Valentina Emmanuele
Valentina Emmanuele
Dirección de correo verificada de columbia.edu
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Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants
D Paull, V Emmanuele, KA Weiss, N Treff, L Stewart, H Hua, M Zimmer, ...
Nature 493 (7434), 632-637, 2013
2532013
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, ...
Archives of neurology 69 (8), 978-983, 2012
1992012
Genetic drift can compromise mitochondrial replacement by nuclear transfer in human oocytes
M Yamada, V Emmanuele, MJ Sanchez-Quintero, B Sun, G Lallos, ...
Cell stem cell 18 (6), 749-754, 2016
1212016
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
C Garone, B Garcia‐Diaz, V Emmanuele, LC Lopez, S Tadesse, ...
EMBO molecular medicine 6 (8), 1016-1027, 2014
882014
Emerging therapies for mitochondrial diseases
M Hirano, V Emmanuele, CM Quinzii
Essays in biochemistry 62 (3), 467-481, 2018
742018
Natural underlying mt DNA heteroplasmy as a potential source of intra‐person hi PSC variability
E Perales‐Clemente, AN Cook, JM Evans, S Roellinger, F Secreto, ...
The EMBO journal 35 (18), 1979-1990, 2016
662016
Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice
CM Quinzii, C Garone, V Emmanuele, S Tadesse, S Krishna, B Dorado, ...
The FASEB Journal 27 (2), 612-621, 2013
572013
Clinical presentations of coenzyme q10 deficiency syndrome
CM Quinzii, V Emmanuele, M Hirano
Molecular syndromology 5 (3-4), 141-146, 2014
372014
A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike …
V Emmanuele, E Sotiriou, PG Rios, J Ganesh, R Ichord, AR Foley, ...
Journal of child neurology 28 (2), 236-242, 2013
342013
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation
B Garcia-Diaz, MH Barros, S Sanna-Cherchi, V Emmanuele, HO Akman, ...
The American Journal of Human Genetics 91 (4), 729-736, 2012
332012
MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m. 3291T> C mutation
V Emmanuele, DS Silvers, E Sotiriou, K Tanji, S DiMAURO, M Hirano
Muscle & nerve 44 (3), 448-451, 2011
332011
Homotoxicological remedies versus desmopressin versus placebo in the treatment of enuresis: a randomised, double-blind, controlled trial
P Ferrara, G Marrone, V Emmanuele, A Nicoletti, A Mastrangelo, E Tiberi, ...
Pediatric nephrology 23 (2), 269-274, 2008
332008
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
E Barca, RD Ganetzky, P Potluri, M Juanola-Falgarona, X Gai, D Li, ...
Human molecular genetics 27 (19), 3305-3312, 2018
312018
A novel mouse model that recapitulates adult-onset glycogenosis type 4
H Orhan Akman, V Emmanuele, YG Kurt, B Kurt, T Sheiko, S DiMauro, ...
Human molecular genetics 24 (23), 6801-6810, 2015
212015
CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway
G Kleiner, E Barca, M Ziosi, V Emmanuele, Y Xu, A Hidalgo-Gutierrez, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (11 …, 2018
202018
Mitochondrial diseases in North America: an analysis of the NAMDC registry
E Barca, Y Long, V Cooley, R Schoenaker, V Emmanuele, S DiMauro, ...
Neurology Genetics 6 (2), 2020
192020
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation
V Emmanuele, E Sotiriou, M Shirazi, K Tanji, RG Haller, K Heinicke, ...
Journal of the neurological sciences 303 (1-2), 39-42, 2011
182011
Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS
V Emmanuele, A Garcia-Cazorla, HB Huang, J Çoku, B Dorado, ...
Journal of the neurological sciences 317 (1-2), 29-34, 2012
172012
Retinopathy screening in patients with type 1 diabetes diagnosed in young age using a non-mydriatic digital stereoscopic retinal imaging
N Minuto, V Emmanuele, M Vannati, C Russo, C Rebora, S Panarello, ...
Journal of endocrinological investigation 35 (4), 389-394, 2012
172012
Mothers with their babies in prison: the first Italian experience
P Ferrara, V Emmanuele, A Nicoletti, A Mastrangelo, G Marrone, ...
Archives of disease in childhood 92 (2), 183-183, 2007
172007
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