DONATI, MARIA ALICE
DONATI, MARIA ALICE
Medicina Sperimentale e Clinica
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
2023 Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy
2020 Pioner JM, Fornaro A, Coppini R, Ceschia N, Sacconi L, Donati MA, Favilli S, Poggesi C, Olivotto I, Ferrantini C
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
2021 Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M.; Petruzzella, Vittoria
Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
2022 Fazi, C; Lodi, L; Magi, L; Canessa, C; Giovannini, M; Pelosi, C; Pochiero, F; Procopio, E; Donati, M A; Azzari, C; Ricci, S
Clinical profile and outcome of cardiac involvement in MELAS syndrome
2019 Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A.
Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre
2022 Pagano, M; Fumagalli, C; Girolami, F; Passantino, S; Gozzini, A; Brambilla, A; Spinelli, V; Morrone, A; Procopio, E; Pochiero, F; Donati, M A; Olivotto, I; Favilli, S
Comment on: Assessment of cardiac disease in MELAS requires comprehensive, prospective work-up
2019 Brambilla, Alice; Olivotto, Iacopo; Favilli, Silvia; Donati, Maria Alice
Malattia di Anderson-Fabry
2019 Ilaria Tanini; Iacopo Olivotto; Andrea Matucci; Lino Cirami; Walter Borsini; Patrizia Nencini; Rudi Pecci; Andrea Sodi; Maria Alice Donati; Amelia Morrone; Marzia Caproni; Franco Cecchi
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
2021 Malvagia S.; Ferri L.; Della Bona M.; Borsini W.; Cirami C.L.; Derwishi E.; Feriozzi S.; Gasperini S.; Motta S.; Mignani R.; Trezzi B.; Pieruzzi F.; Morrone A.; Daniotti M.; Donati M.A.; La Marca G.
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
2026 Malvagia, Sabrina; Daniotti, Marta; Tonin, Rodolfo; Ferri, Lorenzo; Ombrone, Daniela; Forni, Giulia; Scolamiero, Emanuela; Funghini, Silvia; Rinaldi, Marina; Falliano, Silvia; Paoli, Antonella; Mura, Massimo; Raspini, Francesca; Poggiali, Sara; Scaturro, Giusi; Sacchini, Michele; Donati, Maria Alice; Procopio, Elena; Guerrini, Renzo; Morrone, Amelia; la Marca, Giancarlo
Recurrent Burning Limb Pain Diagnosed as Psychiatric Disorder in Adolescence: A Case of True Neuro-Metabolic Disease
2017 Trapani S, Montmaggi A, Dini E, PozzessereA, Donati MA, Resti M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up | 2023 | Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini | |
| Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy | 2020 | Pioner JM, Fornaro A, Coppini R, Ceschia N, Sacconi L, Donati MA, Favilli S, Poggesi C, Olivotto I, Ferrantini C | |
| Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction | 2021 | Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M.; Petruzzella, Vittoria | |
| Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency | 2022 | Fazi, C; Lodi, L; Magi, L; Canessa, C; Giovannini, M; Pelosi, C; Pochiero, F; Procopio, E; Donati, M A; Azzari, C; Ricci, S | |
| Clinical profile and outcome of cardiac involvement in MELAS syndrome | 2019 | Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A. | |
| Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre | 2022 | Pagano, M; Fumagalli, C; Girolami, F; Passantino, S; Gozzini, A; Brambilla, A; Spinelli, V; Morrone, A; Procopio, E; Pochiero, F; Donati, M A; Olivotto, I; Favilli, S | |
| Comment on: Assessment of cardiac disease in MELAS requires comprehensive, prospective work-up | 2019 | Brambilla, Alice; Olivotto, Iacopo; Favilli, Silvia; Donati, Maria Alice | |
| Malattia di Anderson-Fabry | 2019 | Ilaria Tanini; Iacopo Olivotto; Andrea Matucci; Lino Cirami; Walter Borsini; Patrizia Nencini; Rudi Pecci; Andrea Sodi; Maria Alice Donati; Amelia Morrone; Marzia Caproni; Franco Cecchi | |
| Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients | 2021 | Malvagia S.; Ferri L.; Della Bona M.; Borsini W.; Cirami C.L.; Derwishi E.; Feriozzi S.; Gasperini S.; Motta S.; Mignani R.; Trezzi B.; Pieruzzi F.; Morrone A.; Daniotti M.; Donati M.A.; La Marca G. | |
| Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden | 2026 | Malvagia, Sabrina; Daniotti, Marta; Tonin, Rodolfo; Ferri, Lorenzo; Ombrone, Daniela; Forni, Giulia; Scolamiero, Emanuela; Funghini, Silvia; Rinaldi, Marina; Falliano, Silvia; Paoli, Antonella; Mura, Massimo; Raspini, Francesca; Poggiali, Sara; Scaturro, Giusi; Sacchini, Michele; Donati, Maria Alice; Procopio, Elena; Guerrini, Renzo; Morrone, Amelia; la Marca, Giancarlo | |
| Recurrent Burning Limb Pain Diagnosed as Psychiatric Disorder in Adolescence: A Case of True Neuro-Metabolic Disease | 2017 | Trapani S, Montmaggi A, Dini E, PozzessereA, Donati MA, Resti M |