Works matching AU De Vivo, Darryl C.

Results: 103

Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2021, v. 14, n. 3, p. 451, doi. 10.3233/PRM-190664

By:

Fragala-Pinkham, Maria;
Pasternak, Amy;
McDermott, Michael P.;
Mirek, Elizabeth;
Glanzman, Allan M.;
Montes, Jacqueline;
Dunaway Young, Sally;
Salazar, Rachel;
Quigley, Janet;
Riley, Susan O.;
Chiriboga, Claudia A.;
Finkel, Richard S.;
Tennekoon, Gihan;
Martens, William B.;
De Vivo, Darryl C.;
Darras, Basil T.

Publication type:

Article

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

Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 224, doi. 10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P

By:

Wang, Dong;
Kranz-Eble, Pamela;
De Vivo, Darryl C.

Publication type:

Article

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2155, doi. 10.1002/acn3.51889

By:

Proud, Crystal M.;
Mercuri, Eugenio;
Finkel, Richard S.;
Kirschner, Janbernd;
De Vivo, Darryl C.;
Muntoni, Francesco;
Saito, Kayoko;
Tizzano, Eduardo F.;
Desguerre, Isabelle;
Quijano‐Roy, Susana;
Benguerba, Kamal;
Raju, Dheeraj;
Faulkner, Eric;
Servais, Laurent

Publication type:

Article

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 787, doi. 10.1002/acn3.51767

By:

Tayebi, Naeimeh;
Leon‐Ricardo, Brian;
McCall, Kevin;
Mehinovic, Elvisa;
Engelstad, Kristin;
Huynh, Vincent;
Turner, Tychele N.;
Weisenberg, Judy;
Thio, Liu L.;
Hruz, Paul;
Williams, Robin S. B.;
De Vivo, Darryl C.;
Petit, Vincent;
Haller, Gabe;
Gurnett, Christina A.

Publication type:

Article

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1941, doi. 10.1002/acn3.51687

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.

Publication type:

Article

Visual memory failure presages conversion to MELAS phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 841, doi. 10.1002/acn3.51564

By:

Leaffer, Emily B.;
De Vivo, Darryl C.;
Engelstad, Kristin;
Fryer, Robert H.;
Gu, Yian;
Shungu, Dikoma C.;
Hirano, Michio;
DiMauro, Salvatore;
Hinton, Veronica J.

Publication type:

Article

Scientific rationale for a higher dose of nusinersen.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 819, doi. 10.1002/acn3.51562

By:

Finkel, Richard S.;
Ryan, Monique M.;
Pascual Pascual, Samuel Ignacio;
Day, John W.;
Mercuri, Eugenio;
De Vivo, Darryl C.;
Foster, Richard;
Montes, Jacqueline;
Gurgel‐Giannetti, Juliana;
MacCannell, Drew;
Berger, Zdenek

Publication type:

Article

Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.

Published in:

2021

By:

Logel, Santhi N.;
Connor, Ellen L.;
Hsu, David A.;
Fenske, Rachel J.;
Paloian, Neil J.;
De Vivo, Darryl C.

Publication type:

Case Study

Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1151, doi. 10.1002/acn3.51359

By:

Engelstad, Kristin;
Salazar, Rachel;
Koenigsberger, Dorcas;
Stackowtiz, Erin;
Brodlie, Susan;
Brandabur, Melanie;
De Vivo, Darryl C.

Publication type:

Article

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1086, doi. 10.1002/acn3.51353

By:

Montes, Jacqueline;
Goodwin, Ashley M.;
McDermott, Michael P.;
Uher, David;
Hernandez, Feliz Marie;
Coutts, Kayla;
Cocchi, Julia;
Hauschildt, Margarethe;
Cornett, Kayla M.;
Rao, Ashwini K.;
Monani, Umrao R.;
Ewing Garber, Carol;
De Vivo, Darryl C.

Publication type:

Article

Therapeutic strategies for glucose transporter 1 deficiency syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1923, doi. 10.1002/acn3.50881

By:

Tang, Maoxue;
Park, Sarah H.;
De Vivo, Darryl C.;
Monani, Umrao R.

