de Vivo, Darryl C.: search on Z-Library

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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

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

3

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

4

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

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

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

CSF glucose and lactate values in neurometabolic diseases

Marcela Garcia-Alvarez, Rosario R. Trifiletti, Darryl C. De Vivo

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 120 KB

english, 1994

15

Valproic acid impairs carnitine uptake in cultured human skin fibroblasts: In vitro model for pathogenesis of valproate-induced secondary carnitine deficiency

Tein, Ingrid, DiMauro, Salvatore, Xie, Wynne, De Vivo, Darryl C.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 130 KB

english, 1992

16

Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment

Akman, Cigdem Inan, Yu, Julia, Alter, Aliza, Engelstad, Kristin, De Vivo, Darryl C.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 733 KB

english, 2016

17

Exploring mTOR inhibition as treatment for mitochondrial disease

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

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 276 KB

english, 2019

18

Cerebral energy failure

Darryl C. De Vivo

Journal:

Current Neurology and Neuroscience Reports

Year:

2001

Language:

english

File:

PDF, 50 KB

english, 2001

19

Three Japanese patients with glucose transporter type 1 deficiency syndrome

Tatsuya Fujii, Yuan-Yuan Ho, Dong Wang, Darryl C. De Vivo, Tomoko Miyajima, Hei-Yi Wong, Po-Ting Tsang, Yukiyoshi Shirasaka, Takashi Kudo, Masatoshi Ito

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 476 KB

english, 2007

20

Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?

Jörg Klepper, Darryl C De Vivo, David W Webb, Lars Klinge, Thomas Voit

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

21

Functional Studies of the T295M Mutation Causing Glut1 Deficiency: Glucose Efflux Preferentially Affected by T295M

Wang, Dong, Yang, Hong, Shi, Lei, Ma, Li, Fujii, Tatsuya, Engelstad, Kristin, Pascual, Juan M, De Vivo, Darryl C

Journal:

Pediatric Research

Year:

2008

Language:

english

File:

PDF, 792 KB

english, 2008

22

Neonatal Blood Carnitine Concentrations: Normative Data by Electrospray Tandem Mass Spectometry

Chace, Donald H, Pons, Roser, Chiriboga, Claudia A, McMahon, Donald J, Tein, Ingrid, Naylor, Edwin W, De Vivo, Darryl C

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 136 KB

english, 2003

23

Primary and Secondary Carnitine Deficiency Syndromes

Pons, Roser, De Vivo, Darryl C.

Journal:

Journal of Child Neurology

Year:

1995

Language:

english

File:

PDF, 1.92 MB

english, 1995

24

Therapeutic strategies for glucose transporter 1 deficiency syndrome

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

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 3.96 MB

english, 2019

25

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

26

Leigh syndrome: Historical perspective and clinical variations

Darryl C. De Vivo

Journal:

Year:

1998

Language:

english

File:

PDF, 24 KB

english, 1998

27

Chronic ACTH treatment increases striatal dopamine D-2 receptor binding in developing rat brain

Chiriboga, Claudia A, Pranzatelli, Michael R, De Vivo, Darryl C

Journal:

Brain and Development

Year:

1989

Language:

english

File:

PDF, 415 KB

english, 1989

28

Neurologic Manifestations of Congenital Infection

Kairam, Ram, De Vivo, Darryl C.

Journal:

Clinics in Perinatology

Year:

1981

File:

PDF, 452 KB

1981

29

Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome

Magrinelli, Francesca, Mulroy, Eoin, Schneider, Susanne A., Latorre, Anna, Di Lazzaro, Giulia, Hennig, Anita, Grunewald, Stephanie, De Vivo, Darryl C., Bhatia, Kailash P.

Journal:

Year:

2020

File:

PDF, 2.28 MB

2020

30

Neonatal presentations of mitochondrial metabolic disorders

Carolyn M. Sue, Michio Hirano, Salvatore DiMauro, Darryl C. De Vivo

Journal:

Seminars in Perinatology

Year:

1999

Language:

english

File:

PDF, 1.84 MB

english, 1999

31

[International Review of Neurobiology] Glucose Metabolism in the Brain Volume 51 || Glucose transporter protein syndromes

De Vivo, Darryl C.

