Search Results - "Martucci, Lucía"

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies by Martucci, Lucía C., Gutiérrez, Mariana L., Karabatas, Liliana M., Scaglia, Paula A., Rey, Rodolfo A., Domené, Horacio M., Jasper, Héctor G., Domené, Sabina

“…Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients…”
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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations by Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Di Giovanni, Daniela, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Yayah Jones, Nana-Hawa, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio

“…Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe…”
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II - Insulin processing in mitochondria by Camberos, María del Carmen, Pérez, Adriana A., Passicot, Gisel A., Martucci, Lucía C., Wanderley, María I., Udrisar, Daniel P., Cresto, Juan C.

“…Our objective was to know how insulin is processing in mitochondria; if IDE is the only participant in mitochondrial insulin degradation and the role of…”
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Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency by Scaglia, Paula A., Keselman, Ana C., Braslavsky, Débora, Martucci, Lucía C., Karabatas, Liliana M., Domené, Sabina, Gutiérrez, Mariana L., Ballerini, María G., Ropelato, María G., Spinola‐Castro, Angela, Siviero‐Miachon, Adriana A., Tartuci, Juliana Saito, Rodríguez Azrak, María Sol, Rey, Rodolfo A., Jasper, Héctor G., Bergadá, Ignacio, Domené, Horacio M.

“…Summary Objective Acid‐labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in…”
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Changes in hepatic lipogenic and oxidative enzymes and glucose homeostasis induced by an acetyl-l-carnitine and nicotinamide treatment in dyslipidaemic insulin-resistant rats by Ferreira, Maria R, Camberos, Maria del C, Selenscig, Dante, Martucci, Lucía C, Chicco, Adriana, Lombardo, Yolanda B, Cresto, Juan C

“…Summary Normal rats fed a sucrose‐rich diet (SRD) develop dyslipidaemia and insulin resistance. The present study examined whether administration of the…”
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Cortical hyper‐excitability in healthy children: evidence from habituation and recovery cycle phenomena of somatosensory evoked potentials by Zanini, Sergio, Martucci, Lucia, Del Piero, Ivana, Restuccia, Domenico

“…Aim To compare neurophysiological parameters of central nervous system excitability in healthy children/adolescents with those of healthy adults. Method Two…”
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High frequency oscillations after median nerve stimulations in healthy children and adolescents by Zanini, Sergio, Del Piero, Ivana, Martucci, Lucia, Restuccia, Domenico

“…•Healthy children/adolescents have smaller presynaptic than postsynaptic high frequency oscillations amplitudes.•Healthy children/adolescents have smaller…”
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Patterns of habituation and clinical fluctuations in migraine by Restuccia, Domenico, Vollono, Catello, Virdis, Daniela, del Piero, Ivana, Martucci, Lucia, Zanini, Sergio

“…Habituation deficit, suggesting a deregulation of cortical excitability, represents a typical hallmark of interictal stages of migraine. We previously…”
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Somatosensory mismatch negativity in healthy children by RESTUCCIA, DOMENICO, ZANINI, SERGIO, CAZZAGON, MONICA, DEL PIERO, IVANA, MARTUCCI, LUCIA, DELLA MARCA, GIACOMO

“…Aim  Event‐related potentials (ERPs) obtained when focused attention is kept away from the stimulus (unnoticed stimulation) are possibly linked to automatic…”
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Children at risk of diabetes type 1. Treatment with acetyl-L-carnitine plus nicotinamide - case reports by Fernandez, Ivana Cristina, Del Carmen Camberos, María, Passicot, Gisel Anabel, Martucci, Lucía Camila, Cresto, Juan Carlos

“…Abstract Objectives: The aim was to evaluate the treatment with acetyl-L-carnitine (50 mg/kg/day) and nicotinamide (25 mg/kg/day) in children at risk of type 1…”
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Visual and vestibular functioning, and age and surgery effects on postural control in healthy children with vertical strabismus by Zanini, Sergio, Cordaro, Claudia, Martucci, Lucia, Del Piero, Ivana, Geotti, Simonetta, Makuc, Marta, Csillaghy, Annalisa, Godio, Marina, Cazzagon, Monica

“…Purpose: To describe visual and vestibular functioning and the effects of age and surgery effects on postural control in healthy children with vertical…”
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Obsessive-Compulsive Disorder, PANDAS, and Tourette Syndrome: Immuno-inflammatory Disorders by Marazziti, Donatella, Palermo, Stefania, Arone, Alessandro, Massa, Lucia, Parra, Elisabetta, Simoncini, Marly, Martucci, Lucia, Beatino, Maria Francesca, Pozza, Andrea

“…In the last years, much focus has been given to the possible role of inflammatory and immunologic alterations in the pathophysiology of obsessive-compulsive…”
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Somatosensory High Frequency Oscillations reflect clinical fluctuations in migraine by Restuccia, Domenico, Vollono, Catello, Del Piero, Ivana, Martucci, Lucia, Zanini, Sergio

“…Highlights ► High Frequency Oscillations (HFOs) changes were recorded in 28 migraine patients and correlated to spontaneous clinical fluctuations. ►…”
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Different levels of cortical excitability reflect clinical fluctuations in migraine by Restuccia, Domenico, Vollono, Catello, del Piero, Ivana, Martucci, Lucia, Zanini, Sergio

“…In a previous study we demonstrated that high-frequency oscillations (HFOs) elicited by median nerve stimulation are significantly correlated to clinical…”
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High-frequency oscillations after median-nerve stimulation do not undergo habituation: A new insight on their functional meaning? by Restuccia, Domenico, Piero, Ivana Del, Martucci, Lucia, Zanini, Sergio

“…Abstract Objective Amplitude decrease of cortical responses after repeated stimuli (‘habituation’) is a well-known phenomenon, the functional meaning of which…”
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