IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 21 a 40 di 45
Titolo Data di pubblicazione Autore(i) File
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature 1-gen-2016 Biasini, Fiammetta; Portaro, Simona; Mazzeo, Anna; Vita, Giuseppe; Fabrizi, G. M.; Taioli, F.; Toscano, Antonio; Rodolico, Carmelo
Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature. 1-gen-2016 Sindoni, Alessandro; Rodolico, Carmelo; Portaro, Simona; Benvenga, Salvatore; Pappalardo, Maria Angela
Flecainide-responsive myotonia permanens with SNEL onset: A new case and literature review 1-gen-2016 PORTARO, SIMONA; RODOLICO, Carmelo; Sinicropi, S.; MUSUMECI, Olimpia; VALENZISE, Mariella; TOSCANO, Antonio
Advances in assessing myotonia: Can sensor-engineered glove have a role? 1-gen-2017 Portaro, Simona; Russo, Margherita; Naro, Antonino; Bramanti, Alessia; Bramanti, Placido; Rodolico, Carmelo; Calabrò, Rocco Salvatore
Telemedicine for Facio-Scapulo-Humeral Muscular Dystrophy: A multidisciplinary approach to improve quality of life and reduce hospitalization rate? 1-gen-2017 Portaro, Simona; Calabrò, Rocco Salvatore; Bramanti, Placido; Silvestri, Giuseppe; Torrisi, Michele; Conti-Nibali, Valeria; Caliri, Santina; Lunetta, Christian; Alagna, Bernardo; Naro, Antonino; Bramanti, Alessia
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports 1-gen-2017 Portaro, Simona; Brizzi, Teresa; Sinicropi, Stefano; Cacciola, Alberto; De Cola, Maria Cristina; Bramanti, Alessia; Milardi, Demetrio; Lupica, Antonino; Bramanti, Placido; Toscano, Antonio; Rodolico, Carmelo
Toward a more personalized motor function rehabilitation in myotonic dystrophy type 1: The role of neuroplasticity 1-gen-2017 Portaro, Simona; Naro, Antonino; Chillura, Antonino; Billeri, Luana; Bramanti, Alessia; Bramanti, Placido; Rodolico, Carmelo; Calabro', Rocco Salvatore
Telerehabilitation in individuals with severe acquired brain injury 1-gen-2018 Calabrò, Rocco Salvatore; Bramanti, Alessia; Garzon, Martina; Celesti, Antonio; Russo, Margherita; Portaro, Simona; Naro, Antonino; Manuli, Alfredo; Tonin, Paolo; Bramanti, Placido
Force and strain during horseback riding: bridging the gap between theory and clinical practice 1-gen-2018 Portaro, Simona; Filardi, Vincenzo; Naro, Antonino; Cacciola, Alberto; Andronaco, Veronica; Gatani, Umberto; Calabrò, Rocco S; Gemelli, Gaetano; Milardi, Demetrio; Bramanti, Alessia
Chasing the chameleon: Psychogenic paraparesis responding to non-invasive brain stimulation 1-gen-2018 Portaro, Simona; Milardi, Demetrio; Naro, Antonino; Chillura, Antonio; Corallo, Francesco; Quartarone, Angelo; Calabrò, Rocco Salvatore
A case report of recessive myotonia congenita and early onset cognitive impairment 1-gen-2018 Portaro, Simona; Cacciola, Alberto; Naro, Antonino; Milardi, Demetrio; Morabito, Rosa; Corallo, Francesco; Marino, Silvia; Bramanti, Alessia; Mazzon, Emanuela; Calabrò, Rocco Salvatore
Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report 1-gen-2018 Portaro, Simona; Naro, Antonino; Guarneri, Claudio; Di Toro, Giuseppe; Manuli, Alfredo; Calabrò, Rocco Salvatore
Can muscle vibration be the future in the treatment of cerebral palsy-related drooling? A feasibility study 1-gen-2019 Russo, E. F.; Calabro, R. S.; Sale, P.; Vergura, F.; De Cola, M. C.; Militi, A.; Bramanti, P.; Portaro, S.; Filoni, S.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 1-gen-2019 Salpietro, Vincenzo; Malintan, Nancy T.; Llano-Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria C.; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce-Grau, Anna; Raspall-Chaure, Miquel; Martin-Hernandez, Elena; Zara, Federico; Minetti, Carlo; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Pironti, Erica; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; Garavaglia, Barbara; Scuderi, Carmela; Borgione, Eugenia; Dipasquale, Valeria; Cutrupi, Maria Concetta; Portaro, Simona; Sanchez, Benigno Monteagudo; Pineda-Marfa, Mercedes; Munell, Francina; Macaya, Alfons; Boles, Richard; Heimer, Gali; Papacostas, Savvas; Manole, Andreea; Malintan, Nancy; Zanetti, Maria Natalia; Hanna, Michael G.; Rothman, James E.; Kullmann, Dimitri M.; Houlden, Henry; Bello, Oscar D.; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Mau-Them, Frederic Tran; Faivre, Laurence; Martinez-Azorin, Francisco; Prada, Carlos E.; Krishnakumar, Shyam S.