FIORILLO, CHIARA
FIORILLO, CHIARA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors
2022-01-01 Stella, M; Biassoni, E; Fiorillo, C; Grandis, M; Mattioli, F; Del Sette, M
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY
2023-01-01 Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
2023-01-01 Geroldi, A.; Tozza, S.; Fiorillo, C.; Nolano, M.; Fossa, P.; Vitale, F.; Domi, R.; Gaudio, A.; Mammi, A.; Patrone, S.; Barbera, A. L.; Origone, P.; Ponti, C.; Sanguineri, F.; Zara, F.; Cataldi, M.; Salpietro, V.; Venturi, C. B.; Massucco, S.; Schenone, A.; Manganelli, F.; Mandich, P.; Bellone, E.; Gotta, F.
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
2019-01-01 Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina.
A rare mutation in MYH7 gene occurs with overlapping phenotype
2015-01-01 Ruggiero, L.; Fiorillo, C.; Gibertini, S.; De Stefano, F.; Manganelli, F.; Iodice, R.; Vitale, F.; Zanotti, S.; Galderisi, M.; Mora, M.; Santoro, L.
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
2011-01-01 Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C.
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
2019-01-01 Marchet, Silvia; Invernizzi, Federica; Blasevich, Flavia; Bruno, Valentina; Dusi, Sabrina; Venco, Paola; Fiorillo, Chiara; Baranello, Giovanni; Pallotti, Francesco; Lamantea, Eleonora; Mora, Marina; Tiranti, Valeria; Lamperti, Costanza.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A.
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14
2023-01-01 Severa, Gianmarco; Pennisi, Alessandra; Barnerias, Christine; Fiorillo, Chiara; Scala, Marcello; Taglietti, Valentina; Cojocaru, Andreea Iuliana; Jouni, Dima; Tosca, Lucie; Tachdjian, Gérard; Desguerre, Isabelle; Authier, François-Jérome; Carlier, Robert-Yves; Metay, Corinne; Verebi, Camille; Malfatti, Edoardo
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy
2024-01-01 Trucco, Federica; Lizio, Andrea; Roma, Elisabetta; di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Casiraghi, Jacopo; Pozzi, Susanna; Becchiati, Stefano; Antonaci, Laura; Salvalaggio, Anna; Catteruccia, Michela; Tosi, Michele; Marinella, Gemma; Danti, Federica R.; Bruschi, Fabio; Veneruso, Marco; Parravicini, Stefano; Fiorillo, Chiara; Berardinelli, Angela; Pini, Antonella; Moroni, Isabella; Astrea, Guja; Battini, Roberta; D'Amico, Adele; Ricci, Federica; Pane, Marika; Mercuri, Eugenio M.; Johnson, Nicholas E.; Sansone, Valeria A.
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders
2022-01-01 Baldacci, Jacopo; Calderisi, Marco; Fiorillo, Chiara; Santorelli, Filippo Maria; Rubegni, Anna
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2
2016-01-01 Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
2019-01-01 Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedì, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
2021-01-01 Bonora, E.; Chakrabarty, S.; Kellaris, G.; Tsutsumi, M.; Bianco, F.; Bergamini, C.; Ullah, F.; Isidori, F.; Liparulo, I.; Diquigiovanni, C.; Masin, L.; Rizzardi, N.; Cratere, M. G.; Boschetti, E.; Papa, V.; Maresca, A.; Cenacchi, G.; Casadio, R.; Martelli, P.; Matera, I.; Ceccherini, I.; Fato, R.; Raiola, G.; Arrigo, S.; Signa, S.; Sementa, A. R.; Severino, M.; Striano, P.; Fiorillo, C.; Goto, T.; Uchino, S.; Oyazato, Y.; Nakamura, H.; Mishra, S. K.; Yeh, Y. -S.; Kato, T.; Nozu, K.; Tanboon, J.; Morioka, I.; Nishino, I.; Toda, T.; Goto, Y. -I.; Ohtake, A.; Kosaki, K.; Yamaguchi, Y.; Nonaka, I.; Iijima, K.; Mimaki, M.; Kurahashi, H.; Raams, A.; Macinnes, A.; Alders, M.; Engelen, M.; Linthorst, G.; De Koning, T.; Den Dunnen, W.; Dijkstra, G.; Van Spaendonck, K.; Van Gent, D. C.; Aronica, E. M.; Picco, P.; Carelli, V.; Seri, M.; Katsanis, N.; Duijkers, F. A. M.; Taniguchi-Ikeda, M.; De Giorgio, R.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
2018-01-01 Astrea, Guja; Romano, Alessandro; Angelini, Corrado; Antozzi, Carlo Giuseppe; Barresi, Rita; Battini, Roberta; Battisti, Carla; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; Fanin, Marina; Fattori, Fabiana; Fiorillo, Chiara; Guerrini, Renzo; Maggi, Lorenzo; Mercuri, Eugenio; Morani, Federica; Mora, Marina; Moro, Francesca; Pezzini, Ilaria; Picillo, Esther; Pinelli, Michele; Politano, Luisa; Rubegni, Anna; Sanseverino, Walter; Savarese, Marco; Striano, Pasquale; Torella, Annalaura; Trevisan, Carlo Pietro; Trovato, Rosanna; Zaraieva, Irina; Muntoni, Francesco; Nigro, Vincenzo; D'Amico, Adele; Santorelli, Filippo M.