Year:

2002

Language:

english

File:

PDF, 10.55 MB

english, 2002

32

Hypocitrullinemia in patients with MELAS: an insight into the “MELAS paradox”

Ali Naini, Petra Kaufmann, Sara Shanske, Kristin Engelstad, Darryl C. De Vivo, Eric A. Schon

Journal:

Journal of the Neurological Sciences

Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

33

Nerve Conduction Abnormalities in Patients With MELAS and the A3243G Mutation

Kaufmann, Petra, Pascual, Juan M., Anziska, Yaacov, Gooch, Clifton L., Engelstad, Kristin, Jhung, Sarah, DiMauro, Salvatore, De Vivo, Darryl C.

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

34

Pharmacology of Reye Syndrome

Pranzatelli, Michael R., De Vivo, Darryl C.

Journal:

Clinical Neuropharmacology

Year:

1987

File:

PDF, 1.81 MB

1987

35

Diagnostic Approach to Metabolic Encephalopathies

De Vivo, Darryl C.

Journal:

Journal of Child Neurology

Year:

1999

Language:

english

File:

PDF, 277 KB

english, 1999

36

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

37

Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE −/− MiceNovelty and Significance

Sarrazy, Vincent, Viaud, Manon, Westerterp, Marit, Ivanov, Stoyan, Giorgetti-Peraldi, Sophie, Guinamard, Rodolphe, Gautier, Emmanuel L., Thorp, Edward B., De Vivo, Darryl C., Yvan-Charvet, Laurent

Journal:

Circulation Research

Year:

2016

Language:

english

File:

PDF, 2.54 MB

english, 2016

38

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

Lyon, Gholson J, Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C, Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana

Journal:

Molecular Case Studies

Year:

2019

Language:

english

File:

PDF, 210 KB

english, 2019

39

Therapeutic strategies for glucose transporter 1 deficiency syndrome

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

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

File:

PDF, 3.96 MB

2019

40

Infantile encephalopathy associated with the MELAS A3243G mutation

Carolyn M. Sue, Claudio Bruno, Antonio L. Andreu, Abba Cargan, Jerry R. Mendell, Chang-Yong Tsao, Mark Luquette, Juliann Paolicchi, Sara Shanske, Salvatore DiMauro, Darryl C. De Vivo

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

41

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA

Charalampos L Karadimas, Leonardo Salviati, Sabrina Sacconi, Penelope Chronopoulou, Sara Shanske, Eduardo Bonilla, Darryl C De Vivo, Salvatore DiMauro

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002

42

The expanding clinical spectrum of mitochondrial diseases

De Vivo, Darryl C.

Journal:

Brain and Development

Year:

1993

Language:

english

File:

PDF, 2.24 MB

english, 1993

43

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

44

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

45

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

46

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

47

Murine Glut-1 transporter haploinsufficiency: Postnatal deceleration of brain weight and reactive astrocytosis

Paivi M. Ullner, Alessia Di Nardo, James E. Goldman, Scott Schobel, Hong Yang, Kristin Engelstad, Dong Wang, Mustafa Sahin, Darryl C. De Vivo

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

48

Reliability of telephone administration of the PedsQL™ Generic Quality of Life Inventory™ and Neuromuscular Module™ in spinal muscular atrophy (SMA)

Sally Dunaway, Jacqueline Montes, Megan Montgomery, Vanessa Battista, Benjamin Koo, Jonathan Marra, Darryl C. De Vivo, Linda S. Hynan, Susan T. Iannaccone, Petra Kaufmann

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

49

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

Sacconi, Sabrina, Salviati, Leonardo, Sue, Carolyn M, Shanske, Sara, Davidson, Mercy M, Bonilla, Eduardo, Naini, Ali B, De Vivo, Darryl C, Dimauro, Salvatore

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 354 KB

english, 2003

50

Clinical Spectrum of Mitochondrial DNA Depletion Due to Mutations in the Thymidine Kinase 2 Gene

Oskoui, Maryam, Davidzon, Guido, Pascual, Juan, Erazo, Ricardo, Gurgel-Giannetti, Juliana, Krishna, Sindu, Bonilla, Eduardo, De Vivo, Darryl C., Shanske, Sara, DiMauro, Salvatore

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 179 KB

english, 2006

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