Sfoglia per Autore
Biochemical analysis of missense mutations in beta-mannosidosis
2007 Persichetti, Emanuele; H. M. F., Riise Stenslad; G. M., Hansen; Paciotti, Silvia; Balducci, Chiara; Beccari, Tommaso
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta mannosidase (MANBA) missense mutations.
2008 Riise Stensland, H. M.; Persichetti, Emanuele; Sorriso, C.; Hansen, G.; Bibi, L.; Paciotti, Silvia; Balducci, Chiara; Beccari, Tommaso
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs)
2008 Balducci, Chiara; Bibi, L.; Berg, T.; Persichetti, Emanuele; Tiribuzi, Roberto; Martino, Sabata; Paciotti, Silvia; Roberti, Rita; Orlacchio, Aldo; Beccari, Tommaso
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
2009 Persichetti, Emanuele; Chuzhanova, N.; Dardis, A.; Tappino, B.; Pohl, S.; Thomas, N.; Rosano, C.; Balducci, Chiara; Paciotti, Silvia; Dominissini, S.; Montalvo, A.; Sibilio, M.; Parini, R.; Rigoldi, M.; Di Rocco, M.; Parenti, G.; Orlacchio, Aldo; Bembi, B.; Cooper, D.; Filocamo, M.; Beccari, Tommaso
Generation of a chitobiase knock out mouse model
2009 Persichetti, Emanuele; S., Franken; Balducci, Chiara; Paciotti, Silvia; Codini, Michela; Giua, Laura; Orlacchio, Aldo; V., Gieselmann; Beccari, Tommaso
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
2009 Parnetti, Lucilla; Balducci, C.; Pierguidi, L.; De Carlo, C.; Peducci, M.; D'Amore, C.; Padiglioni, C.; Mastrocola, S.; Persichetti, E.; Paciotti, S.; Bellomo, G.; Tambasco, N.; Rossi, A.; Beccari, Tommaso; Calabresi, Paolo
Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease
2011 Beccari, Tommaso; C., Balducci; Paciotti, Silvia; Persichetti, Emanuele; Chiasserini, Davide; Castrioto, Anna; Tambasco, Nicola; Rossi, Aroldo; Calabresi, Paolo; V., Pagliardini; B., Bembi; Parnetti, Lucilla
di-N-acetylchitobiase-deficient mice accumulate Man2GlcNAc2 and Man3GlcNAc2
2011 Persichetti, Emanuele; K., Klein; Paciotti, Silvia; K., Lecointe; Balducci, Chiara; S., Franken; S., Duvet; U., Matzner; Codini, Michela; D., Hartmann; V., Gieselmann; Beccari, Tommaso
Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2
2012 Persichetti, Emanuele; Klein, K.; Paciotti, Silvia; Lecointe, K.; Balducci, Chiara; Franken, S.; Duvet, S.; Matzner, U.; Roberti, Rita; Hartmann, D.; Gieselmann, V.; Beccari, Tommaso
Next generation sequencing applications in agro biotechnology
2012 Paciotti, Silvia; Persichetti, Emanuele; Codini, Michela; Beccari, Tommaso
First pilot newborn screening for our lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene
2012 Paciotti, Silvia; Persichetti, Emanuele; Pagliardini, S.; Deganuto, M.; Rosano, C.; Balducci, Chiara; Codini, Michela; Filocamo, M.; Menghini, Anna Rita; Pagliardini, V.; Pasqui, S.; Bembi, B.; Dardis, A.; Beccari, Tommaso
Free oligosaccharides accumulation and tissue damages in Ma2c1 deficient mice
2013 Beccari, Tommaso; Paciotti, Silvia; Persichetti, Emanuele; Codini, Michela; Tasegian, Anna; Volkmar, Gieselmann; Hartmann, Dieter; Sandrine, Duvet
Lysosomal enzymes in PD: further evidence is needed.
2014 Chiasserini, Davide; Persichetti, Emanuele; Paciotti, Silvia; Beccari, Tommaso; Parnetti, Lucilla
Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice.
2014 Paciotti, Silvia; Persichetti, Emanuele; Klein, K; Tasegian, Anna; Duvet, S; Hartmann, D; Gieselmann, V; Beccari, Tommaso
Cerebrospinal fluid lysosomal enzymes and α-synuclein in Parkinson's disease.
