Works by De Vivo, Darryl C.

Results: 102

Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome.

Published in:

1999

By:

Klepper, Jörg;
Garcia-Alvarez, Marcela;
O'Driscoll, Kevin R.;
Parides, Michael K.;
Wang, Dong;
Ho, Yuan Yuan;
De Vivo, Darryl C.;
Klepper, J;
Garcia-Alvarez, M;
O'Driscoll, K R;
Parides, M K;
Wang, D;
Ho, Y Y;
De Vivo, D C

Publication type:

journal article

Clinical Application of Whole-Exome Sequencing.

Published in:

JAMA Neurology, 2013, v. 70, n. 6, p. 788, doi. 10.1001/jamaneurol.2013.247

By:

Liew, Wendy K. M.;
Ben-Omran, Tawfeg;
Darras, Basil T.;
Prabhu, Sanjay P.;
De Vivo, Darryl C.;
Vatta, Matteo;
Yaping Yang;
Eng, Christine M.;
Chung, Wendy K.

Publication type:

Article

Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 13, p. 1483, doi. 10.1177/0883073816661662

By:

Blumenschine, Michelle;
Montes, Jacqueline;
Rao, Ashwini K.;
Engelstad, Kristin;
De Vivo, Darryl C.

Publication type:

Article

Long-Term Clinical Course of Glut1 Deficiency Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822

By:

Alter, Aliza S.;
Engelstad, Kristin;
Hinton, Veronica J.;
Montes, Jacqueline;
Pearson, Toni S.;
Akman, Cigdem I.;
De Vivo, Darryl C.

Publication type:

Article

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.

Published in:

2014

By:

Levy, Rebecca J.;
Ríos, Purificación Gutierrez;
Akman, Hasan O.;
Sciacco, Monica;
Vivo, Darryl C. De;
DiMauro, Salvatore

Publication type:

Case Study

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Published in:

2013

By:

LaMarca, Nicole Holuba;
Golden, Lauren;
John, Rita Marie;
Naini, Ali;
Vivo, Darryl C. De;
Sproule, Douglas M.

Publication type:

Case Study

Weakness and Fatigue in Diverse Neuromuscular Diseases.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 10, p. 1277, doi. 10.1177/0883073813493663

By:

Montes, Jacqueline;
Blumenschine, Michelle;
Dunaway, Sally;
Alter, Aliza S.;
Engelstad, Kristin;
Rao, Ashwini K.;
Chiriboga, Claudia A.;
Sproule, Douglas M.;
Vivo, Darryl C. De

Publication type:

Article

Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 5, p. 576, doi. 10.1177/0883073812449383

By:

Dunaway, Sally;
Montes, Jacqueline;
O’Hagen, Jessica;
Sproule, Douglas M.;
Vivo, Darryl C. De;
Kaufmann, Petra

Publication type:

Article

Valproic Acid Enhances Glucose Transport in the Cultured Brain Astrocytes of Glucose Transporter 1 Heterozygous Mice.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 1, p. 70, doi. 10.1177/0883073812440044

By:

Kim, Sung-Koo;
Yang, Hong;
Pascual, Juan M.;
De Vivo, Darryl C.

Publication type:

Article

Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 7, p. 845, doi. 10.1177/0883073811415680

By:

Sproule, Douglas M.;
Hasnain, Ridda;
Koenigsberger, Dorcas;
Montgomery, Megan;
De Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change Over Time—A Case Report.

Published in:

2012

By:

Dunaway, Sally;
Montes, Jacqueline;
Ryan, Patricia A.;
Montgomery, Megan;
Sproule, Douglas M.;
Vivo, Darryl C. De

Publication type:

Case Study

Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 12, p. 1499, doi. 10.1177/0883073811420294

By:

Glanzman, Allan M.;
O’Hagen, Jessica M.;
McDermott, Michael P.;
Martens, William B.;
Flickinger, Jean;
Riley, Susan;
Quigley, Janet;
Montes, Jacqueline;
Dunaway, Sally;
Deng, Liyong;
Chung, Wendy K.;
Tawil, Rabi;
Darras, Basil T.;
De Vivo, Darryl C.;
Kaufmann, Petra;
Finkel, Richard S.

