay who have brain creatine deficiency, where the deficiency was due to a lack of creatine…”
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Effectiveness of Amitriptyline in the Prophylactic Management of Childhood Headaches by Hershey, Andrew D., Powers, Scott W., Bentti, Anna-Liisa, DeGrauw, Ton J.

“…Objective.—To study the effectiveness of a standardized dose of amitriptyline, 1 mg/kg, for childhood headaches. Background.—Amitriptyline has been shown to be…”
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