BATTINI, ROBERTA Statistiche

BATTINI, ROBERTA  

DIPARTIMENTO DI MEDICINA CLINICA E SPERIMENTALE  

Mostra records
Risultati 1 - 20 di 320 (tempo di esecuzione: 0.024 secondi).
Titolo Data di pubblicazione Autore(i) File
"I have got something positive out of this situation": Psychological benefits of caregiving in relatives of young people with muscular dystrophy 1-gen-2014 Magliano, Lorenza; Patalano, Melania; Sagliocchi, Alessandra; Scutifero, Marianna; Zaccaro, Antonella; D'Angelo, Maria Grazia; Civati, Federica; Brighina, Erika; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Sframeli, Maria; Pane, Marika; Lombardo, Maria Elena; Scalise, Roberta; D'Amico, Adele; Colia, Giulia; Catteruccia, Michela; Balottin, Umberto; Berardinelli, Angela; Motta, Maria Chiara; Angelini, Corrado; Gaiani, Alessandra; Semplicini, Claudio; Bello, Luca; Battini, Roberta; Astrea, Guja; Ricci, Giulia; Politano, Luisa
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands 1-gen-2014 Bertrand, At; Bonnemann, Cg; Bonne, G; FHL1 myopathy, Concortium; Battini, R
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma 1-gen-2022 Gautam, Mukesh; Carratore, Renata Del; Helmold, Benjamin; Tessa, Alessandra; Gozutok, Oge; Chandel, Navdeep; Idrisoglu, Halil; Bongioanni, Paolo; Battini, Roberta; Ozdinler, P Hande
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 1-gen-2013 Mazzone, Es; Pane, M; Sormani, Mp; Scalise, R; Berardinelli, A; Messina, S; Torrente, Y; D'Amico, A; Doglio, L; Viggiano, E; D'Ambrosio, P; Cavallaro, F; Frosini, S; Bello, L; Bonfiglio, S; De Sanctis, R; Rolle, E; Bianco, F; Magri, F; Rossi, F; Vasco, G; Vita, G; Motta, Mc; Donati, Ma; Sacchini, M; Mongini, T; Pini, A; Battini, R; Pegoraro, E; Previtali, S; Napolitano, S; Bruno, C; Politano, L; Comi, Gp; Bertini, E; Mercuri, E.
45,X Maleness: Clinical and Cytogenetic Features in Two Patients 1-gen-2011 Dati, E; Valetto, A; Bertini, V; Chiocca, E; Baroncelli, G I; Battini, R; Bertelloni, S.
6 minutes walk test in duchenne MD patients with different mutation: 12 month changes 1-gen-2014 Pane, M; Mazzone, Es; Sormani, Mp; Messina, S; Vita, Gl; Fanelli, L; Berardinelli, A; Torrente, Y; D'Amico, A; Lanzilotta, V; Viggiano, E; D'Ambroio, P; Cavallaro, F; Frosini, S; Bello, L; Bonfiglio, S; Scalise, R; De Sanctis, R; Rolle, E; Bianco, F; Van Der Haawue, M; Magri, F; Palermo, C; Rossi, F; Donati, Ma; Alfonsi, C; Sacchini, M; Arnoldi, Mt; Baranello, G; Mongini, T; Pini, A; Battini, R; Pegoraro, E; Previtali, Sc; Napolitano, S; Bruno, C; Politano, L; Comi, Gp; Bertini, E; Morandi, L; Gualandi, F; Ferlini, A; Goemans, N; Mercuri, E
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance 1-gen-2015 Astrea, Guja; Munteanu, Iulia; Cassandrini, Denise; Lillis, Suzanne; Trovato, Rosanna; Pegoraro, Elena; Cioni, Giovanni; Mercuri, Eugenio; Muntoni, Francesco; Battini, Roberta
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 1-gen-2015 Barone, R; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlin, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, G; Jaeken, J; Di Rocco, M; Garozo D: Fiumara, A
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 1-gen-2019 Milone, Roberta; Masson, Riccardo; Di Cosmo, Caterina; Tonacchera, Massimo; Bertini, Veronica; Guzzetta, Andrea; Battini, Roberta
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies 1-gen-2019 Montioli, R.; Battini, R.; Paiardini, A.; Tolve, M.; Bertoldi, M.; Carducci, C.; Leuzzi, V.; Borri Voltattorni, C.
A novel IRF2BPL truncating variant is associated with endolysosomal storage 1-gen-2019 Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E. M.
A Proposed Multidisciplinary Approach for Identifying Feeding Abnormalities in Children With Cerebral Palsy 1-gen-2012 Santoro, A; Lang, M D; Moretti, E; Sellari-Franceschini, S; Orazini, L; Cipriani, P; Cioni, G; Battini, R
A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency 1-gen-2008 Carducci, C; Santagata, S; Carducci, C A; Battini, R; Leuzzi, V; Antonozzi, I
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review 1-gen-2021 Forli, Francesca; Bruschini, Luca; Franciosi, Beatrice; Battini, Roberta; Marinella, Gemma; Berrettini, Stefano; Lazzerini, Francesco
A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With Tetrabenazine 1-gen-2021 Scalise, R.; Sgandurra, G.; Menici, V.; Capodagli, N.; Di Pietro, R.; Romeo, D. M.; Sini, F.; Pagliano, E.; Foscan, M.; Cioni, G.; Battini, R.
A strategy in the treatment of creatine transporter defect: L-arginine supplementation in three italian CT1 patients 1-gen-2008 Battini, R; Chilosi, A M; Caruso, U; Mancardi, M M; Leuzzi, V
Accrescimento in pazienti con sindrome da insensibilità agli androgeni 1-gen-1992 Saggese, G; Ghirri, P; Battini, R
Add-on Lamotrigine treatment in children and young adults with severe partial epilepsy: an Open, Prospective study 1-gen-1999 Belmonte, A; Ferrari, Ar; Battini, R; Guerrini, R
AGAT activity assay in human cells by GC/MS: a new method with unlabeled substrates 1-gen-2004 Alessandrì, Mg; Celati, L; Battini, R; Cioni, G
AGAT deficiency: is there a specific biochemical pattern of this disorder? 1-gen-2004 Alessandrì, Mg; Celati, L; Battini, R; Cioni, G