Publication type:

Article

Thigh Muscle Volume Measured by Magnetic Resonance Imaging Is Stable Over a 6-Month Interval in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 10, p. 1252, doi. 10.1177/0883073811405053

By:

Sproule, Douglas M.;
Montgomery, Megan J.;
Punyanitya, Mark;
Shen, Wei;
Dashnaw, Stephen;
Montes, Jacqueline;
Dunaway, Sally;
Finkel, Richard;
Darras, Basil;
Vivo, Darryl C. De;
Kaufmann, Petra

Publication type:

Article

Muscle Volume Estimation by Magnetic Resonance Imaging in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 3, p. 309, doi. 10.1177/0883073810380457

By:

Sproule, Douglas M.;
Punyanitya, Mark;
Wei Shen;
Dashnaw, Stephan;
Martens, Bill;
Montgomery, Megan;
Montes, Jacqueline;
Battista, Vanessa;
Finkel, Richard;
Darras, Basil;
De Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Bioelectrical Impedance Analysis Can Be a Useful Screen for Excess Adiposity in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 11, p. 1348, doi. 10.1177/0883073810365185

By:

Sproule, Douglas M.;
Montes, Jacqueline;
Dunaway, Sally L.;
Montgomery, Megan;
Battista, Vanessa;
Wei Shen;
Punyanitya, Mark;
de Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Honoring a Giant in Child Neurology … Help Find and Fund New Ones: Contributing to the Philip R. Dodge Young Investigator Award Endowment Fund.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 2, p. 250, doi. 10.1177/0883073809359936

By:

De Vivo, Darryl C.;
Fishman, Marvin A.;
Johnsen, Stanley D.;
Prensky, Arthur L.;
Volpe, Joseph J.

Publication type:

Article

Clinical Outcome Measures in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 968, doi. 10.1177/0883073809332702

By:

Montes, Jacqueline;
Gordon, Andrew M.;
Pandya, Shree;
De Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 8, p. 670, doi. 10.1177/08830738050200080701

By:

Tay, Stacey K. H.;
Sacconi, Sabrina;
Akman, H. Ohran;
Morales, Judith F.;
Morales, Augusto;
de Vivo, Darryl C.;
Shanske, Sara;
Bonilla, Eduardo;
diMauro, Salvatore

Publication type:

Article

Mitochondrial Disorders.

Published in:

Journal of Child Neurology, 2002, v. 17, p. 3S35

By:

DiMauro, Salvatore;
Andreu, Antoni L.;
De Vivo, Darryl C.

Publication type:

Article

Glucose Transporter 1 Deficiency Syndrome and Other Glydolytic Defects.

Published in:

Journal of Child Neurology, 2002, v. 17, p. 3S15

By:

De Vivo, Darryl C.;
Leaiy, Linda;
Wang, Dong

Publication type:

Article

Classification of Infantile Seizures: Implications for Identification and Treatment of Inborn Errors of Metabolism.

Published in:

Journal of Child Neurology, 2002, v. 17, p. 3S3, doi. 10.1177/088307380201703s03

By:

Nordli Jr, Douglas R.;
Vivo, Darryl C. De

Publication type:

Article

Inherited Metabolic Disorders and Seizures in Infancy.

Published in:

2002

By:

Vivo, Darryl C. De

Publication type:

Editorial

Does the Patient Have a Mitochondrial Encephalomyopathy?

Published in:

Journal of Child Neurology, 1999, v. 14, n. 1S, p. S23, doi. 10.1177/0883073899014001051

By:

DiMauro, Salvatore;
Bonilla, Eduardo;
De Vivo, Darryl C.

Publication type:

Article

Diagnostic Approach to Metabolic Encephalopathies.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 1S, p. S1, doi. 10.1177/0883073899014001011

By:

De Vivo, Darryl C.

Publication type:

Article

Postinflammatory Hydrocephalus and Intracranial Mass Lesion From Candida in an Immunocompetent Child.

Published in:

Journal of Child Neurology, 1996, v. 11, n. 4, p. 336, doi. 10.1177/088307389601100413

By:

Mason, Thornton B.A.;
Chiriboga, Claudia A.;
Cargan, Abba L.;
Hauger, Sarmistha B.;
La Russa, Philip S.;
Glick, Rachel S.;
Carmel, Peter W.;
Khandji, Alexander G.;
De Vivo, Darryl C.

Publication type:

Article

Primary and Secondary Carnitine Deficiency Syndromes.

Published in:

Journal of Child Neurology, 1995, v. 10, n. 2S, p. 2S8, doi. 10.1177/088307389501000203

By:

Pons, Roser;
De Vivo, Darryl C.

Publication type:

Article

Electrophysiologic Correlates of Peripheral Nervous System Maturation in Infancy and Childhood.