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 1-gen-2019 Chelban, V(1)(2); Wilson, MP(3); Warman Chardon, J(4)(5)(6); Vandrovcova, J(1); Zanetti, MN(7); Zamba-Papanicolaou, E(8)(9); Efthymiou, S(1); Pope, S(10); Conte, MR(11); Abis, G(11); Liu, YT(12)(13)(14); Tribollet, E(1); Haridy, NA(1)(15); Botía, JA(16)(17); Ryten, M(16)(18); Nicolaou, P(8)(9); Minaidou, A(8)(9); Christodoulou, K(8)(9); Kernohan, KD(6)(19); Eaton, A(6); Osmond, M(6); Ito, Y(6); Bourque, P(4)(5); Jepson, JEC(7); Bello, O(7); Bremner, F(20); Cordivari, C(21); Reilly, MM(1); Foiani, M(21)(22); Heslegrave, A(22)(23); Zetterberg, H(22)(23)(24)(25); Heales, SJR(10); Wood, NW(1)(26); Rothman, JE(7)(27); Boycott, KM(6); Mills, PB(3); Clayton, PT(3); Houlden, H(1)(26); Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y; Khorassani, Me; Aguennouz, M; Groppa, S; Marinova Karashova, B; Van Maldergem, L; Nachbauer, W; Boesch, S; Arning, L; Timmann, D; Cormand, B; Pérez-Dueñas, B; Di Rosa, G; Goraya, Js; Sultan, T; Mine, J; Avdjieva, D; Kathom, H; Tincheva, R; Banu, S; Pineda-Marfa, M; Veggiotti, P; Ferrari, Md; van den Maagdenberg, Amjm; Verrotti, A; Marseglia, G; Savasta, S; García-Silva, M; Ruiz, Am; Garavaglia, B; Borgione, E; Portaro, S; Sanchez, Bm; Boles, R; Papacostas, S; Vikelis, M; Rothman, J; Giunti, P; Houlden, H; Chelban, V; Salpietro, V; Oconnor, E; Efthymiou, S; Kullmann, D; Kaiyrzhanov, R; Sullivan, R; Khan, Am; Yau, Wy; Hostettler, I; Papanicolaou, Ez; Dardiotis, E; Maqbool, S; Ibrahim, S; Kirmani, S; Rana, Nn; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Mangano, S; Scuderi, C; Borgione, E; Morello, G; Stojkovic, T; Torti, E; Zollo, M; Heimer, G; Dauvilliers, Ya; Striano, P; Al-Khawaja, I; Al-Mutairi, F; Alkuraya, Fs; Sherifa, H; Rizig, M; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Oguntunde, O; Pchelina, S; Senkevich, K; Haridy, N; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Bourinaris, T; Xiromerisiou, G; Fidani, L; Spanaki, C; Tucci, A.
Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: A pilot study focusing on muscle networks 1-gen-2019 Naro, A.; Portaro, S.; Milardi, D.; Billeri, L.; Leo, A.; Militi, D.; Bramanti, P.; Calabro, R. S.
New versus Old Oral Anticoagulants: How can we set the Scale needle? Considerations on a Case Report 1-gen-2019 Arcadi, Fa; Portaro, S; Giorgianni, R; Naro, A; Casella, C; Genovese, C; Marino, S; Calabrò, Rs
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 1-gen-2020 Rodolico, C.; Politano, L.; Portaro, S.; Murru, S.; Boccone, L.; Sera, F.; Passamano, L.; Brizzi, T.; Tupler, R.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification 1-gen-2020 Schottlaender, L. V.; Abeti, R.; Jaunmuktane, Z.; Macmillan, C.; Chelban, V.; O'Callaghan, B.; Mckinley, J.; Maroofian, R.; Efthymiou, S.; Athanasiou-Fragkouli, A.; Forbes, R.; Soutar, M. P. M.; Livingston, J. H.; Kalmar, B.; Swayne, O.; Hotton, G.; Synaps Study, Group.; Aguennouz, M.; Groppa, S.; Karashova, B. M.; Nachbauer, W.; Boesch, S.; Arning, L.; Timmann, D.; Cormand, B.; Perez-Duenas, B.; Di Rosa, G.; Goraya, J. S.; Sultan, T.; Mine, J.; Avdjieva, D.; Kathom, H.; Tincheva, R.; Banu, S.; Pineda-Marfa, M.; Veggiotti, P.; Ferrari, M. D.; Verrotti, A.; Marseglia, G.; Savasta, S.; Garcia-Silva, M.; Ruiz, A. M.; Garavaglia, B.; Borgione, E.; Portaro, S.; Sanchez, B. M.; Boles, R.; Papacostas, S.; Vikelis, M.; Papanicolaou, E. Z.; Dardiotis, E.; Maqbool, S.; Ibrahim, S.; Kirmani, S.; Rana, N. N.; Atawneh, O.; Koutsis, G.; Breza, M.; Mangano, S.; Scuderi, C.; Morello, G.; Stojkovic, T.; Zollo, M.; Heimer, G.; Dauvilliers, Y. A.; Striano, P.; Al-Khawaja, I.; Al-Mutairi, F.; Sherifa, H.; Pittman, A.; Mendes de Oliveira, J. R.; de Grandis, M.; Richard-Loendt, A.; Launchbury, F.; Althonayan, J.; Mcdonnell, G.; Carr, A.; Khan, S.; Beetz, C.; Bisgin, A.; Tug Bozdogan, S.; Begtrup, A.; Torti, E.; Greensmith, L.; Giunti, P.; Morrison, P. J.; Brandner, S.; Aurrand-Lions, M.; Houlden, H.
A dental implant dislocated in the ethmoidal sinus: a case report 1-gen-2020 Cascio, F.; Basile, G. A.; Debes Felippu, A. W.; Debes Felippu, A. W.; Trimarchi, F.; Militi, D.; Portaro, S.; Bramanti, A.
Mostrati risultati da 21 a 40 di 45
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile