Resultats de la cerca - Majdi Kara

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  1. 1
    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly per Lu Wang, Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen G. Ghosh, Yulu Wang, Majdi Kara, Ayça Dilruba Aslanger, Rasim Özgür Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

    Publicat 2020
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  2. 2
    Mutations in CSPP1 Lead to Classical Joubert Syndrome

    Mutations in CSPP1 Lead to Classical Joubert Syndrome per Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti, Eric Scott, Ali G. Fenstermaker, Jana Schroth, Maha S. Zaki, Henry Sánchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben‐Omran, Başak Rosti, Alicia Guemez‐Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Günel, Joseph G. Gleeson

    Publicat 2013
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  3. 3
    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy per Gaia Novarino, Paul El-Fishawy, Hülya Kayserili, Nagwa A. Meguid, Eric Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben‐Omran, A. Gulhan Ercan‐Sencicek, Adel F. Hashish, Stephan Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

    Publicat 2012
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  4. 4
    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome per Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben‐Omran, Naiara Akizu, Rasim Özgür Rosti, Başak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave‐Gassiot, Debra Q Y Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Günel, Stacey Gabriel, C. Neil, David L. Silver, Joseph G. Gleeson

    Publicat 2015
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  5. 5
    Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

    Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder per Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Rybiczka-Tešulov, Emanuela Morelli, Fatma Müjgan Sönmez, Kaya Bilgüvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben‐Omran, Meral Topçu, Avner Schlessinger, Cesare Indiveri, Kent E. Duncan, Ahmet Okay Çağlayan, Murat Günel, Joseph G. Gleeson, Gaia Novarino

    Publicat 2016
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  6. 6
    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency per Curtis R. Coughlin, Laura A. Tseng, José E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhaş, Peter T. Clayton, Anibh M. Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma Footitt, Sídney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, R. Lilje, Nicola Longo, Roelineke J. Lunsing, Philippa B. Mills, Maria Papadopoulou, Phillip L. Pearl, Flávia Piazzon, Barbara Plecko, Arushi Gahlot Saini, Saikat Santra, Damayanti Rusli Sjarif, Sylvia Stöckler‐Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven‐Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara van Karnebeek

    Publicat 2020
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  7. 7
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration per Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    Publicat 2018
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  8. 8
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders per Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Publicat 2014
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  9. 9
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects per Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Publicat 2020
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