Works by De Vivo, Darryl C.

Results: 103

Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2634, doi. 10.3390/jcm13092634

By:

Harding, Elizabeth R.;
Kanner, Cara H.;
Pasternak, Amy;
Glanzman, Allan M.;
Dunaway Young, Sally;
Rao, Ashwini K.;
McDermott, Michael P.;
Zolkipli-Cunningham, Zarazuela;
Day, John W.;
Finkel, Richard S.;
Darras, Basil T.;
De Vivo, Darryl C.;
Montes, Jacqueline

Publication type:

Article

Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1336, doi. 10.3390/jcm13051336

By:

Trancho, Caitlin;
Stickney, Bailey;
Kinirons, Stacy;
Uher, David;
Kanner, Cara H.;
Rao, Ashwini K.;
McDermott, Michael P.;
Garber, Carol Ewing;
De Vivo, Darryl C.;
Montes, Jacqueline

Publication type:

Article

Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function †.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 4901, doi. 10.3390/jcm12154901

By:

Dunaway Young, Sally;
Montes, Jacqueline;
Glanzman, Allan M.;
Gee, Richard;
Day, John W.;
Finkel, Richard S.;
Darras, Basil T.;
De Vivo, Darryl C.;
Gambino, Giulia;
Foster, Richard;
Wong, Janice;
Garafalo, Steve;
Berger, Zdenek

Publication type:

Article

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3458, doi. 10.3390/jcm12103458

By:

Rodriguez-Torres, Rafael S.;
Uher, David;
Gay, Emma L.;
Coratti, Giorgia;
Dunaway Young, Sally;
Rohwer, Annemarie;
Muni Lofra, Robert;
De Vivo, Darryl C.;
Hirano, Michio;
Glynn, Nancy W.;
Montes, Jacqueline

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

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

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

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

Longitudinal natural history of type I spinal muscular atrophy: a critical review.

Published in:

2020

By:

Mercuri, Eugenio;
Lucibello, Simona;
Perulli, Marco;
Coratti, Giorgia;
de Sanctis, Roberto;
Pera, Maria Carmela;
Pane, Marika;
Montes, Jacqueline;
de Vivo, Darryl C.;
Darras, Basil T.;
Kolb, Stephen J.;
Finkel, Richard S.

Publication type:

journal 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

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

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

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

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

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

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

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.

Published in:

Muscle & Nerve, 2023, v. 68, n. 2, p. 157, doi. 10.1002/mus.27853

By:

Crawford, Thomas O.;
Swoboda, Kathryn J.;
De Vivo, Darryl C.;
Bertini, Enrico;
Hwu, Wuh‐Liang;
Finkel, Richard S.;
Kirschner, Janbernd;
Kuntz, Nancy L.;
Nazario, Aledie Navas;
Parsons, Julie A.;
Pechmann, Astrid;
Ryan, Monique M.;
Butterfield, Russell J.;
Topaloglu, Haluk;
Ben‐Omran, Tawfeg;
Sansone, Valeria A.;
Jong, Yuh‐Jyh;
Shu, Francy;
Zhu, Cong;
Raynaud, Stephanie

Publication type:

Article

Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.

Published in:

Muscle & Nerve, 2023, v. 68, n. 1, p. 81, doi. 10.1002/mus.27765

By:

Cheng, Ricky;
Feng, Julia;
Goodwin, Ashley M.;
Uher, David;
Rao, Ashwini K.;
McDermott, Michael P.;
De Vivo, Darryl C.;
Ewing Garber, Carol;
Montes, Jacqueline

Publication type:

Article

Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States.

Published in:

Muscle & Nerve, 2022, v. 66, n. 1, p. 84, doi. 10.1002/mus.27556

By:

Darras, Basil T.;
Guye, Sabrina;
Hoffart, Janine;
Schneider, Sophie;
Gravestock, Isaac;
Gorni, Ksenija;
Fuerst‐Recktenwald, Sabine;
Scalco, Renata S.;
Finkel, Richard S.;
De Vivo, Darryl C.

Publication type:

Article

Limitations of 6-minute walk test reference values for spinal muscular atrophy.

