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1

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

Finkel, Richard S, Chiriboga, Claudia A, Vajsar, Jiri, Day, John W, Montes, Jacqueline, De Vivo, Darryl C, Yamashita, Mason, Rigo, Frank, Hung, Gene, Schneider, Eugene, Norris, Daniel A, Xia, Shuting,

Journal:

Year:

2016

Language:

english

File:

PDF, 2.52 MB

english, 2016

2

Fatigue leads to gait changes in spinal muscular atrophy

Jacqueline Montes, Sally Dunaway, Megan J. Montgomery, Douglas Sproule, Petra Kaufmann, Darryl C. De Vivo, Ashwini K. Rao

Journal:

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

3

Falls and spinal muscular atrophy: Exploring cause and prevention

Montes, Jacqueline, Mcisaac, Tara L., Dunaway, Sally, Kamil-Rosenberg, Shirit, Sproule, Douglas, Garber, Carol Ewing, De vivo, Darryl C., Rao, Ashwini K.

Journal:

Year:

2013

Language:

english

File:

PDF, 241 KB

english, 2013

4

Leg muscle function and fatigue during walking in spinal muscular atrophy type 3

Montes, Jacqueline, Dunaway, Sally, Garber, Carol Ewing, Chiriboga, Claudia A., De Vivo, Darryl C., Rao, Ashwini K.

Journal:

Year:

2014

Language:

english

File:

PDF, 100 KB

english, 2014

5

Reply

Kang, Peter B., Gooch, Clifton L., McDermott, Michael P., Darras, Basil T., Finkel, Richard S., Yang, Michele L., Sproule, Douglas M., Chung, Wendy K., Kaufmann, Petra, De Vivo, Darryl C.

Journal:

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

6

Performance of the timed “up & go” test in spinal muscular atrophy

Dunaway, Sally, Montes, Jacqueline, Garber, Carol Ewing, Carr, Brendan, Kramer, Samantha S., Kamil-Rosenberg, Shirit, Strauss, Nancy, Sproule, Douglas, De Vivo, Darryl C.

Journal:

Year:

2014

Language:

english

File:

PDF, 109 KB

english, 2014

7

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

Kang, Peter B., Gooch, Clifton L., McDermott, Michael P., Darras, Basil T., Finkel, Richard S., Yang, Michele L., Sproule, Douglas M., Chung, Wendy K., Kaufmann, Petra, de Vivo, Darryl C.

Journal:

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

8

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

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, Chiri

Journal:

Year:

2015

Language:

english

File:

PDF, 135 KB

english, 2015

9

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

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

Journal:

Year:

2015

Language:

english

File:

PDF, 371 KB

english, 2015

10

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 859 KB

2020

11

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

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

Journal:

Journal of Clinical Laboratory Analysis

Year:

1999

Language:

english

File:

PDF, 98 KB

english, 1999

12

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

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

Journal:

Year:

2000

Language:

english

File:

PDF, 328 KB

english, 2000

13

Solving the COX Puzzle

Darryl C. De Vivo

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

14

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis

Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, Kristin Engelstad, Sarah Jhung, Jiesheng Lu, Ali Naini, Dr. Salvatore DiMauro, Darryl C. De Vivo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 102 KB

english, 2004

15

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, Ying Wei, Jorida Coku, Kristin Engelstad, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 144 KB

english, 2009

16

Imaging the metabolic footprint of Glut1 deficiency on the brain

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

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.07 MB

english, 2002

17

Foreword

Darryl C. De Vivo, Michael V. Johnston

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 36 KB

english, 2003

18

Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy

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

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.18 MB

english, 2001

19

Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

Dong Wang, Juan M. Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C. De Vivo

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

20

Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency

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

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 796 KB

english, 2010

21

Eulogy for Philip R. Dodge, MD, March 16, 1923–August 30, 2009

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 98 KB

english, 2010

22

Childhood absence epilepsy as a manifestation of GLUT1 deficiency

Michael Rotstein, Darryl C. De Vivo

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 65 KB

english, 2010

23

Glut1 deficiency: Inheritance pattern determined by haploinsufficiency

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

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

24

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

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

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 468 KB

english, 2011

25

Cholesterol and phospholipids in cultured skin fibroblasts from patients with dystonia

Dr William A. Maltese, Darryl C. De Vivo

Journal:

Annals of Neurology

Year:

1984

Language:

english

File:

PDF, 316 KB

english, 1984

26

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

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

Journal:

Annals of Neurology

Year:

1984

Language:

english

File:

PDF, 1.05 MB

english, 1984

27

Reply

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

Journal:

Annals of Neurology

Year:

