부산대학교 도서관

Lopergolo D.; Bianchi S.; Gallus G. N.; Locci S.; Pucci B.; Leoni V.; Gasparini D.; Tardelli E.; Chincarini A.; Sestini S.; Santorelli F. M.; Zetterberg H.; De Stefano N.; Mignarri A.

Journal of Medical Genetics. 61:332-339

Rufa A; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; EVAlab, Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Plantone D; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Bargagli A; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; EVAlab, Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Righi D; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Bacci T; Ophthalmology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Serchi V; EVAlab, Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Gallus GN; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Lopergolo D; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Pretegiani E; EVAlab, Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Department of Clinical Neurosciences, Centre Hospitalier Universitaire Vaudois (CHUV), 1005 Lausanne, Switzerland.; Rosini F; EVAlab, Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Stroke Unit, Department of Emergency-Urgency and Transplants, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Locci S; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; Tosi GM; Ophthalmology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.; De Stefano N; Neurology, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Gasparini D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Pucci B; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; Tripodi D; Laboratory of Clinical Pathology and Toxicology, Hospital Pio XI of Desio, ASST Brianza, School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy.; Department of Science and Technology (DST), University of Sannio, Benevento, Italy.; Leoni V; Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.; Chincarini A; National Institute of Nuclear Physics (INFN), Genoa, Italy.; Sestini S; Department of Diagnostic Imaging, Unit of Nuclear Medicine, PO-S. Stefano, Azienda U.S.L. Toscana Centro, Prato, Italy.; Zetterberg H; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; UK Dementia Research Institute at UCL, London, UK.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; Hong Kong Center for Neurodegenerative Diseases, Shatin, Hong Kong SAR, China.; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA.; De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Mignarri A; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Lopergolo D.; Berti G.; Mari F.; Bertini E.; Rufa A.; Battisti C.; Sicurelli F.; Renieri A.; Federico A.; Sandhoff K.; Malandrini A.

Neurological Sciences. 43:2849-2852

McNeill A.; Iovino E.; Mansard L.; Vache C.; Baux D.; Bedoukian E.; Cox H.; Dean J.; Goudie D.; Kumar A.; Newbury-Ecob R.; Fallerini C.; Renieri A.; Lopergolo D.; Mari F.; Blanchet C.; Willems M.; Roux A. -F.; Pippucci T.; Delpire E.

Brain. 143:2380-2387

Bortolani, S; Savarese, M; Vattemi, G; Bonanno, S; Falzone, YM; Pugliese, A; Primiano, G; Sancricca, C; Lopergolo, D; Greco, G; Gemelli, C; Ravaglia, S; Bencivenga, RP; Velardo, D; Magri, F; Valentino, ML; Cheli, M; Torchia, E; Lucchini, M; Petrucci, A; Ricci, G; Garibaldi, M; Astrea, G; Rubegni, A; Angelini, CI; Ariatti, A; Santorelli, FM; Ruggieri, A; Antonini, G; Siciliano, G; Filosto, M; Mirabella, M; Liguori, R; Comi, GP; Ruggiero, L; Grandis, M; Massa, R; Malandrini, A; Servidei, S; Mongini, TE; Rodolico, C; Toscano, A; Previtali, SC; Tonin, P; Diaz-Manera, J; Monforte, M; Ricci, E; Maggi, L; Tasca, G