Published in:

Journal of Child Neurology, 1993, v. 8, n. 4, p. 336, doi. 10.1177/088307389300800408

By:

Parano, Enrico;
Uncini, Antonio;
De Vivo, Darryl C.;
Lovelace, Robert E.

Publication type:

Article

Reply to: The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.

Published in:

Annals of Neurology, 2022, v. 91, n. 6, p. 892, doi. 10.1002/ana.26357

By:

Yeo, Crystal J. J.;
Simmons, Zachary;
De Vivo, Darryl C.;
Darras, Basil T.

Publication type:

Article

Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients.

Published in:

Annals of Neurology, 2022, v. 91, n. 3, p. 305, doi. 10.1002/ana.26299

By:

Yeo, Crystal J. J.;
Simmons, Zachary;
De Vivo, Darryl C.;
Darras, Basil T.

Publication type:

Article

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 9, p. 1503, doi. 10.1111/j.1528-1167.2012.03592.x

By:

Pong, Amanda W.;
Geary, Brianna R.;
Engelstad, Kris M.;
Natarajan, Ashwini;
Yang, Hong;
De Vivo, Darryl C.

Publication type:

Article

Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.

Published in:

Journal of Neuromuscular Diseases, 2025, v. 12, n. 1, p. 45, doi. 10.1177/22143602241313326

By:

Rodriguez-Torres, Rafael;
Kanner, Cara H;
Gay, Emma L;
Uher, David;
Corbeil, Thomas;
Coratti, Giorgia;
Dunaway Young, Sally;
Rohwer, Annemarie;
Muni Lofra, Robert;
McDermott, Michael P;
De Vivo, Darryl C;
Wall, Melanie M;
Glynn, Nancy W;
Montes, Jacqueline

Publication type:

Article

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

Published in:

Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 425, doi. 10.3233/JND-230122

By:

Servais, Laurent;
Day, John W.;
De Vivo, Darryl C.;
Kirschner, Janbernd;
Mercuri, Eugenio;
Muntoni, Francesco;
Proud, Crystal M.;
Shieh, Perry B.;
Tizzano, Eduardo F.;
Quijano-Roy, Susana;
Desguerre, Isabelle;
Saito, Kayoko;
Faulkner, Eric;
Benguerba, Kamal M.;
Raju, Dheeraj;
LaMarca, Nicole;
Sun, Rui;
Anderson, Frederick A.;
Finkel, Richard S.

Publication type:

Article

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 813, doi. 10.3233/JND-221667

By:

Finkel, Richard S.;
Day, John W.;
Pascual Pascual, Samuel Ignacio;
Ryan, Monique M.;
Mercuri, Eugenio;
De Vivo, Darryl C.;
Montes, Jacqueline;
Gurgel-Giannetti, Juliana;
Monine, Michael;
Gambino, Giulia;
Makepeace, Corinne;
Foster, Richard;
Berger, Zdenek

Publication type:

Article

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.

Published in:

Annals of Neurology, 2011, v. 70, n. 6, p. 996, doi. 10.1002/ana.22640

By:

Yang, Hong;
Wang, Dong;
Engelstad, Kristin;
Bagay, Leslie;
Wei, Ying;
Rotstein, Michael;
Aggarwal, Vimla;
Levy, Brynn;
Ma, Lijiang;
Chung, Wendy K.;
De Vivo, Darryl C.

Publication type:

Article

Glut1 deficiency: Inheritance pattern determined by haploinsufficiency.

Published in:

Annals of Neurology, 2010, v. 68, n. 6, p. 955, doi. 10.1002/ana.22088

By:

Rotstein, Michael;
Engelstad, Kristin;
Yang, Hong;
Wang, Dong;
Levy, Brynn;
Chung, Wendy K.;
De Vivo, Darryl C.

Publication type:

Article

Childhood absence epilepsy as a manifestation of GLUT1 deficiency.

Published in:

Annals of Neurology, 2010, v. 67, n. 2, p. 272, doi. 10.1002/ana.21963

By:

Rotstein, Michael;
De Vivo, Darryl C.

Publication type:

Article

Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.

Published in:

Annals of Neurology, 2010, v. 67, n. 1, p. 31, doi. 10.1002/ana.21797

By:

Akman, Cigdem I.;
Engelstad, Kristin;
Hinton, Veronica J.;
Ullner, Paivi;
Koenigsberger, Dorcas;
Leary, Linda;
Wang, Dong;
De Vivo, Darryl C.

