부산대학교 도서관

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American Journal of Human Genetics. 112(5)

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; ElGhazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P.H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza

eBioMedicine. 107

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In: Nature Communications. (Nature Communications, December 2025, 16(1))

Koopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza

European Journal of Human Genetics. 31(1):97-104

Lagostena L; Zifarelli G; Picollo A

Journal of the American Society of Nephrology 30 (2019): 293–302. doi:10.1681/ASN.2018060593
info:cnr-pdr/source/autori:Lagostena L, Zifarelli G, Picollo A/titolo:New Insights into the Mechanism of NO3-Selectivity in the Human Kidney Chloride Channel ClC-Ka and the CLC Protein Family/doi:10.1681%2FASN.2018060593/rivista:Journal of the American Society of Nephrology/anno:2019/pagina_da:293/pagina_a:302/intervallo_pagine:293–302/volume:30

Remigante, A; Morabito, R; Marino, A; Scimemi, P; Picco, C; Santarelli, R; Zifarelli, G; Dossena, S; Pusch, M

The FASEB Journal. 35

Remigante Alessia; Morabito Rossana; Marino Angela; Sarikas A.; Zifarelli G.; Picco C; Pusch M.; Dossena S.

Zifarelli, G; Liantonio, A; Gradogna, A; Picollo, A; Gramegna, G; De Bellis, M; Murgia, A R; Babini, E; Conte Camerino, D; Pusch, M

British Journal of Pharmacology. Aug 01, 2010 160(7):1652-1661

Pusch M; Zifarelli G

J Gen Physiol
The journal of general physiology (Online) 153 (2021). doi:10.1085/jgp.202012583
info:cnr-pdr/source/autori:Pusch M.; Zifarelli G./titolo:Large transient capacitive currents in wild-type lysosomal Cl-%2FH+ antiporter ClC-7 and residual transport activity in the proton glutamate mutant E312A/doi:10.1085%2Fjgp.202012583/rivista:The journal of general physiology (Online)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:153

Thomas, H.B.; Demain, L.A.M.; Rea, A.; Smith, T.B.; O'Keefe, R.T.; Newman, W.G.; Cabrera-Orefice, A.; Wittig, I.; Schrauwen, I.; Shamseldin, H.E.; Abdulwahab, F.; Alkuraya, F.S.; Bharadwaj, T.; Leal, S.M.; Oláhová, M.; Thompson, K.; Taylor, R.W.; He, L.; Kaur, N.; Shukla, A.; Abukhalid, M.; Ansar, M.; Rehman, S.; Riazuddin, S.; Ahmed, Z.M.; Smith, J.M.; Stark, Z.; Mancilar, H.; Tumer, S.; Esen, F.N.; Uctepe, E.; Topcu, V.; Yesilyurt, A.; Afzal, E.; Salari, M.; Carroll, C.; Zifarelli, G.; Bauer, P.; Kor, D.; Bulut, F.D.; Houlden, H.; Maroofian, R.; Carrera, S.; Yue, W.W.; Munro, K.J.; Jamieson, P.

In: American Journal of Human Genetics. (American Journal of Human Genetics, 3 April 2025, 112(4):952-962)

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In: Genetics in Medicine. (Genetics in Medicine, April 2025, 27(4))

Pusch, M.; Zifarelli, G.; Murgia, A.R.; Picollo, A.; Babini, E.

Experimental Physiology. Jan, 2006, Vol. 91 Issue 1, p149, 4 p.