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Gemelli, IRCCS, Rome, Italy.; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; Servidei S; Fondazione Policlinico Universitario A. 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Bordeaux, Inserm U1211 MRGM, Bordeaux, France.; CHU Bordeaux, Service de Pathologie, Bordeaux, France.; Tranchant C; Service de Neurologie, HôpitauxUniversitaires de Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Fédération de MédecineTranslationnelle de Strasbourg (FMTS), Université de Strasbourg, France.; Salort-Campana E; Neuromuscular reference center PACA Réunion Rhône Alpes, department of Pr Attarian, La Timone Hospital, CHU deMarseille, 264 Rue Saint-Pierre, France.; FILNEMUS, neuromuscular rare diseases health care professional network, La Timone hospital, CHU de Marseille, 264 Rue Saint-Pierre, France.; Bieth E; Service de GénétiqueMédicale, Hopital Purpan, Toulouse, France.; Sacconi S; Peripheral Nervous System and Muscle Department, Université Cote d'Azur, CHU, Nice, France.; Duval F; Service de Neurologie et Maladies Neuromusculaires (F.D.), Groupe Hospitalier Pellegrin, Hôpitaux de Bordeaux.; Restrepo Vera JL; Department of Neurology, NeuromuscularDiseases Unit, Hospital Universitari Vall d'Hebron, UniversitatAutònoma de Barcelona, Spain.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.; Haas R; Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, CA.; Larson A; Section of Genetics, Department of Pediatrics, University of Colorado Denver and Children's Hospital Colorado, Aurora, CO.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital, Palo Alto, CA.; Parikh S; Mitochondrial Medicine Center, Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, OH.; Goldstein A; Children's Hospital of Philadelphia, PA; and.; Hirano M; Department of Neurology, Columbia University Medical Center, New York.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

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MUSCLE & NERVE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname
Siddiqi, Z A, Nowak, R J, Mozaffar, T, O'Brien, F, Yountz, M, Patti, F, Mazia, C G, Wilken, M, Wilken, M, Barroso, F, Saba, J, Rugiero, M, Bettini, M, Chaves, M, Vidal, G, Garcia, A D, De Bleecker, J, Van den Abeele, G, de Koning, K, De Mey, K, Mercelis, R, Mahieu, D, Wagemaekers, L, Van Damme, P, Depreitere, A, Schotte, C, Smetcoren, C, Stevens, O, Van Daele, S, Vandenbussche, N, Vanhee, A, Verjans, S, Vynckier, J, D'Hont, A, Tilkin, P, de Siqueira Carvalho, A A, Brockhausen, I D, Feder, D, Ambrosio, D, César, P, Melo, A P, Ribeiro, R M, Rocha, R, Rosa, B B, Andersen, H, Vissing, J, Højgaard, J, Witting, N, Pedersen, J, Weiss, M & The REGAIN Study Group 2021, ' Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab : subgroup analysis of REGAIN and its extension study ', Muscle and Nerve, vol. 64, no. 6, pp. 662-669 . https://doi.org/10.1002/mus.27422

Rossi D; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: daniela.rossi@unisi.it.; Pranzo C; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy.; Roccabianca S; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy.; Galli L; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Orrico A; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Sorbello G; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Tegazzin V; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; D'Onofrio P; Perioperative Anesthesia and Reanimation Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Fucci A; Perioperative Anesthesia and Reanimation Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Quarta S; Perioperative Anesthesia and Reanimation Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Perni S; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy.; Rubino EM; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy.; Serano M; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy.; Berti G; Department of Medicine, Surgery and Neuroscience - University of Siena, Italy; Neurology and neurometabolic disease - Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Lopergolo D; Neurology and neurometabolic disease - Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Malandrini A; Department of Medicine, Surgery and Neuroscience - University of Siena, Italy; Neurology and neurometabolic disease - Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Van Petegem F; Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver Canada.; Sorrentino V; Department of Molecular and Developmental Medicine - University of Siena, Siena, Italy; Program of Molecular Diagnosis of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

