檢索結果 - Hossein Darvish

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  1. 1
    Identification of a large homozygous <i>VPS13C</i> deletion in a patient with early‐onset Parkinsonism

    Identification of a large homozygous <i>VPS13C</i> deletion in a patient with early‐onset Parkinsonism 由 Hossein Darvish, Paloma Bravo, Abbas Tafakhori, Luís Azcona, Sakineh Ranji‐Burachaloo, Amir Hossein Johari, Coro Paisán‐Ruiz

    出版 2018
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  2. 2
    Identification of a Large<i>DNAJB2</i>Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

    Identification of a Large<i>DNAJB2</i>Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism 由 Elena Sánchez, Hossein Darvish, Roxana Mesias, Shaghyegh Taghavi, Saghar Ghasemi Firouzabadi, Ruth H. Walker, Abbas Tafakhori, Coro Paisán‐Ruiz

    出版 2016
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  3. 3
    <i>PTRHD1</i>(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

    <i>PTRHD1</i>(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism 由 Hamidreza Khodadadi, Luís Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán‐Ruiz

    出版 2016
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  4. 4
    The Sac1 Domain of <i> <scp>SYNJ</scp> 1 </i> Identified Mutated in a Family with Early‐Onset Progressive <scp>P</scp> arkinsonism with Generalized Seizures

    The Sac1 Domain of <i> <scp>SYNJ</scp> 1 </i> Identified Mutated in a Family with Early‐Onset Progressive <scp>P</scp> arkinsonism with Generalized Seizures 由 Catharine E. Krebs, Siamak Karkheiran, James Powell, Mian Cao, Vladimir Makarov, Hossein Darvish, Gilbert Di Paolo, Ruth H. Walker, Gholam Ali Shahidi, Joseph D. Buxbaum, Pietro De Camilli, Zhenyu Yue, Coro Paisán‐Ruiz

    出版 2013
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  5. 5
    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly 由 Hossein Darvish, Sahar Esmaeeli-Nieh, Gholamreza Bahrami Monajemi, Marzieh Mohseni, Saghar Ghasemi-Firouzabadi, Seyedeh Sedigheh Abedini, Ideh Bahman, Payman Jamali, Sarah Azimi, Faezeh Mojahedi, A. Dehghan, Yousef Shafeghati, Aria Jankhah, Masoumeh Falah, Mohammad Javad Soltani Banavandi, Mahdi Ghani, Masoud Garshasbi, Fatemeh Rakhshani, Anoosh Naghavi, Andreas Tzschach, Heidemarie Neitzel, Hans‐Hilger Ropers, Andreas W. Kuß, Farkhondeh Behjati, Kimia Kahrizi, Hossein Najmabadi

    出版 2010
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  6. 6
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia 由 Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    出版 2019
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  7. 7
    A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

    A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations 由 Shaghayegh Taghavi, Rita Chaouni, Abbas Tafakhori, Luís Azcona, Saghar Ghasemi Firouzabadi, Mir Davood Omrani, Javad Jamshidi, Babak Emamalizadeh, Gholam Ali Shahidi, Mona Ahmadi, Seyed Amir Hassan Habibi, Azadeh Ahmadifard, Atena Fazeli, Marzieh Motallebi, Peyman Petramfar, Saeed Askarpour, Shiva Askarpour, Hossein Ali Shahmohammadibeni, Neda Shahmohammadibeni, Hajar Eftekhari, Amir Ehtesham Shafiei Zarneh, Saeed Mohammadihosseinabad, Mehdi Khorrami, Safa Najmi, Ahmad Chitsaz, Parasto Shokraeian, Hossein Ehsanbakhsh, Jalal Rezaeidian, Reza Ebrahimi Rad, Faranak Madadi, Monavvar Andarva, Elham Alehabib, Minoo Atakhorrami, Seyed Erfan Mortazavi, Zahra Azimzadeh, Mahdis Bayat, Amir Mohammad Besharati, Mohammad Ali Harati-Ghavi, Samareh Omidvari, Zahra Dehghani-Tafti, Faraz Mohammadi, Banafsheh Mohammad Hossein Pour, Hamid Noorollahi Moghaddam, Ehsan Esmaili Shandiz, Arman Habibi, Zahra Taherian‐Esfahani, Hossein Darvish, Coro Paisán‐Ruiz

    出版 2017
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  8. 8
    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia 由 Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler‐Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Arnaud Besse, Andy Cheuk‐Him Ng, Diana Chiang, François V. Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K. Huebner, Rebecca Buchert, Stefanie Beck‐Woedl, Amelie J. Müller, Lucia Laugwitz, Thomas Nägele, Zhao‐Qi Wang, Tim M. Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Rieß, Thomas Klopstock, Ulrich Brandl, Christian A. Hübner, Marcus Deschauer, Johannes A. Mayr, Penelope E. Bonnen, Ingeborg Krägeloh‐Mann, Saskia B. Wortmann, Tobias B. Haack

    出版 2020
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  9. 9
    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia 由 Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin

    出版 2019
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  10. 10
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia 由 Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    出版 2021
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