检索结果 - Giovanni Zifarelli

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  1. 1
    Conversion of the 2 Cl−/1 H+ antiporter ClC-5 in a NO3−/H+ antiporter by a single point mutation

    Conversion of the 2 Cl−/1 H+ antiporter ClC-5 in a NO3−/H+ antiporter by a single point mutation 由 Giovanni Zifarelli, Michael Pusch

    出版 2009
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  2. 2
    Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins

    Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins 由 Anselm A. Zdebik, Giovanni Zifarelli, Eun-Yeong Bergsdorf, Paolo Soliani, Olaf Scheel, Thomas J. Jentsch, Michael Pusch

    出版 2007
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  3. 3
    Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin

    Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin 由 Raquel Ruivo, Gian Carlo Bellenchi, Xiong Chen, Giovanni Zifarelli, Corinne Sagné, Cécile Debacker, Michael Pusch, Stéphane Supplisson, Bruno Gasnier

    出版 2012
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  4. 4
    Rare missense variants inATP1A2 in families with clustering of common forms of migraine

    Rare missense variants inATP1A2 in families with clustering of common forms of migraine 由 Unda Todt, Martin Dichgans, Karin Jurkat‐Rott, Axel Heinze, Giovanni Zifarelli, Jan J. Koenderink, Ingrid Goebel, Vera Zumbroich, Anne Stiller, Alfredo Ramı́rez, Thomas Friedrich, Hartmut Göbel, Christian Kubisch

    出版 2005
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  5. 5
    GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

    GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit 由 Elena Jeworutzki, Tania López-Hernández, Xavier Capdevila‐Nortes, Sònia Sirisi, Luiza Bengtsson, Marisol Montolio, Giovanni Zifarelli, Tanit Arnedo, Catrin Swantje Müller, Uwe Schulte, Virginia Nunes, Albert Martı́nez, Thomas J. Jentsch, Xavier Gasull, Michael Pusch, Raúl Estévez

    出版 2012
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  6. 6
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction 由 Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    出版 2025
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  7. 7
    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency 由 Huw B. Thomas, Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad Abukhalid, Muhammad Ansar, Sakina Rehman, Saima Riazuddin, Firdous Abdulwahab, Janine Smith, Zornitza Stark, Hanifenur Mancılar, Sait Tümer, Fatma Nisa Esen, Eyyüp Üçtepe, Vehap Topçu, Ahmet Yeşilyurt, Erum Afzal, Mehri Salari, Christopher J. Carroll, Giovanni Zifarelli, Peter Bauer, Deniz Kör, Fatma Derya Bulut, Henry Houlden, Reza Maroofian, Samantha Carrera, Wyatt W. Yue, Kevin J. Munro, Fowzan S. Alkuraya, Peter Jamieson, Zubair M. Ahmed, Suzanne M. Leal, Robert W. Taylor, Ilka Wittig, Raymond T. O’Keefe, William G. Newman

    出版 2025
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  8. 8
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications 由 Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andrés Moreno-De-Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Al-Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden

    出版 2024
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  9. 9
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... 由 Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    出版 2022
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  10. 10
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing 由 Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    出版 2024
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  11. 11
    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders 由 Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup

    出版 2024
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