Publication type:

Article

Exploring mTOR inhibition as treatment for mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1877, doi. 10.1002/acn3.50846

By:

Sage‐Schwaede, Abigail;
Engelstad, Kristin;
Salazar, Rachel;
Curcio, Angela;
Khandji, Alexander;
Garvin Jr, James H.;
De Vivo, Darryl C.

Publication type:

Article

Neurofilament as a potential biomarker for spinal muscular atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779

By:

Darras, Basil T.;
Crawford, Thomas O.;
Finkel, Richard S.;
Mercuri, Eugenio;
De Vivo, Darryl C.;
Oskoui, Maryam;
Tizzano, Eduardo F.;
Ryan, Monique M.;
Muntoni, Francesco;
Zhao, Guolin;
Staropoli, John;
McCampbell, Alexander;
Petrillo, Marco;
Stebbins, Christopher;
Fradette, Stephanie;
Farwell, Wildon;
Sumner, Charlotte J.

Publication type:

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

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513

By:

Papadopoulou, Lefkothea C.;
Sue, Carolyn M.;
Davidson, Mercy M.;
Tanji, Kurenai;
Nishino, Ichizo;
Sadlock, James E.;
Krishna, Sindu;
Walker, Winsome;
Selby, Jeanette;
Glerum, D. Moira;
Coster, Rudy Van;
Lyon, Gilles;
Scalais, Emmanuel;
Lebel, Roger;
Kaplan, Paige;
Shanske, Sara;
De Vivo, Darryl C.;
Bonilla, Eduardo;
Hirano, Michio

Publication type:

Article

The spectrum of movement disorders in Glut-1 deficiency.

Published in:

Movement Disorders, 2010, v. 25, n. 3, p. 275, doi. 10.1002/mds.22808

By:

Pons, Roser;
Collins, Abbie;
Rotstein, Michael;
Engelstad, Kristin;
De Vivo, Darryl C

Publication type:

Article

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.

Published in:

Movement Disorders, 2006, v. 21, n. 2, p. 241, doi. 10.1002/mds.20660

By:

Friedman, Jennifer R.L.;
Thiele, Elizabeth A.;
Wang, Dong;
Levine, Kara B.;
Cloherty, Erin K.;
Pfeifer, Heidi H.;
De Vivo, Darryl C.;
Carruthers, Anthony;
Natowicz, Marvin R.

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.

Published in:

Annals of Neurology, 1988, v. 24, n. 4, p. 586, doi. 10.1002/ana.410240421

By:

Pavlakis, Steven G.;
Bello, Jacqueline;
Prohovnik, Isak;
Sutton, Millicent;
Ince, Carol;
Mohr, Jay P.;
Piomelli, Sergio;
Hilal, Sadek;
De Vivo, Darryl C.

Publication type:

Article

Brain infarction in sickle cell anemia: Magnetic resonance imaging correlates.

Published in:

Annals of Neurology, 1988, v. 23, n. 2, p. 125, doi. 10.1002/ana.410230204

By:

Pavlakis, Steven G.;
Bello, Jacqueline;
Prohovnik, Isak;
Sutton, Millicent;
Ince, Carol;
Mohr, Jay P.;
Piomelli, Sergio;
Hilal, Sadek;
De Vivo, Darryl C.

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 1987, v. 21, n. 5, p. 511, doi. 10.1002/ana.410210519

By:

De Vivo, Darryl C.;
Phillips, Peter C.;
Kremzner, Leon T.

Publication type:

Article

Cerebrospinal fluid polyamines: Biochemical markers of malignant childhood brain tumors.

Published in:

Annals of Neurology, 1986, v. 19, n. 4, p. 360, doi. 10.1002/ana.410190409

By:

Phillips, Peter C.;
Kremzner, Leon T.;
De Vivo, Darryl C.