1985

Language:

english

File:

PDF, 99 KB

english, 1985

28

Cerebrospinal fluid polyamines: Biochemical markers of malignant childhood brain tumors

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

Journal:

Annals of Neurology

Year:

1986

Language:

english

File:

PDF, 513 KB

english, 1986

29

Reply

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

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 125 KB

english, 1987

30

Brain infarction in sickle cell anemia: Magnetic resonance imaging correlates

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

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 574 KB

english, 1988

31

Reply

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

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 131 KB

english, 1988

32

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

Susan E. Old, Dr Darryl C. de Vivo

Journal:

Annals of Neurology

Year:

1989

Language:

english

File:

PDF, 640 KB

english, 1989

33

Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis

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

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 457 KB

english, 1990

34

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

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

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 656 KB

english, 1994

35

Genetic heterogeneity in leigh syndrome

Salvatore Dimauro, Darryl C. de Vivo

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 302 KB

english, 1996

36

Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome

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

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 172 KB

english, 1998

37

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

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

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

38

The spectrum of movement disorders in Glut-1 deficiency

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

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

39

EEG Features of Glut-1 Deficiency Syndrome

Arpad Von Moers, Knut Brockmann, Dong Wang, Christoph G. Korenke, Peter Huppke, Darryl C. De Vivo, Folker Hanefeld

Journal:

Year:

2002

Language:

english

File:

PDF, 263 KB

english, 2002

40

Seizure Characterization and Electroencephalographic Features in Glut-1 Deficiency Syndrome

Linda D. Leary, Dong Wang, Douglas R. Nordli Jr., Kristin Engelstad, Darryl C. De Vivo

Journal:

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

41

Cerebral energy failure

Darryl C. De Vivo

Journal:

Current Neurology and Neuroscience Reports

Year:

2001

Language:

english

File:

PDF, 50 KB

english, 2001

42

Mitochondrial disease

Roser Pons, Darryl C. De Vivo

Journal:

Current Treatment Options in Neurology

Year:

2001

Language:

english

File:

PDF, 849 KB

english, 2001

43

The Ketogenic Diet Revisited: Back to the Future

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

Journal:

Year:

1997

Language:

english

File:

PDF, 689 KB

english, 1997

44

l-Carnitine Supplementation in Childhood Epilepsy: Current Perspectives

Darryl C. De Vivo, Timothy P. Bohan, David L. Coulter, Fritz E. Dreifuss, Robert S. Greenwood, Douglas R. Nordli Jr., W. Donald Shields, Carl E. Stafstrom, Ingrid Tein

Journal:

Year:

1998

Language:

english

File:

PDF, 1.22 MB

english, 1998

45

Hemodynamic etiology of elevated flow velocity and stroke in sickle-cell disease

Prohovnik, Isak, Hurlet-Jensen, Anne, Adams, Robert, De Vivo, Darryl, Pavlakis, Steven G

Journal:

Journal of Cerebral Blood Flow and Metabolism

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

46

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

Seidner, Glen, Alvarez, Marcela Garcia, Yeh, Jih-I, O'Driscoll, Kevin R., Klepper, Jörg, Stump, Tammy S., Wang, Dong, Spinner, Nancy B., Birnbaum, Morris J., De Vivo, Darryl C.

Journal:

Nature Genetics

Year:

1998

File:

PDF, 545 KB

1998

47

Defective Glucose Transport Across Brain Tissue Barriers: A Newly Recognized Neurological Syndrome

Jörg Klepper, Dong Wang, Jorge Fischbarg, Juan Carlos Vera, Imad T. Jarjour, Kevin R. O'Driscoll, Darryl C. De Vivo

Journal:

Neurochemical Research

Year:

1999

Language:

english

File:

PDF, 1.57 MB

english, 1999

48

Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?

Tuan H. Vu, Kurenai Tanji, Stephen A. Holve, Eduardo Bonilla, Ronald J. Sokol, Russell D. Snyder, Stephany Fiore, Gail H. Deutsch, Salvatore DiMauro, Darryl De Vivo

Journal:

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

49

Leigh syndrome: Historical perspective and clinical variations

Darryl C. De Vivo

Journal:

Year:

1998

Language:

english

File:

PDF, 24 KB

english, 1998

50

Cardiac size and function during adrenocorticotropic hormone-induced systolic systemic hypertension in infants

Thomas J. Starc, Fredrick Z. Bierman, Steven G. Pavlakis, Margaret E. Challenger, Darryl C. De Vivo, Welton M. Gersony

Journal:

The American Journal of Cardiology

Year:

1994

Language:

english

File:

PDF, 825 KB

english, 1994

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