STURIALE, LUISELLA

STURIALE, LUISELLA  

Istituto per i Polimeri, Compositi e Biomateriali - IPCB - Sede Secondaria di Catania  

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Risultati 1 - 20 di 75 (tempo di esecuzione: 0.042 secondi).
Titolo Data di pubblicazione Autore(i) File
COG6-CDG: Novel variants and novel malformation 1-gen-2022 Cirnigliaro, L; Bianchi, P; Sturiale, L; Garozzo, D; Mangili, G; Keldermans, L; Rizzo, R; Matthijs, G; Fiumara, A; Jaeken, J; Barone, R
Aberrant sialylation in a patient with a HNF1 alpha variant and liver adenomatosis 1-gen-2021 Sturiale L.; Nassogne M.C.; Palmigiano A.; Messina A.; Speciale I.; Artuso R.; Bertino G.; Revencu N.; Stephenne X.; De Castro C.; Matthijs G.; Barone R.; Jaeken J.; Garozzo D.
SLC35A2-CDG: Novel variant and review 1-gen-2021 Quelhas D.; Correia J.; Jaeken J.; Azevedo L.; LopesMarques M.; Bandeira A.; Keldermans L.; Matthijs G.; Sturiale L.; Martins E.
SLC37A4-CDG: Second patient 1-gen-2021 Wilson, Mp; Quelhas, D; Leaoteles, E; Sturiale, L; Rymen, D; Keldermans, L; Race, V; Souche, E; Rodrigues, E; Campos, T; Van Schaftingen, E; Foulquier, F; Garozzo, D; Matthijs, G; Jaeken, J
Tear N-glycomics in vernal and atopic keratoconjunctivitis 1-gen-2021 Messina, A; Palmigiano, A; Tosto, C; Romeo, Da; Sturiale, L; Garozzo, D; Leonardi, A
MALDI-MS CEREBROSPINAL FLUID (CSF) N-GLYCAN PROFILES IN NEURODEGENERATIVE DISEASES 1-gen-2020 A. Palmigiano; A. Messina; F. Esposito; R. Barone; G. Mostile; A. Nicoletti; L. Sturiale; D. Romeo; C. Sanfilippo; M. Zappia; D. Garozzo
Sighting of unusual glycans 1-gen-2020 Palmigiano, Angelo; Messina, Angela; Sturiale, Luisella; Garozzo, Domenico
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 1-gen-2019 Sturiale L.; Bianca S.; Garozzo D.; Terracciano A.; Agolini E.; Messina A.; Palmigiano A.; Esposito F.; Barone C.; Novelli A.; Fiumara A.; Jaeken J.; Barone R.
Combined mass spectrometry methods for serum N-glycoprotein profiling enhance the awareness of the molecular patho-mechanism in ALG12-CDG 1-gen-2019 Sturiale, L; Bianca, S; Terracciano, A; Agolini, E; Messina, A; Palmigiano, A; Esposito, F; Barone, C; Novelli, A; Fiumara, A; Garozzo, D; Jaeken, J; Barone, R
CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases 1-gen-2019 Messina, A; Palmigiano, A; Bua, Ro; Romeo, Da; Barone, R; Sturiale, L; Zappia, M; Garozzo, D
HILIC-MS based glycomics in the diagnosis of Congenital Disorders of Glycosylation 1-gen-2019 F. Esposito; A. Palmigiano; A. Messina; R. Barone; L. Sturiale; D. Garozzo
Hyperkinetic movement disorders in congenital disorders of glycosylation 1-gen-2019 Mostile, G; Barone, R; Nicoletti, A; Rizzo, R; Martinelli, D; Sturiale, L; Fiumara, A; Jankovic, J; Zappia, M
The cerebrospinal fluid (CSF) N-glycome as a novel biomarker of Parkinson's disease. A mass spectrometry-based CSF n-glycosylation study of patients affected by Parkinson's disease 1-gen-2019 A. Palmigiano; A. Messina; F. Esposito; R. Barone; G. Mostile; A. Nicoletti; L. Sturiale; D.A. Romeo; D. Garozzo; M. Zappia
Advanced LC-MS Methods for N-Glycan Characterization 1-gen-2018 Palmigiano, A; Messina, A; Sturiale, L; Garozzo, D
Biophysical approaches to solve the structures of the complex glycan shield of chloroviruses 1-gen-2018 De Castro, C; Duncan, Ga; Garozzo, D; Molinaro, A; Sturiale, L; Tonetti, M; Van Etten, Jl
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. 1-gen-2017 Calvo, Pier Luigi; Spada, Marco; Rabbone, Ivana; Pinon, Michele; Porta, Francesco; Cisaro, Fabio; Reggiani, Stefania; Cefalo, Angelo B; Sturiale, Luisella; Garozzo, Domenico; Lefeber, Dirk J; Jaeken, Jaak
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG 1-gen-2017 Palmigiano, A; Bua, R O; Barone, R; Rymen, D; Regal, L; Deconinck, N; Dionisivici, C; Fung, C W; Garozzo, D; Jaeken, J; Sturiale, L
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides 1-gen-2017 Pan, Xuefang; Para De Aragao, Camila De Britto; VelascoMartin, Juan P.; Priestman, David A.; Wu, Harry Y.; Takahashi, Kohta; Yamaguchi, Kazunori; Sturiale, Luisella; Garozzo, Domenico; Platt, Frances M.; LamarcheVane, Nathalie; Morales, Carlos R.; Miyagi, Taeko; Pshezhetsky, Alexey V.
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder 1-gen-2016 Barone, R; Sturiale, L; Fiumara, A; Palmigiano, A; Bua, Ro; Rizzo, R; Zappia, M; Garozzo, D
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 1-gen-2015 Barone, Rita; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlina, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, Gert; Jaeken, Jaak; Di Rocco, M; Garozzo, D; Fiumara, A