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Eur J Hum Genet

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Nat Genet

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JAMA Neurology. 82:49

Mantegazza R.; O'Brien F. L.; Yountz M.; Howard J. F.; Gabriel Mazia C.; Wilken M.; Barroso F.; Saba J.; Rugiero M.; Bettini M.; Chaves M.; Vidal G.; Dalila Garcia A.; De Bleecker J.; Van den Abeele G.; de Koning K.; De Mey K.; Mercelis R.; Mahieu D.; Wagemaekers L.; Van Damme P.; Depreitere A.; Schotte C.; Smetcoren C.; Stevens O.; Van Daele S.; Vandenbussche N.; Vanhee A.; Verjans S.; Vynckier J.; D'Hont A.; Tilkin P.; Alves de Siqueira Carvalho A.; Dias Brockhausen I.; Feder D.; Ambrosio D.; Cesar P.; Paula Melo A.; Martins Ribeiro R.; Rocha R.; Bezerra Rosa B.; Veiga T.; Augusto da Silva L.; Santos Engel M.; Goncalves Geraldo J.; da Penha Ananias Morita M.; Nogueira Coelho E.; Paiva G.; Pozo M.; Prando N.; Torres D. D. M.; Fernanda Butinhao C.; Duran G.; Augusto Suriane Fialho T.; Gomes da Silva T. C.; Goncalves L. O. M.; Eduardo Pazetto L.; Renata Cubas Volpe L.; Souza Duca L.; Friedrich M. A. 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T.; Paulose S.; Pol S.; Welsh L.; Bhavaraju-Sanka R.; Tobon Gonzalez A.; Dishman L.; Jones F.; Gonzalez A.; Padilla P.; Saklad A.; Silva M.; Nations S.; Trivedi J.; Hopkins S.; Kazamel M.; Alsharabati M.; Lu L.; Nozaki K.; Mumfrey-Thomas S.; Woodall A.; Mozaffar T.; Cash T.; Roy G.; Mathew V.; Maqsood F.; Minton B.; James Jones H.; Rosenfeld J.; Garcia R.; Echevarria L.; Garcia S.; Pulley M.; Aranke S.; Ross Berger A.; Shah J.; Shabbir Y.; Smith L.; Varghese M.; Gutmann L.; Jerath N.; Nance C.; Swenson A.; Olalde H.; Kressin N.; Sieren J.; Barohn R.; Dimachkie M.; Glenn M.; McVey A.; Pasnoor M.; Statland J.; Wang Y.; Liu T.; Emmons K.; Jenci N.; Locheke J.; Fondaw A.; Johns K.; Rico G.; Walsh M.; Herbelin L.; Hafer-Macko C.; Kwan J.; Zilliox L.; Callison K.; Young V.; DiSanzo B.; Naunton K.; Benatar M.; Bilsker M.; Sharma K.; Cooley A.; Reyes E.; Michon S. -C.; Sheldon D.; Steele J.; Traub R.; Chopra M.; Vu T.; Katzin L.; McClain T.; Harvey B.; Hart A.; Huynh K.; Beydoun S.; Chilingaryan A.; Doan V.; Droker B.; Gong H.; Karimi S.; Lin F.; Polaka K.; Tran A.; Akhter S.; Malekniazi A.; Tandan R.; Hehir M.; Waheed W.; Lucy S.; Weiss M.; Distad J.; Strom S.; Downing S.; Kim B.; Bertorini T.; Arnold T.; Henderson K.; Pillai R.; Liu Y.; Wheeler L.; Hewlett J.; Vanderhook M.; Nowak R.; Dicapua D.; Keung B.; Kumar A.; Patwa H.; Robeson K.; Yang I.; Nye J.; Vu H.