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 1985, v. 18, n. 5, p. 626, doi. 10.1002/ana.410180526

By:

Pavlakis, Steven G.;
Phillips, Peter C.;
DiMauro, Salvatore;
De Vivo, Darryl C.;
Rowland, Lewis P.

Publication type:

Article

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome.

Published in:

Annals of Neurology, 1984, v. 16, n. 4, p. 481, doi. 10.1002/ana.410160409

By:

Pavlakis, Steven G.;
Phillips, Peter C.;
DiMauro, Salvatore;
De Vivo, Darryl C.;
Rowland, Lewis P.

Publication type:

Article

Cholesterol and phospholipids in cultured skin fibroblasts from patients with dystonia.

Published in:

Annals of Neurology, 1984, v. 16, n. 2, p. 250, doi. 10.1002/ana.410160215

By:

Maltese, William A.;
De Vivo, Darryl C.

Publication type:

Article

Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1419791

By:

Crawford, Thomas O.;
Day, John W.;
De Vivo, Darryl C.;
Krueger, Jena M.;
Mercuri, Eugenio;
Nascimento, Andres;
Pasternak, Amy;
Mazzone, Elena Stacy;
Duong, Tina;
Guochen Song;
Marantz, Jing L.;
Baver, Scott;
Dongzi Yu;
Lan Liu;
Darras, Basil T.

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

GLUT1 deficiency and other glucose transporter diseases.

Published in:

European Journal of Endocrinology, 2004, v. 150, n. 5, p. 0627

By:

Juan M Pascual;
Dong Wang;
Beatriz Lecumberri;
Hong Yang;
Xia Mao;
Ru Yang;
Darryl C De Vivo

Publication type:

Article

GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration.

Published in:

Nature Neuroscience, 2015, v. 18, n. 4, p. 521, doi. 10.1038/nn.3966

By:

Winkler, Ethan A;
Nishida, Yoichiro;
Sagare, Abhay P;
Rege, Sanket V;
Bell, Robert D;
Perlmutter, David;
Sengillo, Jesse D;
Hillman, Sara;
Kong, Pan;
Nelson, Amy R;
Sullivan, John S;
Zhao, Zhen;
Meiselman, Herbert J;
Wenby, Rosalinda B;
Soto, Jamie;
Abel, E Dale;
Makshanoff, Jacob;
Zuniga, Edward;
De Vivo, Darryl C;
Zlokovic, Berislav V

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

A functionally dominant mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073

By:

Sacconi, Sabrina;
Salviati, Leonardo;
Nishigaki, Yutaka;
Walker, Winsome F.;
Hernandez-Rosa, Evelyn;
Trevisson, Eva;
Delplace, Severine;
Desnuelle, Claude;
Shanske, Sara;
Hirano, Michio;
Schon, Eric A.;
Bonilla, Eduardo;
De Vivo, Darryl C.;
DiMauro, Salvatore;
Davidson, Mercy M.

Publication type:

Article

A mouse model for Glut-1 haploinsufficiency.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1169, doi. 10.1093/hmg/ddl032

By:

Wang, Dong;
Pascual, Juan M.;
Yang, Hong;
Engelstad, Kristin;
Mao, Xia;
Cheng, Jianfeng;
Yoo, Jong;
Noebels, Jeffrey L.;
De Vivo, Darryl C.

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

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Published in:

2021

By:

Sharma, Rohit;
Reinstadler, Bryn;
Engelstad, Kristin;
Skinner, Owen S.;
Stackowitz, Erin;
Haller, Ronald G.;
Clish, Clary B.;
Pierce, Kerry;
Walker, Melissa A.;
Fryer, Robert;
Oglesbee, Devin;
Xiangling Mao;
Shungu, Dikoma C.;
Khatri, Ashok;
Michio Hirano;
De Vivo, Darryl C.;
Mootha, Vamsi K.;
Mao, Xiangling;
Hirano, Michio

Publication type:

journal article

In Memoriam: Arnold P. Gold (1926–2018)*.

Published in:

2018

By:

Bamford, Nigel S.;
De Vivo, Darryl C.

Publication type:

Obituary

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