STURIALE, LUISELLA
STURIALE, LUISELLA
Istituto per i Polimeri, Compositi e Biomateriali - IPCB - Sede Secondaria di Catania
CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer’s Disease
2024 Messina, Angela; Barone, Rita; Sturiale, L.; Zappia, Mario; Palmigiano, Angelo; Garozzo, Domenico
CSF N-Glycomics Using MALDI MS Techniques
2024 Messina, A.; Romeo, D. A.; Barone, R.; Sturiale, L.; Palmigiano, A.; Zappia, M.; Garozzo, D.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
2024 Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
2023 Fiumara, A; Sapuppo, A; Ferri, L; Arena, A; Prato, A; Garozzo, D; Sturiale, L; Morrone, A; Barone, R
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function
2023 Da Silva, A; Dort, J; Orfi, Z; Pan, X; Huang, S; Kho, I; Heckel, E; Muscarnera, G; van Vliet, P. P.; Sturiale, L; Messina, A; Romeo, D. A; van Karnebeek, C. D. M.; Wen, X-Y; Hinek, A; Molina, T; Andelfinger, G; Ellezam, B; Yamanaka, Y; Olivos, H J.; Morales, C. R.; Joyal, J-S; Lefeber, D. J.; Garozzo, D; Dumont, N. A.; Pshezhetsky, A
Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption
2023 Kho, I; Demina, E. P; Pan, X; Londono, I; Cairo, C W; Sturiale, L; Palmigiano, A; Messina, A; Garozzo, D; Ung, R-V; Mac-Way, F; Bonneil, É; Thibault, P; Lemaire, M; Morales, C R; Pshezhetsky, A. V
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
2022 Wilson, M P; Durin, Z; Unal, O; Ng, B G; Marrecau, T; Keldermans, L; Souche, E; Rymen, D; Gunduz, M; Kose, G; Sturiale, L; Garozzo, D; Freeze, H H; Jaeken, J; Foulquier, F; Matthijs, G.
COG6-CDG: Novel variants and novel malformation
2022 Cirnigliaro, L; Bianchi, P; Sturiale, L; Garozzo, D; Mangili, G; Keldermans, L; Rizzo, R; Matthijs, G; Fiumara, A; Jaeken, J; Barone, R
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
2022 Guerrini, R; Mei, D; Kerti-Szigeti, K; Pepe, S; Koenig, M K; Von Allmen, G; Cho, M T.; Mcdonald, K; Baker, J; Bhambhani, V; Powis, Z; Rodan, L; Nabbout, R; Barcia, G; Rosenfeld, J A.; Bacino, C A.; Mignot, C; Power, L H.; Harris, C J.; Marjanovic, D; Moller, R S.; Hammer, T B.; Keski Filppula, R; Vieira, P; Hildebrandt, C; Sacharow, S; Maragliano, L; Benfenati, F; Lachlan, K; Benneche, A; Petit, F; de Sainte A, Jean-Madeleine; H, Barbara; Si, Y; Wentzensen, I M.; Zou, F; Narayanan, V; Matsumoto, N; Boncristiano, A; la Marca, G; Kato, M; Anderson, K; Barba, C; Sturiale, L; Garozzo, D; Bei, R; Masuelli, L; Conti, V; Novarino, G; Fassio, A
Aberrant sialylation in a patient with a HNF1 alpha variant and liver adenomatosis
2021 Sturiale, L; Nassogne, Mc; 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
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
2021 Pettinato, F; Mostile, G; Battini, R; Martinelli, D; Madeo, A; Biamino, E; Frattini, D; Garozzo, D; Gasperini, S; Parini, R; Sirchia, F; Sortino, G; Sturiale, L; Matthijs, G; Morrone, A; Di Rocco, M; Rizzo, R; Jaeken, J; Fiumara, A; Barone, R
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
2021 Bonaventura, E; Barone, R; Sturiale, L; Pasquariello, R; Alessandri, M G; Pinto, A M; Renieri, A; Panteghini, C; Garavaglia, B; Cioni, G; Battini, R.