2014 Parnetti, Lucilla; Chiasserini, Davide; Persichetti, E; Eusebi, Paolo; Varghese, S; Qureshi, Mm; Dardis, A; Deganuto, M; DE CARLO, Claudia; Castrioto, Anna; Balducci, C; Paciotti, S; Tambasco, Nicola; Bembi, B; Bonanni, L; Onofrj, M; Rossi, Aroldo; Beccari, Tommaso; El Agnaf, O; Calabresi, Paolo
Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid.
2014 Persichetti, Emanuele; Chiasserini, Davide; Parnetti, Lucilla; Eusebi, Paolo; Paciotti, Silvia; DE CARLO, Claudia; Codini, Michela; Tambasco, Nicola; Rossi, A; El Agnaf, Om; Calabresi, Paolo; Beccari, Tommaso
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies
2015 Chiasserini, Davide; Paciotti, Silvia; Eusebi, Paolo; Persichetti, Emanuele; Tasegian, Anna; Kurzawa Akanbi, Marzena; Chinnery, Patrick F; Morris, Christopher M; Calabresi, Paolo; Parnetti, Lucilla; Beccari, Tommaso
Emerging therapies and therapeutic concepts for lysosomal storage diseases
2016 Beccari, Tommaso; Codini, Michela; Albi, Elisabetta; Paciotti, Silvia; Tasegian, A.; Cataldi, Samuela; Ceccarini, MARIA RACHELE; Fioretti, Bernard
Lysosomal Dysfunction and α-Synuclein Aggregation in Parkinson's Disease: Diagnostic Links
2016 Moors, Tim; Paciotti, Silvia; Chiasserini, Davide; Calabresi, Paolo; Parnetti, Lucilla; Beccari, Tommaso; van de Berg, Wilma D. J.
Lysosomal enzymes in Parkinson's disease
2017 Beccari, Tommaso; Paciotti, Silvia; Tasegian, Anna; Codini, Michela; Ceccarini, Maria Rachele; Albi, Elisabetta; Cataldi, Samuela; Traina, Giovanna; Conte, Carmela; Parnetti, Lucilla; Bertelli, Matteo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Biochemical analysis of missense mutations in beta-mannosidosis | 2007 | Persichetti, Emanuele; H. M. F., Riise Stenslad; G. M., Hansen; Paciotti, Silvia; Balducci, Chiara; Beccari, Tommaso | |
| Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta mannosidase (MANBA) missense mutations. | 2008 | Riise Stensland, H. M.; Persichetti, Emanuele; Sorriso, C.; Hansen, G.; Bibi, L.; Paciotti, Silvia; Balducci, Chiara; Beccari, Tommaso | |
| Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs) | 2008 | Balducci, Chiara; Bibi, L.; Berg, T.; Persichetti, Emanuele; Tiribuzi, Roberto; Martino, Sabata; Paciotti, Silvia; Roberti, Rita; Orlacchio, Aldo; Beccari, Tommaso | |
| Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma | 2009 | Persichetti, Emanuele; Chuzhanova, N.; Dardis, A.; Tappino, B.; Pohl, S.; Thomas, N.; Rosano, C.; Balducci, Chiara; Paciotti, Silvia; Dominissini, S.; Montalvo, A.; Sibilio, M.; Parini, R.; Rigoldi, M.; Di Rocco, M.; Parenti, G.; Orlacchio, Aldo; Bembi, B.; Cooper, D.; Filocamo, M.; Beccari, Tommaso | |
| Generation of a chitobiase knock out mouse model | 2009 | Persichetti, Emanuele; S., Franken; Balducci, Chiara; Paciotti, Silvia; Codini, Michela; Giua, Laura; Orlacchio, Aldo; V., Gieselmann; Beccari, Tommaso | |
| Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies. | 2009 | Parnetti, Lucilla; Balducci, C.; Pierguidi, L.; De Carlo, C.; Peducci, M.; D'Amore, C.; Padiglioni, C.; Mastrocola, S.; Persichetti, E.; Paciotti, S.; Bellomo, G.; Tambasco, N.; Rossi, A.; Beccari, Tommaso; Calabresi, Paolo | |
| Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease | 2011 | Beccari, Tommaso; C., Balducci; Paciotti, Silvia; Persichetti, Emanuele; Chiasserini, Davide; Castrioto, Anna; Tambasco, Nicola; Rossi, Aroldo; Calabresi, Paolo; V., Pagliardini; B., Bembi; Parnetti, Lucilla | |
| di-N-acetylchitobiase-deficient mice accumulate Man2GlcNAc2 and Man3GlcNAc2 | 2011 | Persichetti, Emanuele; K., Klein; Paciotti, Silvia; K., Lecointe; Balducci, Chiara; S., Franken; S., Duvet; U., Matzner; Codini, Michela; D., Hartmann; V., Gieselmann; Beccari, Tommaso | |
| Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2 | 2012 | Persichetti, Emanuele; Klein, K.; Paciotti, Silvia; Lecointe, K.; Balducci, Chiara; Franken, S.; Duvet, S.; Matzner, U.; Roberti, Rita; Hartmann, D.; Gieselmann, V.; Beccari, Tommaso | |
| Next generation sequencing applications in agro biotechnology | 2012 | Paciotti, Silvia; Persichetti, Emanuele; Codini, Michela; Beccari, Tommaso | |
| First pilot newborn screening for our lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene | 2012 | Paciotti, Silvia; Persichetti, Emanuele; Pagliardini, S.; Deganuto, M.; Rosano, C.; Balducci, Chiara; Codini, Michela; Filocamo, M.; Menghini, Anna Rita; Pagliardini, V.; Pasqui, S.; Bembi, B.; Dardis, A.; Beccari, Tommaso | |
| Free oligosaccharides accumulation and tissue damages in Ma2c1 deficient mice | 2013 | Beccari, Tommaso; Paciotti, Silvia; Persichetti, Emanuele; Codini, Michela; Tasegian, Anna; Volkmar, Gieselmann; Hartmann, Dieter; Sandrine, Duvet | |
| Lysosomal enzymes in PD: further evidence is needed. | 2014 | Chiasserini, Davide; Persichetti, Emanuele; Paciotti, Silvia; Beccari, Tommaso; Parnetti, Lucilla | |
| Accumulation of free oligosaccharides and tissue damage in cytosolic alpha-mannosidase (Man2c1)-deficient mice. | 2014 | Paciotti, Silvia; Persichetti, Emanuele; Klein, K; Tasegian, Anna; Duvet, S; Hartmann, D; Gieselmann, V; Beccari, Tommaso | |
| Cerebrospinal fluid lysosomal enzymes and α-synuclein in Parkinson's disease. | 2014 | Parnetti, Lucilla; Chiasserini, Davide; Persichetti, E; Eusebi, Paolo; Varghese, S; Qureshi, Mm; Dardis, A; Deganuto, M; DE CARLO, Claudia; Castrioto, Anna; Balducci, C; Paciotti, S; Tambasco, Nicola; Bembi, B; Bonanni, L; Onofrj, M; Rossi, Aroldo; Beccari, Tommaso; El Agnaf, O; Calabresi, Paolo | |
| Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid. | 2014 | Persichetti, Emanuele; Chiasserini, Davide; Parnetti, Lucilla; Eusebi, Paolo; Paciotti, Silvia; DE CARLO, Claudia; Codini, Michela; Tambasco, Nicola; Rossi, A; El Agnaf, Om; Calabresi, Paolo; Beccari, Tommaso | |
| Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies | 2015 | Chiasserini, Davide; Paciotti, Silvia; Eusebi, Paolo; Persichetti, Emanuele; Tasegian, Anna; Kurzawa Akanbi, Marzena; Chinnery, Patrick F; Morris, Christopher M; Calabresi, Paolo; Parnetti, Lucilla; Beccari, Tommaso | |
| Emerging therapies and therapeutic concepts for lysosomal storage diseases | 2016 | Beccari, Tommaso; Codini, Michela; Albi, Elisabetta; Paciotti, Silvia; Tasegian, A.; Cataldi, Samuela; Ceccarini, MARIA RACHELE; Fioretti, Bernard | |
| Lysosomal Dysfunction and α-Synuclein Aggregation in Parkinson's Disease: Diagnostic Links | 2016 | Moors, Tim; Paciotti, Silvia; Chiasserini, Davide; Calabresi, Paolo; Parnetti, Lucilla; Beccari, Tommaso; van de Berg, Wilma D. J. | |
| Lysosomal enzymes in Parkinson's disease | 2017 | Beccari, Tommaso; Paciotti, Silvia; Tasegian, Anna; Codini, Michela; Ceccarini, Maria Rachele; Albi, Elisabetta; Cataldi, Samuela; Traina, Giovanna; Conte, Carmela; Parnetti, Lucilla; Bertelli, Matteo |
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