학술논문
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'학술논문'
에서 검색결과 190건 | 목록
1~20
Academic Journal
Beccari, T ; Mancuso, F ; Costanzi, E ; Tassi, C ; Barone, R ; Fiumara, A ; Orlacchio, An ; Aisa, M.C ; Orlacchio, A
In Clinica Chimica Acta 2000 302(1):125-132
Academic Journal
Mongini T; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy. tizianaenrica.mongini@unito.it.; Gadaleta G; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Alonge P; Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy.; Vercelli L; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Stura I; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.; Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Ravaglia S; IRCCS Mondino Foundation, Pavia, Italy.; Ruggiero L; Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples 'Federico II', Naples, Italy.; Fiumara A; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Barone R; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Servidei S; Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; Sancricca C; Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Fondazione UILDM Lazio Onlus, Rome, Italy.; Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Sechi A; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.; Tonin P; Section of Clinical Neurology, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Pegoraro E; Department of Neurosciences DNS, University of Padova, Padua, Italy.; Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.; D'Angelo G; Unit of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E Medea, Bosisio Parini, Italy.; Comi G; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Ospedale Maggiore Policlinico, Milan, Italy.; Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.; Barp A; NeuroMuscular Omnicentre (NeMO) Trento, Villa Rosa Hospital, Pergine Valsugana, Italy.; Crescimanno G; National Research Council, Institute of Biomedical Research and Innovation (IRIB-CNR), Palermo, Italy.; Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center of Messina for Neuromuscular Disorders, University of Messina, Messina, Italy.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Academic Journal
Di Nora A; Department of Clinical and Experimental Medicine, University of Catania Postgraduate Training Program in Pediatrics, Catania, Italy. alessandradinora@gmail.com.; Costanza G; Department of Clinical and Experimental Medicine, University of Catania Postgraduate Training Program in Pediatrics, Catania, Italy.; Pizzo F; Department of Clinical and Experimental Medicine, University of Catania Postgraduate Training Program in Pediatrics, Catania, Italy.; Di Mari A; Department of Radiology, University of Catania Postgraduate Training Program in Radiology, Catania, Italy.; Sapuppo A; Department of Pediatric Neurology, University of Catania, Catania, Italy.; Basile A; Radiology Unit, Policlinico G.Rodolico, Catania, Italy, University of Catania, 95123, Catania, Italy.; Fiumara A; Department of Pediatric Neurology, University of Catania, Catania, Italy.; Pavone P; Department of Pediatric Neurology, University of Catania, Catania, Italy.
Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE
Academic Journal
D. Concolino; L. Amico; M.D. Cappellini; E. Cassinerio; M. Conti; M. A. Donati; F. Falvo; A. Fiumara; M. Maccarone; R. Manna; A. Matucci; M. B. Musumeci; A. Nicoletti; R. Nisticò; F. Papadia; R. Parini; D. Peluso; L. Pensabene; A. Pisani; G. Pistone; M. Rigoldi; I. Romani; M. Tenuta; G. Torti; M. Veroux; E. Zachara
Mol Genet Metab Rep
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)
Academic Journal
Romano C; Department Clinical and Experimental Medicine, Child and Adolescent Neuropsychiatry, University of Catania, Catania, Italy. ppavone@unict.it.; Cho SY; Marino S; Raucci U; Fiumara A; Falsaperla R; Massimino CR; Taibi R; Greco F; Venti V; Sullo F; Fontana A; Rizzo R; Pustorino E; Jin DK; Pavone P