Publication type:

Article

Foreword.

Published in:

Annals of Neurology, 2003, v. 54, n. s6, p. S1

By:

Darryl C. De Vivo;
Michael V. Johnston

Publication type:

Article

Imaging the metabolic footprint of Glut1 deficiency on the brain.

Published in:

2002

By:

Pascual, Juan M.;
van Heertum, Ronald L.;
Wang, Dong;
Engelstad, Kristin;
De Vivo, Darryl C.

Publication type:

journal article

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.

Published in:

2001

By:

Brockmann, Knut;
Wang, Dong;
Korenke, Christoph G.;
Von Moers, Arpad;
Ho, Yuan-Yuan;
Pascual, Juan M.;
Kuang, Kunyan;
Yang, Hong;
Ma, Li;
Kranz-Eble, Pamela;
Fischbarg, Jorge;
Hanefeld, Folker;
De Vivo, Darryl C.;
Brockmann, K;
Wang, D;
Korenke, C G;
von Moers, A;
Ho, Y Y;
Pascual, J M;
Kuang, K

Publication type:

journal article

Solving the COX puzzle.

Published in:

1999

By:

De Vivo, Darryl C.;
De Vivo, D C

Publication type:

commentary

Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome.

Published in:

Annals of Neurology, 1998, v. 44, n. 2, p. 286, doi. 10.1002/ana.410440225

By:

Klepper, Jörg;
Vera, Juan Carlos;
de Vivo, Darryl C.

Publication type:

Article

Genetic heterogeneity in leigh syndrome.

Published in:

Annals of Neurology, 1996, v. 40, n. 1, p. 5, doi. 10.1002/ana.410400104

By:

Dimauro, Salvatore;
de Vivo, Darryl C.

Publication type:

Article

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity.

Published in:

Annals of Neurology, 1994, v. 36, n. 1, p. 83, doi. 10.1002/ana.410360116

By:

Fujii, Tatsuya;
Van Coster, Rudy N.;
Old, Susan E.;
Medori, Rosella;
Winter, Susan;
Gubits, Ruth M.;
Matthews, Paul M.;
Brown, Ruth M.;
Brown, Garry K.;
Dahl, Hans-Henrik M.;
De Vivo, Darryl C.

Publication type:

Article

Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis.

Published in:

Annals of Neurology, 1990, v. 28, n. 6, p. 833, doi. 10.1002/ana.410280617

By:

Maccollin, Mia;
De Vivo, Darryl C.;
Moser, Ann B.;
Beard, Margaret

Publication type:

Article

Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts.

Published in:

Annals of Neurology, 1989, v. 26, n. 6, p. 746, doi. 10.1002/ana.410260610

By:

Old, Susan E.;
de Vivo, Darryl C.

Publication type:

Article

Reply to: Comment on De Giorgis et al. "Randomized Phase 3 Study of Triheptanoin for Glut1 Deficiency Syndrome–Associated Paroxysmal Movement Disorders".

Published in:

Movement Disorders, 2024, v. 39, n. 10, p. 1899, doi. 10.1002/mds.29985

By:

De Giorgis, Valentina;
De Vivo, Darryl C.

Publication type:

Article

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.

Published in:

Movement Disorders, 2024, v. 39, n. 8, p. 1386, doi. 10.1002/mds.29822

By:

De Giorgis, Valentina;
Bhatia, Kailash P.;
Boespflug‐Tanguy, Odile;
Gras, Domitille;
Marina, Adela Della;
Desurkar, Archana;
Toledo, Manuel;
Miller, Ian;
Rotstein, Michael;
Schneider, Susanne A.;
Tarquinio, Daniel C.;
Weber, Yvonne;
Brandabur, Melanie;
Mayhew, Jill;
Koutsoukos, Tony;
De Vivo, Darryl C.

Publication type:

Article

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

Published in:

Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X15627937

By:

Kurt, Yasemin Gulcan;
Çoku, Jorida;
Akman, H. Orhan;
Naini, Ali;
Jesheng Lu;
Engelstad, Kristin;
Hirano, Michio;
De Vivo, Darryl C.;
DiMauro, Salvatore

Publication type:

Article

Leigh syndrome: Historical perspective and clinical variations.

Published in:

Biofactors, 1998, v. 7, n. 3, p. 269, doi. 10.1002/biof.5520070325

By:

De Vivo, Darryl C.

Publication type:

Article