Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond

Por Monani, Umrao R, De Vivo, Darryl C
Publicado em 2014

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes: a case report and critical reappraisal of treatment options

Por Fryer, Robert H., Bain, Jennifer, De Vivo, Darryl
Publicado no Pediatr Neurol (2015)

Maternal Calorie Restriction Causing Uteroplacental Insufficiency Differentially Affects Mammalian Placental Glucose and Leucine Transport Molecular Mechanisms

Por Ganguly, Amit, Touma, Marlin, Thamotharan, Shanthie, De Vivo, Darryl C., Devaskar, Sherin U.
Publicado no Endocrinology (2016)

Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy

Por HINTON, VERONICA J., DE VIVO, DARRYL C., NEREO, NANCY E., GOLDSTEIN, EDWARD, STERN, YAAKOV
Publicado em 2001

Hypoalaninemia: a concomitant of ketotic hypoglycemia

Por Pagliara, Anthony S., Karl, Irene E., De Vivo, Darryl C., Feigin, Ralph D., Kipnis, David M.
Publicado em 1972

Delayed Developmental Language Milestones in Children with Duchenne’s Muscular Dystrophy

Por Cyrulnik, Shana E., Fee, Robert J., De Vivo, Darryl C., Goldstein, Edward, Hinton, Veronica J.
Publicado em 2007

Structural Signatures and Membrane Helix 4 in GLUT1: INFERENCES FROM HUMAN BLOOD-BRAIN GLUCOSE TRANSPORT MUTANTS

Por Pascual, Juan M., Wang, Dong, Yang, Ru, Shi, Lei, Yang, Hong, De Vivo, Darryl C.
Publicado em 2008

Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency

Por Rotstein, Michael, Engelstad, Kristin, Yang, Hong, Wang, Dong, Levy, Brynn, Chung, Wendy K., De Vivo, Darryl C.
Publicado em 2010

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

Por Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, De Vivo, Darryl C., DiMauro, Salvatore
Publicado em 2013

CoQ(10) Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

Por Barca, Emanuele, Tang, Maoxue, Kleiner, Giulio, Engelstad, Kristin, DiMauro, Salvatore, Quinzii, Catarina M., De Vivo, Darryl C.
Publicado no JIMD Rep (2015)

The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival

Por Wang, Dong, Yang, Hong, De Braganca, Kevin C., Lu, Jiesheng, Yu Shih, Ling, Briones, Paz, De Vivo, Darryl C.
Publicado em 2008

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers

Por Weiduschat, Nora, Kaufmann, Petra, Mao, Xiangling, Engelstad, Kristin Marie, Hinton, Veronica, DiMauro, Salvatore, De Vivo, Darryl, Shungu, Dikoma
Publicado em 2014

Longitudinal Changes of mtDNA A3243G Mutation Load and Level of Functioning in MELAS

Por Mehrazin, Mahsa, Shanske, Sara, Kaufmann, Petra, Wei, Ying, Coku, Jorida, Engelstad, Kristin, Naini, Ali, De Vivo, Darryl C, DiMauro, Salvatore
Publicado em 2009

Increased fat mass and high incidence of overweight despite low body mass index in patients with Spinal Muscular Atrophy

Por Sproule, Douglas M., Montes, Jacqueline, Montgomery, Megan, Battista, Vanessa, Koenigsberger, Dorcas, Shen, Wei, Punyanitya, Mark, De Vivo, Darryl C., Kaufmann, Petra
Publicado em 2009

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

Por Ullner, Paivi M., Di Nardo, Alessia, Goldman, James E., Schobel, Scott, Yang, Hong, Engelstad, Kristin, Wang, Dong, Sahin, Mustafa, De Vivo, Darryl C.
Publicado em 2009

Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency

Por Sadat, Roa, Barca, Emanuele, Masand, Ruchi, Donti, Taraka, Naini, Ali, De Vivo, Darryl C., DiMauro, Salvatore, Hanchard, Neil A., Graham, Brett H.
Publicado no Mol Genet Metab (2016)

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

Por Chiriboga, Claudia A., Swoboda, Kathryn J., Darras, Basil T., Iannaccone, Susan T., Montes, Jacqueline, De Vivo, Darryl C., Norris, Daniel A., Bennett, C. Frank, Bishop, Kathie M.
Publicado no Neurology (2016)

Disruption of Glut1 in Hematopoietic Stem Cells Prevents Myelopoiesis and Enhanced Glucose Flux in Atheromatous Plaques of ApoE(−/−) Mice

Por 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
Publicado no Circ Res (2016)

Decreased hippocampal expression of Calbindin D(28K) and cognitive impairment in MELAS

Por Emmanuele, Valentina, Garcia-Cazorla, Angels, Huang, Hua-Bin, Çoku, Jorida, Dorado, Beatriz, Cortes, Etty P, Engelstad, Kristin, De Vivo, Darryl C., DiMauro, Salvatore, Bonilla, Eduardo, Tanji, Kurenai
Publicado em 2012

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

Por Montes, Jacqueline, Garber, Carol Ewing, Kramer, Samantha S., Montgomery, Megan J., Dunaway, Sally, Kamil-Rosenberg, Shirit, Carr, Brendan, Cruz, Rosangel, Strauss, Nancy E., Sproule, Douglas, De Vivo, Darryl C.
Publicado no J Neuromuscul Dis (2015)