Lipopolysaccharide from Gut‐Associated Lymphoid‐Tissue‐Resident Alcaligenes faecalis: Complete Structure Determination and Chemical Synthesis of Its Lipid A
2021 Shimoyama, A; Di Lorenzo, F; Yamaura, H; Mizote, K; Palmigiano, A; Pither, M D.; Speciale, I; Uto, T; Masui, S; Sturiale, L; Garozzo, D; Hosomi, K; Shibata, N; Kabayama, K; Fujimoto, Y; Silipo, A; Kunisawa, J; Kiyono, H; Molinaro, A; Fukase, K
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
2021 Papazoglu, G M; Cubilla, M; Pereyra, M; Dodelson de Kremer, R; Perez, B; Sturiale, L; Asteggiano, Cg
SLC35A2-CDG: Novel variant and review
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
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
2021 Messina, A; Palmigiano, A; Tosto, C; Romeo, Da; Sturiale, L; Garozzo, D; Leonardi, A
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases
2020 Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Fiumara, Agata; Bordugo, Andrea; Barone, Rita; Sturiale, L.; Jaeken, Jaak; Garozzo, Domenico
MALDI-MS CEREBROSPINAL FLUID (CSF) N-GLYCAN PROFILES IN NEURODEGENERATIVE DISEASES
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
2020 Palmigiano, Angelo; Messina, Angela; Sturiale, Luisella; Garozzo, Domenico
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer’s Disease | 1-gen-2024 | Messina, Angela; Barone, Rita; Sturiale, L.; Zappia, Mario; Palmigiano, Angelo; Garozzo, Domenico | |
| CSF N-Glycomics Using MALDI MS Techniques | 1-gen-2024 | Messina, A.; Romeo, D. A.; Barone, R.; Sturiale, L.; Palmigiano, A.; Zappia, M.; Garozzo, D. | |
| Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA | 1-gen-2024 | Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia | |
| Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation | 1-gen-2023 | Fiumara, A; Sapuppo, A; Ferri, L; Arena, A; Prato, A; Garozzo, D; Sturiale, L; Morrone, A; Barone, R | |
| N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function | 1-gen-2023 | Da Silva, A; Dort, J; Orfi, Z; Pan, X; Huang, S; Kho, I; Heckel, E; Muscarnera, G; van Vliet, P. P.; Sturiale, L; Messina, A; Romeo, D. A; van Karnebeek, C. D. M.; Wen, X-Y; Hinek, A; Molina, T; Andelfinger, G; Ellezam, B; Yamanaka, Y; Olivos, H J.; Morales, C. R.; Joyal, J-S; Lefeber, D. J.; Garozzo, D; Dumont, N. A.; Pshezhetsky, A | |
| Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption | 1-gen-2023 | Kho, I; Demina, E. P; Pan, X; Londono, I; Cairo, C W; Sturiale, L; Palmigiano, A; Messina, A; Garozzo, D; Ung, R-V; Mac-Way, F; Bonneil, É; Thibault, P; Lemaire, M; Morales, C R; Pshezhetsky, A. V | |
| CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking | 1-gen-2022 | Wilson, M P; Durin, Z; Unal, O; Ng, B G; Marrecau, T; Keldermans, L; Souche, E; Rymen, D; Gunduz, M; Kose, G; Sturiale, L; Garozzo, D; Freeze, H H; Jaeken, J; Foulquier, F; Matthijs, G. | |
| 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 | |
| Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis | 1-gen-2022 | Guerrini, R; Mei, D; Kerti-Szigeti, K; Pepe, S; Koenig, M K; Von Allmen, G; Cho, M T.; Mcdonald, K; Baker, J; Bhambhani, V; Powis, Z; Rodan, L; Nabbout, R; Barcia, G; Rosenfeld, J A.; Bacino, C A.; Mignot, C; Power, L H.; Harris, C J.; Marjanovic, D; Moller, R S.; Hammer, T B.; Keski Filppula, R; Vieira, P; Hildebrandt, C; Sacharow, S; Maragliano, L; Benfenati, F; Lachlan, K; Benneche, A; Petit, F; de Sainte A, Jean-Madeleine; H, Barbara; Si, Y; Wentzensen, I M.; Zou, F; Narayanan, V; Matsumoto, N; Boncristiano, A; la Marca, G; Kato, M; Anderson, K; Barba, C; Sturiale, L; Garozzo, D; Bei, R; Masuelli, L; Conti, V; Novarino, G; Fassio, A | |
| Aberrant sialylation in a patient with a HNF1 alpha variant and liver adenomatosis | 1-gen-2021 | Sturiale, L; Nassogne, Mc; 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 | |
| Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) | 1-gen-2021 | Pettinato, F; Mostile, G; Battini, R; Martinelli, D; Madeo, A; Biamino, E; Frattini, D; Garozzo, D; Gasperini, S; Parini, R; Sirchia, F; Sortino, G; Sturiale, L; Matthijs, G; Morrone, A; Di Rocco, M; Rizzo, R; Jaeken, J; Fiumara, A; Barone, R | |
| Clinical, molecular and glycophenotype insights in SLC39A8-CDG | 1-gen-2021 | Bonaventura, E; Barone, R; Sturiale, L; Pasquariello, R; Alessandri, M G; Pinto, A M; Renieri, A; Panteghini, C; Garavaglia, B; Cioni, G; Battini, R. | |
| Lipopolysaccharide from Gut‐Associated Lymphoid‐Tissue‐Resident Alcaligenes faecalis: Complete Structure Determination and Chemical Synthesis of Its Lipid A | 1-gen-2021 | Shimoyama, A; Di Lorenzo, F; Yamaura, H; Mizote, K; Palmigiano, A; Pither, M D.; Speciale, I; Uto, T; Masui, S; Sturiale, L; Garozzo, D; Hosomi, K; Shibata, N; Kabayama, K; Fujimoto, Y; Silipo, A; Kunisawa, J; Kiyono, H; Molinaro, A; Fukase, K | |
| Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis | 1-gen-2021 | Papazoglu, G M; Cubilla, M; Pereyra, M; Dodelson de Kremer, R; Perez, B; Sturiale, L; Asteggiano, Cg | |
| 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 | |
| HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases | 1-gen-2020 | Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Fiumara, Agata; Bordugo, Andrea; Barone, Rita; Sturiale, L.; Jaeken, Jaak; Garozzo, Domenico | |
| 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 |