Publisher: Verduci Country of Publication: Italy NLM ID: 9717360 Publication Model: Print Cited Medium: Internet ISSN: 2284-0729 (Electronic) Linking ISSN: 11283602 NLM ISO Abbreviation: Eur Rev Med Pharmacol Sci Subsets: MEDLINE
Academic Journal
Ferri, L; Guido, C; la Marca, G; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, R; Giglio, S; Della Valle, C M; Wu, X; Valenzano, K J; Benjamin, E R; Donati, M A; Guerrini, R; Genuardi, M; Morrone, A
Clinical Genetics. Mar 01, 2012 81(3):224-233
Academic Journal
Clinical Genetics. Nov 01, 2011 80(5):452-458
Academic Journal
Mostile G; Neurology Clinic, Department 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania, Italy.; Barone R; Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Institute for Polymers Composites and Biomaterials, CNR, Catania, Italy.; Nicoletti A; Neurology Clinic, Department 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania, Italy.; Rizzo R; Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Sturiale L; Institute for Polymers Composites and Biomaterials, CNR, Catania, Italy.; Fiumara A; Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Jankovic J; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Zappia M; Neurology Clinic, Department 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania, Italy.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Academic Journal
Di Rocco, M; Barone, R; Adami, A; Burlina, A; Carrozzi, M; Dionisi-Vici, C; Gatti, R; Iannetti, P; Parini, R; Raucci, U; Roccella, M; Spada, M; Fiumara, A
Journal of Inherited Metabolic Disease. Jun 01, 2000 23(4):391-395
Academic Journal
Journal of Inherited Metabolic Disease. Jun 01, 2000 23(4):387-390
Academic Journal
Abeling, N G. G. M; Bräutigam, C; Hoffmann, G F; Barth, P G; Wevers, R A; Jaeken, J; Fiumara, A; Knust, A; van Gennip, A H
Journal of Inherited Metabolic Disease. Jun 01, 2000 23(4):325-328
Academic Journal
Siciliano, L; Fiumara, A; Pavone, L; Freeman, C; Robertson, D; Morris, C P; Hopwood, J J; Di Natale, P; Musumeci, S; Horwitz, A L
Journal of Medical Genetics; Jun1991, Vol. 28 Issue 6, p402-405, 4p, 3 Black and White Photographs
Academic Journal
Vita, Giuseppe; Migliorato, Alba; Toscano, Antonio; Bordoni, Andreina; Bresolin, Nereo; Fiumara, Agata; Messina, Corrado; Vita, G; Migliorato, A; Toscano, A; Bordoni, A; Bresolin, N; Fiumara, A; Messina, C
Muscle & Nerve; 1994, Vol. 17 Issue 6, p655-661, 7p
Academic Journal
BEMBI B; PISA FE; CONFALONIERI M; CIANA G; FIUMARA, Agata; PARINI R; RIGOLDI M; MOGLIA A; COSTA A; CARLUCCI A; DANESINO C; PITTIS MG; DARDIS A; RAVAGLIA S.
Journal of Inherited Metabolic Disease. 33:727-735
Academic Journal
Lucarelli, P; Palminiello, S; SACCUCCI, PATRIZIA; BOTTINI, NUNZIO; De Luca, D; Elia, M; Fiumara, A; CURATOLO, PAOLO
119 (2003): 242–246.
info:cnr-pdr/source/autori:Lucarelli P, Palminiello S, Saccucci P, Bottini N, De Luca D, Elia M, Fiumara A, Curatolo P./titolo:Association study of autistic disorder and chromosome 16p./doi:/rivista:/anno:2003/pagina_da:242/pagina_a:246/intervallo_pagine:242–246/volume:119
info:cnr-pdr/source/autori:Lucarelli P, Palminiello S, Saccucci P, Bottini N, De Luca D, Elia M, Fiumara A, Curatolo P./titolo:Association study of autistic disorder and chromosome 16p./doi:/rivista:/anno:2003/pagina_da:242/pagina_a:246/intervallo_pagine:242–246/volume:119
Academic Journal
