Meschini, Maria Chiara
Meschini, Maria Chiara
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
2011-01-01 El Hafidi, M.; Meschini, Maria Chiara; Rizza, T.; Santorelli, F. M.; Bertini, E.; Carrozzo, R.; Vázquez Memije, M. E.
CHARACTERIZATION OF CELLULAR AND MOLECULAR MECHANISMS IN CELLULAR MODELS OF NEURONAL CEROID LIPOFUSCINOSES DISEASES
2015-01-01 Meschini, Maria Chiara
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis
2018-01-01 di Ronza, Alberto; Bajaj, Lakshya; Sharma, Jaiprakash; Sanagasetti, Deepthi; Lotfi, Parisa; Adamski, Carolyn Joy; Collette, John; Palmieri, Michela; Amawi, Abdallah; Popp, Lauren; Chang, Kevin Tommy; Meschini, Maria Chiara; Leung, Hon-Chiu Eastwood; Segatori, Laura; Simonati, Alessandro; Sifers, Richard Norman; Santorelli, Filippo Maria; Sardiello, Marco
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
2013-01-01 Bandettini di Poggio, M.; Nesti, C.; Bruno, C.; Meschini, Maria Chiara; Schenone, A.; Santorelli, F. M.
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
2013-01-01 Nogueira, C.; Marques, J. S.; Nesti, C.; Azevedo, L.; Di Lullo, M.; Meschini, Maria Chiara; Orlacchio, A.; Santorelli, F. M.; Vilarinho, L.
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
2013-01-01 Nogueira, C.; Barros, J.; Sá, M. J.; Azevedo, L.; Taipa, R.; Torraco, A.; Meschini, Maria Chiara; Verrigni, D.; Nesti, C.; Rizza, T.; Teixeira, J.; Carrozzo, R.; Pires, M. M.; Vilarinho, L.; Santorelli, F. M.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
2013-01-01 Cassandrini, D.; Cilio, M. R.; Bianchi, M.; Doimo, M.; Balestri, M.; Tessa, A.; Rizza, T.; Sartori, G.; Meschini, Maria Chiara; Nesti, C.; Tozzi, G.; Petruzzella, V.; Piemonte, F.; Bisceglia, L.; Bruno, C.; Dionisi Vici, C.; D'Amico, A.; Fattori, F.; Carrozzo, R.; Salviati, L.; Santorelli, F. M.; Bertini, E.
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
2011-01-01 Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, Maria Chiara; Castana, C.; Go, N. E.; Nargang, F. E.; Duarte, M.; Piemonte, F.; Dionisi Vici, C.; Videira, A.; Vilarinho, L.; Santorelli, F. M.; Carrozzo, R.; Bertini, E.
Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.
2014-01-01 Di Fabio, R.; Moro, F.; Pestillo, L.; Meschini, Maria Chiara; Pezzini, Francesco; Doccini, S.; Casali, C.; Pierelli, F.; Simonati, Alessandro; Santorelli, F. M.
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
2012-01-01 Torraco, A.; Verrigni, D.; Rizza, T.; Meschini, Maria Chiara; Vazquez Memije, M. E.; Martinelli, D.; Bianchi, Marzia; Piemonte, F.; Dionisi Vici, C.; Santorelli, F. M.; Bertini, E.; Carrozzo, R.
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
2012-01-01 Fiorillo, C.; Moro, F.; Brisca, G.; Astrea, G.; Nesti, C.; Bálint, Z.; Olschewski, A.; Meschini, Maria Chiara; Guelly, C.; Auer Grumbach, M.; Battini, R.; Pedemonte, M.; Romano, A.; Menchise, V.; Biancheri, R.; Santorelli, F. M.; Bruno, C.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
2012-01-01 Martinelli, D.; Häberle, J.; Rubio, V.; Giunta, C.; Hausser, I.; Carrozzo, R.; Gougeard, N.; Marco Marín, C.; Goffredo, B. M.; Meschini, Maria Chiara; Bevivino, E.; Boenzi, S.; Colafati, G. S.; Brancati, F.; Baumgartner, M. R.; Dionisi Vici, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene. | 1-gen-2011 | El Hafidi, M.; Meschini, Maria Chiara; Rizza, T.; Santorelli, F. M.; Bertini, E.; Carrozzo, R.; Vázquez Memije, M. E. | |
| CHARACTERIZATION OF CELLULAR AND MOLECULAR MECHANISMS IN CELLULAR MODELS OF NEURONAL CEROID LIPOFUSCINOSES DISEASES | 1-gen-2015 | Meschini, Maria Chiara | |
| CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | 1-gen-2018 | di Ronza, Alberto; Bajaj, Lakshya; Sharma, Jaiprakash; Sanagasetti, Deepthi; Lotfi, Parisa; Adamski, Carolyn Joy; Collette, John; Palmieri, Michela; Amawi, Abdallah; Popp, Lauren; Chang, Kevin Tommy; Meschini, Maria Chiara; Leung, Hon-Chiu Eastwood; Segatori, Laura; Simonati, Alessandro; Sifers, Richard Norman; Santorelli, Filippo Maria; Sardiello, Marco | |
| Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. | 1-gen-2013 | Bandettini di Poggio, M.; Nesti, C.; Bruno, C.; Meschini, Maria Chiara; Schenone, A.; Santorelli, F. M. | |
| Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome | 1-gen-2013 | Nogueira, C.; Marques, J. S.; Nesti, C.; Azevedo, L.; Di Lullo, M.; Meschini, Maria Chiara; Orlacchio, A.; Santorelli, F. M.; Vilarinho, L. | |
| Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. | 1-gen-2013 | Nogueira, C.; Barros, J.; Sá, M. J.; Azevedo, L.; Taipa, R.; Torraco, A.; Meschini, Maria Chiara; Verrigni, D.; Nesti, C.; Rizza, T.; Teixeira, J.; Carrozzo, R.; Pires, M. M.; Vilarinho, L.; Santorelli, F. M. | |
| Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. | 1-gen-2013 | Cassandrini, D.; Cilio, M. R.; Bianchi, M.; Doimo, M.; Balestri, M.; Tessa, A.; Rizza, T.; Sartori, G.; Meschini, Maria Chiara; Nesti, C.; Tozzi, G.; Petruzzella, V.; Piemonte, F.; Bisceglia, L.; Bruno, C.; Dionisi Vici, C.; D'Amico, A.; Fattori, F.; Carrozzo, R.; Salviati, L.; Santorelli, F. M.; Bertini, E. | |
| Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. | 1-gen-2011 | Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, Maria Chiara; Castana, C.; Go, N. E.; Nargang, F. E.; Duarte, M.; Piemonte, F.; Dionisi Vici, C.; Videira, A.; Vilarinho, L.; Santorelli, F. M.; Carrozzo, R.; Bertini, E. | |
| Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease. | 1-gen-2014 | Di Fabio, R.; Moro, F.; Pestillo, L.; Meschini, Maria Chiara; Pezzini, Francesco; Doccini, S.; Casali, C.; Pierelli, F.; Simonati, Alessandro; Santorelli, F. M. | |
| TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. | 1-gen-2012 | Torraco, A.; Verrigni, D.; Rizza, T.; Meschini, Maria Chiara; Vazquez Memije, M. E.; Martinelli, D.; Bianchi, Marzia; Piemonte, F.; Dionisi Vici, C.; Santorelli, F. M.; Bertini, E.; Carrozzo, R. | |
| TRPV4 mutations in children with congenital distal spinal muscular atrophy. | 1-gen-2012 | Fiorillo, C.; Moro, F.; Brisca, G.; Astrea, G.; Nesti, C.; Bálint, Z.; Olschewski, A.; Meschini, Maria Chiara; Guelly, C.; Auer Grumbach, M.; Battini, R.; Pedemonte, M.; Romano, A.; Menchise, V.; Biancheri, R.; Santorelli, F. M.; Bruno, C. | |
| Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. | 1-gen-2012 | Martinelli, D.; Häberle, J.; Rubio, V.; Giunta, C.; Hausser, I.; Carrozzo, R.; Gougeard, N.; Marco Marín, C.; Goffredo, B. M.; Meschini, Maria Chiara; Bevivino, E.; Boenzi, S.; Colafati, G. S.; Brancati, F.; Baumgartner, M. R.; Dionisi Vici, C. |