Published in:

2020

By:

Goodwin, Ashley M.;
Cornett, Kayla M.D.;
McKay, Marnee J.;
Burns, Joshua;
Garber, Carol Ewing;
De Vivo, Darryl C.;
Montes, Jacqueline

Publication type:

journal article

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.

Published in:

2019

By:

Montes, Jacqueline;
Dunaway Young, Sally;
Mazzone, Elena S.;
Pasternak, Amy;
Glanzman, Allan M.;
Finkel, Richard S.;
Darras, Basil T.;
Muntoni, Francesco;
Mercuri, Eugenio;
De Vivo, Darryl C.;
Bishop, Kathie M.;
Schneider, Eugene;
Bennett, C. Frank;
Foster, Richard;
Farwell, Wildon;
CS2 and CS12 Study Groups

Publication type:

journal article

Revised upper limb module for spinal muscular atrophy: 12 month changes.

Published in:

2019

By:

Pera, Maria Carmela;
Coratti, Giorgia;
Mazzone, Elena S.;
Montes, Jacqueline;
Scoto, Mariacristina;
De Sanctis, Roberto;
Main, Marion;
Mayhew, Anna;
Muni Lofra, Robert;
Dunaway Young, Sally;
Glanzman, Allan M.;
Duong, Tina;
Pasternak, Amy;
Ramsey, Danielle;
Darras, Basil;
Day, John W.;
Finkel, Richard S.;
De Vivo, Darryl C.;
Sormani, Maria Pia;
Bovis, Francesca

Publication type:

journal article

Gait assessment with solesound instrumented footwear in spinal muscular atrophy.

Published in:

2017

By:

Montes, Jacqueline;
Zanotto, Damiano;
Dunaway Young, Sally;
Salazar, Rachel;
De Vivo, Darryl C.;
Agrawal, Sunil

Publication type:

journal article

Six-minute walk test is reliable and valid in spinal muscular atrophy.

Published in:

2016

By:

Dunaway Young, Sally;
Montes, Jacqueline;
Kramer, Samantha S.;
Marra, Jonathan;
Salazar, Rachel;
Cruz, Rosangel;
Chiriboga, Claudia A.;
Garber, Carol Ewing;
De Vivo, Darryl C.

Publication type:

journal article

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Published in:

2015

By:

Montes, Jacqueline;
Glanzman, Allan M.;
Mazzone, Elena S.;
Martens, William B.;
Dunaway, Sally;
Pasternak, Amy;
Riley, Susan O;
Quigley, Janet;
Pandya, Shree;
De Vivo, Darryl C;
Kaufmann, Petra;
Chiriboga, Claudia A.;
Finkel, Richard S.;
Tennekoon, Gihan I.;
Darras, Basil T.;
Pane, Marika;
Mercuri, Eugenio;
Mcdermott, Michael P.

Publication type:

journal article

Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.

Published in:

2015

By:

Marra, Jonathan D;
Engelstad, Kristin E;
Ankala, Arunkanth;
Tanji, Kurenai;
Dastgir, Jahannaz;
De Vivo, Darryl C;
Coffee, Bradford;
Chiriboga, Claudia A

Publication type:

journal article

Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 ( TNNT1) gene: A case outside of the old order amish.

Published in:

2015

By:

Marra, Jonathan D.;
Engelstad, Kristin E.;
Ankala, Arunkanth;
Tanji, Kurenai;
Dastgir, Jahannaz;
De Vivo, Darryl C.;
Coffee, Bradford;
Chiriboga, Claudia A.

Publication type:

Other

Reduction of Glut1 in the Neural Retina But Not the RPE Alleviates Polyol Accumulation and Normalizes Early Characteristics of Diabetic Retinopathy.

Published in:

Journal of Neuroscience, 2021, v. 41, n. 14, p. 3275, doi. 10.1523/JNEUROSCI.2010-20.2021

By:

Holoman, Nicholas C.;
Aiello, Jacob J.;
Trobenter, Timothy D.;
Tarchick, Matthew J.;
Kozlowski, Michael R.;
Makowski, Emily R.;
De Vivo, Darryl C.;
Singh, Charandeep;
Sears, Jonathan E.;
Samuels, Ivy S.

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

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

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.

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