Ng, BG; Shiryaev, SA; Rymen, D; Eklund, EA; Raymond, K; Kircher, M; Abdenur, JE; Alehan, F; Midro, AT; Bamshad, MJ; Barone, R; Berry, GT; Brumbaugh, JE; Buckingham, KJ; Clarkson, K; Cole, FS; O'Connor, S; Cooper, GM; Van Coster, R; Demmer, LA; Diogo, L; Fay, AJ; Ficicioglu, C; Fiumara, A; Gahl, WA; Ganetzky, R; Goel, H; Harshman, LA; He, M; Jaeken, J; James, PM; Katz, D; Keldermans, L; Kibaek, M; Kornberg, AJ; Lachlan, K; Lam, C; Yaplito-Lee, J; Nickerson, DA; Peters, HL; Race, V; Regal, L; Rush, JS; Rutledge, SL; Shendure, J; Souche, E; Sparks, SE; Trapane, P; Sanchez-Valle, A; Vilain, E; Vollo, A; Waechter, CJ; Wang, RY; Wolfe, LA; Wong, DA; Wood, T; Yang, AC; Washington, U; Matthijs, G; Freeze, HH
Human Mutation, vol 37, iss 7
Academic Journal
Patterson, M. C; Mengel, E; Vanier, M. T; Schwierin, B; Muller, A; Cornelisse, P; Pineda, M; Amado-Fondo, A; Amraoui, Y; Andria, G; Arellano, M; Audoin, B; Azcona, C; Barr, C; Baruteau, J; Baumgartner, C; Bell, L; Bembi, B; Benneddif, K; Bernard, G; Bobocea, N; Bodzioch, M; Boettcher, T; Bonnan, M; Broue, P; Bruni, A; Caceres, M; Camino, R; Campbell, E; Cances, C; Cannell, P; Cesar, J; Chabrol, B; Chakrapani, A; Colao, R; Collet, A; Corsetti, T; Cousins, A; Covanis, A; Cox, T; Cuisset, J. M; Dardis, A; Das, A; Deegan, P; Dengler, T; Deodato, F; Derralynn, H; Di Donato, I; Di Rocco, M; Dinopoulos, A; Pakiela, D; Eckehard, S; Engelen, M; Eyer, D; Fecarotta, S; Federico, A; Filla, A; Fiumara, A; Fonseca, M. J; Gabrielli, O; Garcia, T; Garrote, J; Gissen, P; Giugliani, L; Greenberg, C; Heron, B; Hertzberg, C; Higgins, F; Hill, A; Hiwot, T; Hlavata, A; Hörbe-Blindt A; Howley, E; Hussain, N; Illsinger, S; Imrie, J; Jacklin, E; Jones, S; Jovanovic, A; Kaczmarek, V; Kaphan, E; Kibaek, M; Kleinhans, P; Klünemann KH; Koch, S. M; Koegl-Wallner, W; Kolnikova, M; Korenke, G. C; Korinthenberg, R; Kumari, S; Lachmann, R; Lee Ann, L; Likopoulou, L; Lilienthal, E; Link, B; Lippold, M; Lopez-Laso, E; Luecke, T; Lundgren, J; Mackrell, M; Madruga, M; Maletta, R; Malinova, V; Manners, J; Marinei, R; Marquardt, T; Martins, E; Martins, A. M; Martins, N; McAlister, L; McCabe, A; McKie, M; McMahon, S; Meehan, M; Meldgaard Lund, A; Mendozah, C; Meyer, A; Mielke, S; Milligan, A; Mir, P; Moisa, M; Mombelli, C; Morris, L; Müller Vom Hagen, J; Munoz, B; Murphy, E; Nagarajan, L; Neto, P. B; Nevsimalova, S; Nia, S; Nicolai, J; Niemann, D; Niktari, G; O'Callaghan, M. D. M; Paucar-Arce, M; Peers, K; Peintinger, L; Peralta, M; Pérez, J; Perez-Poyato, M; Petrariu, A; Puschmann, A; Raiman, J; Rask, O; Rataj, J; Raymond-Gaynor, C; Reichelt, G; Ribeiro, E; Riches, V; Roberts, A; Roelants, J; Rohrbach, M; Rokicki, D; Rolfs, A; Russo, C; Rutsch, F; Saleem, R; Santos, M; Schmutz, P; Schwahn, B; Sedel, F; Semotok, J; Sharma, R; Silska, S; Silva, A; Simmons, L; Sivera, R; Skorpen, J; Sole, G; Souza, C; Stadlober-Degwerth, M; Starling, J; Temudo, T; Tomas, M; Tranchant, C; Uziel, G; Valayannopoulous, V; Van Den Hout, H; Van Der Tol, L; Van Spronsen, F; Vellodi, A; Verdu, A; Vilchez, J. J; Vinaixa, A; Visser, G; Voelker, J; Waldek, S; Walter, A; Walterfang, M; Wein, U; Widner, H; Wilcke, C; Wildish, L; Wraith, E; Wright, N; Xaidara, A; Yamamoto, M; Zallocco, F; Zielke, S
Orphanet J Rare Dis
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Academic Journal
Neurogenetics. 3:111-113
Academic Journal
Gabrielli, O; Zampini, L; Monachesi, C; Marchesiello, Rl; Padella, L; Santoro, L; VOLPI, Nicola; Concolino, D; Fiumara, A; Rigon, L; Mazzoli, M; Carnielli, Vp; Giovagnoni, A; Catassi, C; Galeazzi, T; Coppa, Gv
Clinica Chimica Acta. 468:150-151
Academic Journal
Barone R; Pediatric Neurology Policlinico, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy, rbarone@unict.it.; Carrozzi M; Parini R; Battini R; Martinelli D; Elia M; Spada M; Lilliu F; Ciana G; Burlina A; Leuzzi V; Leoni M; Sturiale L; Matthijs G; Jaeken J; Di Rocco M; Garozzo D; Fiumara A
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
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