부산대학교 도서관

Berghella, Alessandro; Stepniewski, Tomasz Maciej; Sabatucci, Annalaura; Lopez-Balastegui, Marta; Nowicki, Krzysztof; Dufrusine, Beatrice; Selent, Jana; Dainese, Enrico

International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 24, p11905. 17p.

Bernardo, Ana Lia ; Mohammed-Sadhakathullah, Ahammed H.M. ; Angelucci, Clotilde B. ; Estrany, Francesc ; Berghella, Alessandro ; Torras, Juan ; Armelin, Elaine ; Oddi, Sergio ; Dainese, Enrico

In International Journal of Biological Macromolecules November 2024 281 Part 2

Thompson, Miles D.; Reiner-Link, David; Berghella, Alessandro; Rana, Brinda K.; Rovati, G. Enrico; Capra, Valerie; Gorvin, Caroline M.; Hauser, Alexander S.

Critical Reviews in Clinical Laboratory Sciences. Dec2024, Vol. 61 Issue 8, p641-684. 44p.

Kizilkaya, Hüsün S.; Sørensen, Kimmie V.; Madsen, Jakob S.; Lindquist, Peter; Douros, Jonathan D.; Bork-Jensen, Jette; Berghella, Alessandro; Gerlach, Peter A.; Gasbjerg, Lærke S.; Mokrosiński, Jacek; Mowery, Stephanie A.; Knerr, Patrick J.; Finan, Brian; Campbell, Jonathan E.; D’Alessio, David A.; Perez-Tilve, Diego; Faas, Felix; Mathiasen, Signe; Rungby, Jørgen; Sørensen, Henrik T.; Vaag, Allan; Nielsen, Jens S.; Holm, Jens Christian; Lauenborg, Jeannet; Damm, Peter; Pedersen, Oluf; Linneberg, Allan; Hartmann, Bolette; Holst, Jens J.; Hansen, Torben; Wright, Shane C.; Lauschke, Volker M.; Grarup, Niels; Hauser, Alexander S.; Rosenkilde, Mette M.

Nature Metabolism. 6(7):1268-1281

Bernardo, Ana Lia ; Mohammed-Sadhakathullah, Ahammed H.M. ; Angelucci, Clotilde B. ; Estrany, Francesc ; Berghella, Alessandro ; Torras, Juan ; Armelin, Elaine ; Oddi, Sergio ; Dainese, Enrico

In International Journal of Biological Macromolecules December 2024 283 Part 1

Dufrusine, Beatrice; Valentinuzzi, Silvia; Bibbò, Sandra; Damiani, Verena; Lanuti, Paola; Pieragostino, Damiana; Del Boccio, Piero; D'Alessandro, Ersilia; Rabottini, Alberto; Berghella, Alessandro; Allocati, Nerino; Falasca, Katia; Ucciferri, Claudio; Mucedola, Francesco; Di Perna, Marco; Martino, Laura; Vecchiet, Jacopo; De Laurenzi, Vincenzo; Dainese, Enrico

International Journal of Molecular Sciences. Jan2023, Vol. 24 Issue 1, p15. 21p.

Wright, Shane C.; Motso, Aikaterini; Koutsilieri, Stefania; Beusch, Christian M.; Sabatier, Pierre; Berghella, Alessandro; Blondel-Tepaz, Elodie; Mangenot, Kimberley; Pittarokoilis, Ioannis; Sismanoglou, Despoina-Christina; Le Gouill, Christian; Olsen, Jesper V.; Zubarev, Roman A.; Lambert, Nevin A.; Hauser, Alexander S.; Bouvier, Michel; Lauschke, Volker M.

Nature Communications. 14(1)

Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; The National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK.; Torraco A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy.; Ghezzi D; Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20126 Milan, Italy.; Tioli G; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.; Rigobello L; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.; Ormanbekova D; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Berghella A; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy.; Pietro Pasti A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Barboni P; IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Lucia Cascavilla M; IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Sadun F; Ospedale Oftalmico Roma, 00136 Rome, Italy.; De Negri A; Azienda Ospedaliera San Camillo-Forlanini, 00152 Rome, Italy.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Musumeci O; Department of Experimental and Clinical Medicine, University of Messina, 98122 Messina, Italy.; Ardissone A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Child Neurology Unit, 20133 Milan, Italy.; Rizza T; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Iarossi G; Ophthalmology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.; Silvestri G; Department of Neuroscience, Università Cattolica del Sacro Cuore-Sede di Roma, 00168 Rome, Italy.; Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo A Gemelli, 00168 Rome, Italy.; Rossi S; Department of Neuroscience, Università Cattolica del Sacro Cuore-Sede di Roma, 00168 Rome, Italy.; Altobelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Moore AT; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Cullup T; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, Guilford St, London WC1N 3BH, UK.; Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Davagnanam I; Department of Brain Repair and Rehabilitation, University College London Institute of Neurology, Faculty of Brain Sciences, UCL, London WC1N 3AR, UK.; Michaelides M; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Malka S; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Ptackova H; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Stufkova H; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Tesarova M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 121 08 Prague, Czech Republic.; Zeng L; Friedrich-Baur-Institute, Department of Neurology, University Hospital, Ludwig-Maximilians University, 81377 Munich, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, University Hospital, Ludwig-Maximilians University, 81377 Munich, Germany.; German Center for Neurodegenerative Diseases, 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Neuhofer C; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Department of Clinical Human Genetics, University Medical Center Regensburg, 93053 Regensburg, Germany.; Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80636 Munich, Germany.; Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, 20126 Milan, Italy.; Sadun AA; Doheny Eye Institute, Pasadena, CA 91103, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0XY, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy.; Musiani F; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.; Iommarini L; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.; Carrozzo R; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Arno G; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, 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