Disrupted glial metabolism and myelin vulnerability in a mouse model of glucose transporter type 1 deficiency syndrome
Sophie Burlet-Godinot, Hubert Fiumelli, Andreea Hertanu, Daphné Vorburger et autres
0 citationsNeurobiology of Disease
Darryl C. De Vivo
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
607Publications signalées
30274Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Neurogenetic and Muscular Disorders ResearchMetabolism and Genetic DisordersDiet and metabolism studiesMitochondrial Function and PathologyRNA modifications and cancer
Publications récentes
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity
Owen S. Skinner, Maria Miranda, Fangcong Dong, Tessa Struhl et autres
1 citationbioRxiv (Cold Spring Harbor Laboratory)
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts
Amy Pasternak, Michael P. McDermott, Jacqueline Montes, Allan M. Glanzman et autres
4 citationsNeurology
Obituary: Abe M. Chutorian, MD
Nigel S. Bamford, Darryl C. De Vivo
0 citationsPediatric Neurology
Predicting Stroke-Like Episodes in the “MELAS” m.3243A>G Pathogenic Variant. (P2-13.011)
Valentina Emmanuele, Zihan Tang, Kristin Engelstad, Vincent Huynh et autres
0 citationsNeurology
MTOR Inhibition, a Potential Treatment for Leigh Syndrome? Report of Three Cases. (P10-6.002)
Valentina Emmanuele, Alexander Goldberg, Kristin Engelstad, Linn Katus et autres
0 citationsNeurology
A therapeutic role for a regulatory glucose transporter1 (Glut1)-associated natural antisense transcript
Maoxue Tang, Yueqing Peng, Peter Canoll, Jeffrey N. Bruce et autres
2 citationsbioRxiv (Cold Spring Harbor Laboratory)
Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy
Christian M. Simon, Nicolas Delestrée, Leonie Sowoidnich, Florian Gerstner et autres
12 citationsBrain
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy
Rafael Rodriguez‐Torres, Cara H. Kanner, Emma Gay, David Uher et autres
6 citationsJournal of Neuromuscular Diseases
The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy
C. Simone Sutherland, S. Schneider, Valerie Aponte Ribero, Alex Simpson et autres
3 citationsNeuromuscular Disorders
Reply to: Comment on De Giorgis et al. “Randomized Phase 3 Study of Triheptanoin for Glut1 Deficiency Syndrome–Associated Paroxysmal Movement Disorders”
Valentina De Giorgis, Darryl C. De Vivo
0 citationsMovement Disorders
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
Eduardo F. Tizzano, Susana Quijano-Roy, Laurent Servais, Julie Parsons et autres
12 citationsEuropean Journal of Paediatric Neurology
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