Ann Clin Transl Neurol
Articles publicats en revistes (Ciències Clíniques)
Dipòsit Digital de la UB
instname
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1327-1339 (2020)
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Mantegazza, R, O'Brien, F L, Yountz, M, Howard, J F, Gabriel Mazia, C, Wilken, M, Barroso, F, Saba, J, Rugiero, M, Bettini, M, Chaves, M, Vidal, G, Dalila Garcia, A, De Bleecker, J, Van den Abeele, G, de Koning, K, De Mey, K, Mercelis, R, Mahieu, D, Wagemaekers, L, Van Damme, P, Depreitere, A, Schotte, C, Smetcoren, C, Stevens, O, Van Daele, S, Vandenbussche, N, Vanhee, A, Verjans, S, Vynckier, J, D’Hont, A, Tilkin, P, Alves de Siqueira Carvalho, A, Dias Brockhausen, I, Feder, D, Ambrosio, D, César, P, Paula Melo, A, Martins Ribeiro, R, Rocha, R, Bezerra Rosa, B, Veiga, T, Augusto da Silva, L, Santos Engel, M, Ferreira, L, Andersen, H, Harbo, T, Vinge, L & Maeda, Y 2020, 'Consistent improvement with eculizumab across muscle groups in myasthenia gravis', Annals of Clinical and Translational Neurology, vol. 7, no. 8, pp. 1327-1339. https://doi.org/10.1002/acn3.51121

Rots, D.; Jakub, T.E.; Keung, C.; Lisenka, V.E.L.M.; Banka, S.; Pfundt, R.; Vries, B.B.A. de; Jaarsveld, R.H. van; Hopman, S.M.J.; Binsbergen, E. van; Valenzuela, I.; Hempel, M.; Bierhals, T.; Kortüm, F.; Lecoquierre, F.; Goldenberg, A.; Hertz, J.M.; Andersen, C.B.; Kibaek, M.; Prijoles, E.J.; Stevenson, R.E.; Everman, D.B.; Patterson, W.G.; Meng, L.Y.; Gijavanekar, C.; Dios, K. de; Lakhani, S.; Levy, T.; Wagner, M.; Wieczorek, D.; Benke, P.J.; Garcia, M.S.L.; Perrier, R.; Sousa, S.B.; Almeida, P.M.; Simoes, M.J.; Isidor, B.; Deb, W.; Schmanski, A.A.; Abdul-Rahman, O.; Philippe, C.; Bruel, A.L.; Faivre, L.; Vitobello, A.; Thauvin, C.; Smits, J.J.; Garavelli, L.; Caraffi, S.G.; Peluso, F.; Davis-Keppen, L.; Platt, D.; Royer, E.; Leeuwen, L.; Sinnema, M.; Stegmann, A.P.A.; Stumpel, C.T.R.M.; Tiller, G.E.; Bosch, D.S.D.L.G.M.; Potgieter, S.T.; Joss, S.; Splitt, M.; Holden, S.; Prapa, M.; Foulds, N.; Douzgou, S.; Puura, K.; Waltes, R.; Chiocchetti, A.G.; Freitag, C.M.; Satterstrom, F.K.; Rubeis, S. de; Buxbaum, J.; Gelb, B.D.; Branko, A.; Kushima, I.; Howe, J.; Scherer, S.W.; Arado, A.; Baldo, C.; Patat, O.; Benedicte, D.; Lopergolo, D.; Santorelli, F.M.; Haack, T.B.; Dufke, A.; Bertrand, M.; Falb, R.J.; Riess, A.; Krieg, P.; Spranger, S.; Bedeschi, M.F.; Iascone, M.; Josephi-Taylor, S.; Roscioli, T.; Buckley, M.F.; Liebelt, J.; Dagli, A.I.; Aten, E.; Hurst, A.C.E.; Hicks, A.; Suri, M.; Aliu, E.; Naik, S.; Sidlow, R.; Coursimault, J.; Nicolas, G.; Küpper, H.; Petit, F.; Ibrahim, V.; Top, D.; Cara, F. di; Louie, R.J.; Stolerman, E.; Brunner, H.G.; Vissers, L.E.L.M.; Kramer, J.M.; Kleefstra, T.; Genomics England Res Consortium