Pusch M; Zifarelli G

Cell calcium (Edinburgh) 58 (2015): 57–66. doi:10.1016/j.ceca.2014.09.007
info:cnr-pdr/source/autori:Pusch M.; Zifarelli G./titolo:ClC-5: Physiological role and biophysical mechanisms/doi:10.1016%2Fj.ceca.2014.09.007/rivista:Cell calcium (Edinburgh)/anno:2015/pagina_da:57/pagina_a:66/intervallo_pagine:57–66/volume:58

Liantonio A; Picollo A; Carbonara G; Fracchiolla G; Tortorella P; Loiodice F; Laghezza A; Babini E; Zifarelli G; Pusch M; Camerino DC

Proceedings of the National Academy of Sciences of the United States of America 105 (2008): 1369–1373. doi:10.1073/pnas.0708977105
info:cnr-pdr/source/autori:Liantonio A1, Picollo A, Carbonara G, Fracchiolla G, Tortorella P, Loiodice F, Laghezza A, Babini E, Zifarelli G, Pusch M, Camerino DC/titolo:Molecular switch for CLC-K Cl-channel block%2Factivation: Optimal pharmacophoric requirements towards high-affinity ligands/doi:10.1073%2Fpnas.0708977105/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2008/pagina_da:1369/pagina_a:1373/intervallo_pagine:1369–1373/volume:105
Proceedings of the National Academy of Sciences of the United States of America 105 (2008): 1369–1373.
info:cnr-pdr/source/autori:Liantonio A, Picollo A, Carbonara G, Fracchiolla G, Tortorella P, Loiodice F, Laghezza A, Babini E, Zifarelli G, Pusch M, Conte Camerino D./titolo:Molecular switch for CLC-K Cl-channel block%2Factivation: optimal pharmacophoric requirements towards high affinity ligands./doi:/rivista:Proceedings of the National Academy of Sciences of the United States of America/anno:2008/pagina_da:1369/pagina_a:1373/intervallo_pagine:1369–1373/volume:105

Zapater LJ; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Lewis SA; Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, and Departments of Child Health, Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Gutierrez RL; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Yamada M; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Rodriguez-Fos E; Barcelona Supercomputing Center (BSC), Barcelona 08034, Spain.; Planas-Felix M; Barcelona Supercomputing Center (BSC), Barcelona 08034, Spain.; Cameron D; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Demarest P; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Nabila A; Department of Pharmacology, Weill Cornell Medical College, New York, NY 10021, USA.; Mueller HS; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Zhao J; Program for Mathematical Genomics, Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, NY 10032, USA.; Bergin P; Department of Pharmacology, Weill Cornell Medical College, New York, NY 10021, USA.; Reed C; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Chwat-Edelstein T; Molecular Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Programs in Biochemistry, Cell, and Molecular Biology, Weill Cornell Graduate School of Medical Sciences, New York, NY 10065, USA.; Pagnozzi A; Australian e-Health Research Centre, CSIRO, Brisbane, Australia.; Nava C; Sorbonne Université, Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique- Hôpitaux de Paris (APHP), Département de Génétique, Hôpital de la Pitié Salpêtrière, Paris, France.; Bourel-Ponchel E; Research Group on Multimodal Analysis of Brain Function, University of Picardie Jules Verne, Amiens, France.; Pediatric Neurophysiology Unit, Amiens Picardie University Hospital, Amiens, France.; Cornejo P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Dursun A; Hacettepe University, Faculty of Medicine & Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey.; Özgül RK; 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Department of Pharmacology, Weill Cornell Medical College, New York, NY 10021, USA.; Kentsis A; Molecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Tow Center for Developmental Oncology, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA.; Departments of Pediatrics, Pharmacology, and Physiology & Biophysics, Weill Medical College of Cornell University, New York, NY 10065, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Rawlins, L.E.; Cannon, S.J.; Ghani, S.; Leslie, J.S.; Ubeyratna, N.; Wright, C.F.; Baple, E.L.; Crosby, A.H.; Maroofian, R.; Zamani, M.; Scardamaglia, A.; Rodriguez Cruz, P.M.; Salazar-Villacorta, A.; Alavi, S.; Houlden, H.; Daana, M.; Galehdari, H.; Shariati, G.; Sedaghat, A.; Saberi, A.; Khan, H.; Khan, S.A.; Khan, J.; Shabbir, M.I.; Khan, N.; Cloarec, R.; Milh, M.; Umair, M.; Sadeghian, S.; Azizimalamiri, R.; Al-Maawali, A.; Al-Kindi, A.; Ahmad, F.; Al-Futaisi, A.; Ndiaye, M.; Diop, A.G.; Hamid, M.; Zaki, M.S.; Vona, B.; Owrang, D.; Alhashem, A.M.; Obeid, M.; Beydoun, A.; Najjar, M.; Boustany, R.-M.N.; Khan, A.; Tajsharghi, H.; Zifarelli, G.; Bauer, P.; Hakami, W.S.; Al Hashem, A.M.; Burglen, L.; Gunning, A.C.; Owens, M.; Karimiani, E.G.; Gleeson, J.G.; Salah, S.; Elpeleg, O.; Haucke, V.; Ebner, M.; McGavin, L.

In: Genetics in Medicine. (Genetics in Medicine, February 2025, 27(2))

Chelban, V.; Maroofian, R.; Vandrovcova, J.; Kaiyrzhanov, R.; Salpietro, V.; Efthymiou, S.; Schottlaender, L.V.; Morsy, H.; Scardamaglia, A.; Tariq, A.; Houlden, H.; Houlden, H.; Aksnes, H.; Siggervåg, A.; Pennavaria, A.; Krogstad, L.S.; Bekkelund, Å.K.; Caiella, A.; Glomnes, N.; Brønstad, K.M.; Arnesen, T.; LaMonica, L.C.; Ernst, A.M.; Rothman, J.E.; Seabra, L.; Crow, Y.J.; Devic, P.; Shamseldin, H.E.; Abdulwahab, F.; Alkuraya, F.S.; Murphy, D.; Wood, N.W.; Richard, A.-C.; Quenez, O.; Bonnevalle, A.; Nicolas, G.; Zanetti, M.N.; Pagnamenta, A.T.; Tury, S.; Battini, J.-L.; Moreno De Luca, A.; Boland-Auge, A.; Olaso, R.; Deleuze, J.-F.; Anheim, M.; Cretin, B.; Vona, B.; Alajlan, F.; İpek, R.; Bauer, P.; Zifarelli, G.; Gungor, S.; Kurul, S.H.; Lochmuller, H.; Da’as, S.I.; Fakhro, K.A.; Gómez-Pascual, A.; Botía, J.A.; Horvath, R.; McEntagart, M.; Alkuraya, F.S.

In: Nature Communications. (Nature Communications, December 2024, 15(1))

De Stefano S; Pusch M; Zifarelli G

J Physiol
Journal of physiology (Lond., Print) 591 (2013): 5879–5893. doi:10.1113/jphysiol.2013.260240
info:cnr-pdr/source/autori:De Stefano S, Pusch M, Zifarelli G/titolo:A single point mutation reveals gating of the human ClC-5 Cl-%2FH+ antiporter/doi:10.1113%2Fjphysiol.2013.260240/rivista:Journal of physiology (Lond., Print)/anno:2013/pagina_da:5879/pagina_a:5893/intervallo_pagine:5879–5893/volume:591

Ghosh S; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Singh J; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Golding AE; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Jarnik M; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Thakran P; National Heart Lung and Blood Institute, National Institute of Health, Bethesda, MD 20892, USA.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Heitz J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Sumayli S; Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad 38000, Pakistan.; Kim J; Division of Medical Genetics, 3billion, Inc, Seoul 06160, South Korea.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston 02115, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Barkhordari E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Abu-Libdeh B; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Edvardson S; Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Patten SA; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Departement de Neurosciences, Université de Montréal, QC H3C 3J7, Canada.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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

Zifarelli G; De Stefano S; Zanardi I; Pusch M

Biophysical journal
info:cnr-pdr/source/autori:Zifarelli G., De Stefano S., Zanardi I., Pusch M./titolo:On the mechanism of gating charge movement of ClC-5, a human Cl(-)%2FH(+) antiporter/doi:10.1016%2Fj.bpj.2012.03.067/rivista:Biophysical journal (Print)/anno:2012/pagina_da:2060/pagina_a:2069/intervallo_pagine:2060–2069/volume:102