Case report: Episodic ataxia without ataxia?
2023-01-01 Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
2015-01-01 Fattori, F.; Maggi, L.; Bruno, C.; Cassandrini, D.; Codemo, V.; Catteruccia, M.; Tasca, G.; Berardinelli, A.; Magri, F.; Pane, M.; Rubegni, A.; Santoro, L.; Ruggiero, L.; Fiorini, P.; Pini, A.; Mongini, T.; Messina, S.; Brisca, G.; Colombo, I.; Astrea, G.; Fiorillo, C.; Bragato, C.; Moroni, I.; Pegoraro, E.; D'Apice, M. R.; Alfei, E.; Mora, M.; Morandi, L.; Donati, A.; Evila, A.; Vihola, A.; Udd, B.; Bernansconi, P.; Mercuri, E.; Santorelli, F. M.; Bertini, E.; D'Amico, A.
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
2018-01-01 Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
2021-01-01 Mohassel, P.; Donkervoort, S.; Lone, M. A.; Nalls, M.; Gable, K.; Gupta, S. D.; Foley, A. R.; Hu, Y.; Saute, J. A. M.; Moreira, A. L.; Kok, F.; Introna, A.; Logroscino, G.; Grunseich, C.; Nickolls, A. R.; Pourshafie, N.; Neuhaus, S. B.; Saade, D.; Gangfuss, A.; Kolbel, H.; Piccus, Z.; Le Pichon, C. E.; Fiorillo, C.; Ly, C. V.; Topf, A.; Brady, L.; Specht, S.; Zidell, A.; Pedro, H.; Mittelmann, E.; Thomas, F. P.; Chao, K. R.; Konersman, C. G.; Cho, M. T.; Brandt, T.; Straub, V.; Connolly, A. M.; Schara, U.; Roos, A.; Tarnopolsky, M.; Hoke, A.; Brown, R. H.; Lee, C. -H.; Hornemann, T.; Dunn, T. M.; Bonnemann, C. G.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors | 1-gen-2022 | Stella, M; Biassoni, E; Fiorillo, C; Grandis, M; Mattioli, F; Del Sette, M | |
| A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY | 1-gen-2023 | Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M | |
| A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers | 1-gen-2023 | Geroldi, A.; Tozza, S.; Fiorillo, C.; Nolano, M.; Fossa, P.; Vitale, F.; Domi, R.; Gaudio, A.; Mammi, A.; Patrone, S.; Barbera, A. L.; Origone, P.; Ponti, C.; Sanguineri, F.; Zara, F.; Cataldi, M.; Salpietro, V.; Venturi, C. B.; Massucco, S.; Schenone, A.; Manganelli, F.; Mandich, P.; Bellone, E.; Gotta, F. | |
| A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy | 1-gen-2019 | Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina. | |
| A rare mutation in MYH7 gene occurs with overlapping phenotype | 1-gen-2015 | Ruggiero, L.; Fiorillo, C.; Gibertini, S.; De Stefano, F.; Manganelli, F.; Iodice, R.; Vitale, F.; Zanotti, S.; Galderisi, M.; Mora, M.; Santoro, L. | |
| Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. | 1-gen-2011 | Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C. | |
| Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene | 1-gen-2019 | Marchet, Silvia; Invernizzi, Federica; Blasevich, Flavia; Bruno, Valentina; Dusi, Sabrina; Venco, Paola; Fiorillo, Chiara; Baranello, Giovanni; Pallotti, Francesco; Lamantea, Eleonora; Mora, Marina; Tiranti, Valeria; Lamperti, Costanza. | |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | 1-gen-2019 | Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A. | |
| An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 | 1-gen-2023 | Severa, Gianmarco; Pennisi, Alessandra; Barnerias, Christine; Fiorillo, Chiara; Scala, Marcello; Taglietti, Valentina; Cojocaru, Andreea Iuliana; Jouni, Dima; Tosca, Lucie; Tachdjian, Gérard; Desguerre, Isabelle; Authier, François-Jérome; Carlier, Robert-Yves; Metay, Corinne; Verebi, Camille; Malfatti, Edoardo | |
| An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
| Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy | 1-gen-2024 | Trucco, Federica; Lizio, Andrea; Roma, Elisabetta; di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Casiraghi, Jacopo; Pozzi, Susanna; Becchiati, Stefano; Antonaci, Laura; Salvalaggio, Anna; Catteruccia, Michela; Tosi, Michele; Marinella, Gemma; Danti, Federica R.; Bruschi, Fabio; Veneruso, Marco; Parravicini, Stefano; Fiorillo, Chiara; Berardinelli, Angela; Pini, Antonella; Moroni, Isabella; Astrea, Guja; Battini, Roberta; D'Amico, Adele; Ricci, Federica; Pane, Marika; Mercuri, Eugenio M.; Johnson, Nicholas E.; Sansone, Valeria A. | |
| Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders | 1-gen-2022 | Baldacci, Jacopo; Calderisi, Marco; Fiorillo, Chiara; Santorelli, Filippo Maria; Rubegni, Anna | |
| Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 | 1-gen-2016 | Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo | |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course | 1-gen-2019 | Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedì, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo. | |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy | 1-gen-2021 | Bonora, E.; Chakrabarty, S.; Kellaris, G.; Tsutsumi, M.; Bianco, F.; Bergamini, C.; Ullah, F.; Isidori, F.; Liparulo, I.; Diquigiovanni, C.; Masin, L.; Rizzardi, N.; Cratere, M. G.; Boschetti, E.; Papa, V.; Maresca, A.; Cenacchi, G.; Casadio, R.; Martelli, P.; Matera, I.; Ceccherini, I.; Fato, R.; Raiola, G.; Arrigo, S.; Signa, S.; Sementa, A. R.; Severino, M.; Striano, P.; Fiorillo, C.; Goto, T.; Uchino, S.; Oyazato, Y.; Nakamura, H.; Mishra, S. K.; Yeh, Y. -S.; Kato, T.; Nozu, K.; Tanboon, J.; Morioka, I.; Nishino, I.; Toda, T.; Goto, Y. -I.; Ohtake, A.; Kosaki, K.; Yamaguchi, Y.; Nonaka, I.; Iijima, K.; Mimaki, M.; Kurahashi, H.; Raams, A.; Macinnes, A.; Alders, M.; Engelen, M.; Linthorst, G.; De Koning, T.; Den Dunnen, W.; Dijkstra, G.; Van Spaendonck, K.; Van Gent, D. C.; Aronica, E. M.; Picco, P.; Carelli, V.; Seri, M.; Katsanis, N.; Duijkers, F. A. M.; Taniguchi-Ikeda, M.; De Giorgio, R. | |
| Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study | 1-gen-2018 | Astrea, Guja; Romano, Alessandro; Angelini, Corrado; Antozzi, Carlo Giuseppe; Barresi, Rita; Battini, Roberta; Battisti, Carla; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; Fanin, Marina; Fattori, Fabiana; Fiorillo, Chiara; Guerrini, Renzo; Maggi, Lorenzo; Mercuri, Eugenio; Morani, Federica; Mora, Marina; Moro, Francesca; Pezzini, Ilaria; Picillo, Esther; Pinelli, Michele; Politano, Luisa; Rubegni, Anna; Sanseverino, Walter; Savarese, Marco; Striano, Pasquale; Torella, Annalaura; Trevisan, Carlo Pietro; Trovato, Rosanna; Zaraieva, Irina; Muntoni, Francesco; Nigro, Vincenzo; D'Amico, Adele; Santorelli, Filippo M. | |
| Case report: Episodic ataxia without ataxia? | 1-gen-2023 | Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola | |
| Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort | 1-gen-2015 | Fattori, F.; Maggi, L.; Bruno, C.; Cassandrini, D.; Codemo, V.; Catteruccia, M.; Tasca, G.; Berardinelli, A.; Magri, F.; Pane, M.; Rubegni, A.; Santoro, L.; Ruggiero, L.; Fiorini, P.; Pini, A.; Mongini, T.; Messina, S.; Brisca, G.; Colombo, I.; Astrea, G.; Fiorillo, C.; Bragato, C.; Moroni, I.; Pegoraro, E.; D'Apice, M. R.; Alfei, E.; Mora, M.; Morandi, L.; Donati, A.; Evila, A.; Vihola, A.; Udd, B.; Bernansconi, P.; Mercuri, E.; Santorelli, F. M.; Bertini, E.; D'Amico, A. | |
| Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. | 1-gen-2018 | Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G. | |
| Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis | 1-gen-2021 | Mohassel, P.; Donkervoort, S.; Lone, M. A.; Nalls, M.; Gable, K.; Gupta, S. D.; Foley, A. R.; Hu, Y.; Saute, J. A. M.; Moreira, A. L.; Kok, F.; Introna, A.; Logroscino, G.; Grunseich, C.; Nickolls, A. R.; Pourshafie, N.; Neuhaus, S. B.; Saade, D.; Gangfuss, A.; Kolbel, H.; Piccus, Z.; Le Pichon, C. E.; Fiorillo, C.; Ly, C. V.; Topf, A.; Brady, L.; Specht, S.; Zidell, A.; Pedro, H.; Mittelmann, E.; Thomas, F. P.; Chao, K. R.; Konersman, C. G.; Cho, M. T.; Brandt, T.; Straub, V.; Connolly, A. M.; Schara, U.; Roos, A.; Tarnopolsky, M.; Hoke, A.; Brown, R. H.; Lee, C. -H.; Hornemann, T.; Dunn, T. M.; Bonnemann, C. G. |