D'Este G; Neurobiology Laboratory, San Camillo IRCCS, Via Alberoni 70, 30126 Venezia, Italy.; Giorgetti A; Department of Biotechnology, University of Verona, Strada Le Grazie 15, 37134 Verona, Italy.; Cassandrini D; UOC Immunologia, Azienda Ospedaliera Universitaria Integrata, P.le L.A. Scuro 10, 37134 Verona, Italy.; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy.; Magri F; Neuromuscular Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 28, 20122 Milan, Italy.; Ronchi D; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Center, University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy.; Rubegni A; IRCCS Stella Maris Foundation, Viale del Tirreno 341, 56128 Pisa, Italy.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Viale Bracci 16, 53100 Siena, Italy.; Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia, Azienda Ospedaliero-Universitaria Senese, Viale Bracci 16, 53100 Siena, Italy.; Merlini L; Department of Biomedical and Neuromotor Science (DIBINEM), University of Bologna, Piazza di Porta S. Donato 2, 40127 Bologna, Italy.; Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy.; Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy.; Barresi R; Neurobiology Laboratory, San Camillo IRCCS, Via Alberoni 70, 30126 Venezia, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE; In Process

Pagano S; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Lopergolo D; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, 53100 Siena, Italy.; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; De Falco A; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Meossi C; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Satolli S; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Pasquariello R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Trovato R; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Tessa A; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Casalini C; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Pfanner L; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, 56124 Pisa, Italy.; Santorelli FM; Molecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Lopergolo D.; Gallus G. N.; Pieraccini G.; Boscaro F.; Berti G.; Serni G.; Volpi N.; Formichi P.; Bianchi S.; Cassandrini D.; Sorrentino V.; Rossi D.; Santorelli F. M.; De Stefano N.; Malandrini A.

Cells
Cells, Vol 13, Iss 17, p 1504 (2024)

Amaro A; Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino, 16132, Genoa, Italy.; Reggiani F; Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino, 16132, Genoa, Italy.; Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Petito M; Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino, 16132, Genoa, Italy.; Department of Experimental Medicine (DIMES) at the University of Genoa, 16132, Genoa, Italy.; Baratto S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Pintus S; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Principi E; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Antonini F; Department of Research and Diagnostics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Del Zotto G; Department of Research and Diagnostics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Vellone VG; Pathology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genova, Italy.; D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children's Hospital IRCCS, 00146, Rome, Italy.; Lopergolo D; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100, Siena, Italy.; Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37124, Verona, Italy.; Malfatti E; Univ Paris-Est Créteil, INSERM, 94010, Créteil, France.; Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Turin, 10126, Turin, Italy.; Pegoraro E; Department of Neurosciences, University of Padua, 35131, Padua, Italy.; Previtali S; IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.; Rodolico C; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125, Messina, Italy.; Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle upon Tyne, NE1 3BZ, UK.; Fiorillo C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genoa, 16132, Genoa, Italy.; Gazzerro E; Unit of Muscle Research, Experimental and Clinical Research Center, Cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and Charité-University Berlin, 13125, Berlin, Germany.; Pfeffer U; Laboratory of Gene Expression Regulation, IRCCS Ospedale Policlinico San Martino, 16132, Genoa, Italy.; Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genoa, 16132, Genoa, Italy.; Raffaghello L; Molecular Oncology and Angiogenesis Unit, IRCCS Ospedale Policlinico San Martino, 16132, Genoa, Italy.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Della Vecchia S.; Tessa A.; Dosi C.; Baldacci J.; Pasquariello R.; Antenora A.; Astrea G.; Bassi M. T.; Battini R.; Casali C.; Cioffi E.; Conti G.; De Michele G.; Ferrari A. R.; Filla A.; Fiorillo C.; Fusco C.; Gallone S.; Germiniasi C.; Guerrini R.; Haggiag S.; Lopergolo D.; Martinuzzi A.; Melani F.; Mignarri A.; Panzeri E.; Pini A.; Pinto A. M.; Pochiero F.; Primiano G.; Procopio E.; Renieri A.; Romaniello R.; Sancricca C.; Servidei S.; Spagnoli C.; Ticci C.; Rubegni A.; Santorelli F. M.